Portal:RareDisease/FeaturedPathways

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== Rare diseases in general ==
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px; cell padding=50px|{{#pwImage:Pathway:WP3584|250px||MECP2 and Associated Rett Syndrome (Homo sapiens)}}
+
|width=100px|{{#pwImage:Pathway:WP2059|250px||Alzheimers Disease}}
|width=100px|{{#pwImage:Pathway:WP2447|250px||Amyotrophic lateral sclerosis (ALS) (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP2447|250px||Amyotrophic lateral sclerosis (ALS) (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
 +
|width=100px|{{#pwImage:Pathway:WP4803|250px||Ciliopathies}}
 +
|}
 +
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP4320|250px||The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)}}
+
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
-
|-
+
|width=100px|{{#pwImage:Pathway:WP4656|250px||Joubert Syndrome}}
-
|width=100px|{{#pwImage:Pathway:WP4299|250px||Lamin A-processing pathway (Homo sapiens)}}
+
|width=100px; cell padding=50px|{{#pwImage:Pathway:WP3584|250px||MECP2 and Associated Rett Syndrome (Homo sapiens)}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
 +
|width=100px|{{#pwImage:Pathway:WP2371|250px||Parkinsons Disease Pathway}}
 +
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
 +
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4312|250px||Rett syndrome causing genes}}
 +
|width=100px|{{#pwImage:Pathway:WP4746|250px||Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism}}
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP4156|250px||Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism}}
+
|width=100px|{{#pwImage:Pathway:WP4577|250px||Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway}}
-
|width=100px|{{#pwImage:Pathway:WP4506|250px||Tyrosine Metabolism}}
+
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4292|250px||Sulphur Amino Acids}}
+
|width=100px|{{#pwImage:Pathway:WP4947|250px||Nitric oxide metabolism in cystic fibrosis}}
-
|width=100px|{{#pwImage:Pathway:WP4259|250px||Disorders of Folate Metabolism and Transport}}
+
|width=100px|{{#pwImage:Pathway:WP5087|250px||Malignant pleural mesothelioma}}
-
|width=100px|{{#pwImage:Pathway:WP4288|250px||MTHFR deficiency (additonal pathway)}}
+
|width=100px|{{#pwImage:Pathway:WP4804|250px||Cholesterol biosynthesis with skeletal dysplasias}}
-
|width=100px|{{#pwImage:Pathway:WP4228|250px||Vitamine B6-Dependent and Responsive Disorders}}
+
|width=100px|{{#pwImage:Pathway:WP5114|250px||Nucleotide excision repair in xeroderma pigmentosum}}
|}
|}
 +
 +
== Copy number variation syndromes ==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4905|250px||1q21.1 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4906|250px||3q29 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4657|250px||22q11.2 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP3998|250px||Prader-Willi and Angelman Syndrome}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4932|250px||7q11.23 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4940|250px||15q11.2 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4942|250px||15q13.3 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4949|250px||16p11.2 proximal deletion syndrome}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4950|250px||16p11.2 distal deletion syndrome}}
 +
|}
 +
 +
== Laminopathies ==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4879|250px||Interacting Laminopathic Pathways}}
 +
|width=100px|{{#pwImage:Pathway:WP4299|250px||Lamin A-processing pathway (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP4320|250px||The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP4844|250px||The influence of laminopathies on Wnt signaling}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
 +
|}
 +
 +
== Disorders of sex development ==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4673|250px||Genes involved in male infertility}}
 +
|width=100px|{{#pwImage:Pathway:WP4871|250px||Kisspeptin/Kisspeptin Receptor System in the Ovary}}
 +
|width=100px|{{#pwImage:Pathway:WP4842|250px||Mammalian disorder of sexual development}}
 +
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
 +
|width=100px|{{#pwImage:Pathway:WP4524|250px||The alternative pathway of fetal androgen synthesis}}
 +
|width=100px|{{#pwImage:Pathway:WP5074|250px||Kallmann syndrome}}
 +
|}
 +
== CAKUT (congenital anomalies of the kidney and urinary tract)==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP5053|250px||Development of uretric collection system}}
 +
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
 +
|width=100px|{{#pwImage:Pathway:WP4823|250px||Genes controlling renal nephrogenesis}}
 +
|width=100px|{{#pwImage:Pathway:WP5052|250px||Nephrogenesis}}
 +
|}
 +
 +
== Lipodystrophy, dyslipidemia and hyperlipidemia ==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP5105|250px||Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia}}
 +
|width=100px|{{#pwImage:Pathway:WP5108|250px||Familial hyperlipidemia type 1}}
 +
|width=100px|{{#pwImage:Pathway:WP5109|250px||Familial hyperlipidemia type 2}}
 +
|width=100px|{{#pwImage:Pathway:WP5110|250px||Familial hyperlipidemia type 3}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP5111|250px||Familial hyperlipidemia type 4}}
 +
|width=100px|{{#pwImage:Pathway:WP5112|250px||Familial hyperlipidemia type 5}}
 +
|width=100px|{{#pwImage:Pathway:WP5104|250px||Acquired partial lipodystrophy / Barraquer-Simons syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP5103|250px||Progeria-associated lipodystrophy}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP5102|250px||Familial partial lipodystrophy (FPLD)}}
 +
|width=100px|{{#pwImage:Pathway:WP5101|250px||Congenital generalized lipodystrophy (CGL)}}
 +
|}
 +
 +
== Inborn errors of metabolism ==
{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4507|250px||Molybdenum (Moco) cofactor biosynthesis}}
|width=100px|{{#pwImage:Pathway:WP4507|250px||Molybdenum (Moco) cofactor biosynthesis}}
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|width=100px|{{#pwImage:Pathway:WP4271|250px||Vitamin B12 Disorders}}
|width=100px|{{#pwImage:Pathway:WP4271|250px||Vitamin B12 Disorders}}
|width=100px|{{#pwImage:Pathway:WP4297|250px||Thiamine Disorders}}
|width=100px|{{#pwImage:Pathway:WP4297|250px||Thiamine Disorders}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4292|250px||Methionine metabolism leading to sulfur amino acids and related disorders}}
 +
|width=100px|{{#pwImage:Pathway:WP4259|250px||Disorders of Folate Metabolism and Transport}}
 +
|width=100px|{{#pwImage:Pathway:WP4288|250px||MTHFR deficiency (additonal pathway)}}
 +
|width=100px|{{#pwImage:Pathway:WP4228|250px||Vitamine B6-Dependent and Responsive Disorders}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4236|250px||Disorders of the Krebs Cycle}}
|width=100px|{{#pwImage:Pathway:WP4236|250px||Disorders of the Krebs Cycle}}
-
|width=100px|{{#pwImage:Pathway:WP4153|250px||Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses}}
+
|width=100px|{{#pwImage:Pathway:WP4153|250px||Degradation pathway of sphingolipids, including diseases}}
|width=100px|{{#pwImage:Pathway:WP4220|250px||Neurotransmitter Disorders}}
|width=100px|{{#pwImage:Pathway:WP4220|250px||Neurotransmitter Disorders}}
|width=100px|{{#pwImage:Pathway:WP4224|250px||Purine Disorders}}
|width=100px|{{#pwImage:Pathway:WP4224|250px||Purine Disorders}}
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{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4225|250px||Pyrimidine Disorders}}
|width=100px|{{#pwImage:Pathway:WP4225|250px||Pyrimidine Disorders}}
-
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
+
|width=100px|{{#pwImage:Pathway:WP4156|250px||Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
+
|width=100px|{{#pwImage:Pathway:WP4506|250px||Tyrosine Metabolism}}
|width=100px|{{#pwImage:Pathway:WP4518|250px||Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases}}
|width=100px|{{#pwImage:Pathway:WP4518|250px||Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases}}
|}
|}
Line 41: Line 129:
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4524|250px||The alternative pathway of fetal androgen synthesis}}
+
|width=100px|{{#pwImage:Pathway:WP4792|250px||Purine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4545|250px||Oxysterols derived from cholesterol}}
-
|width=100px|{{#pwImage:Pathway:WP4577|250px||WDR45 autophagy related pathway}}
+
|width=100px|{{#pwImage:Pathway:WP4595|250px||Urea cycle and associated pathways}}
-
|width=100px|{{#pwImage:Pathway:WP4312|250px||Rett syndrome causing genes}}
+
|width=100px|{{#pwImage:Pathway:WP5029|250px||Amino acid transport defects}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
+
|width=100px|{{#pwImage:Pathway:WP4686|250px||Leucine, isoleucine and valine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
+
|width=100px|{{#pwImage:Pathway:WP5028|250px||Glycine metabolism, including IEMs}}
-
|width=100px|{{#pwImage:Pathway:WP2371|250px||Parkinsons Disease Pathway}}
+
|width=100px|{{#pwImage:Pathway:WP4157|250px||GABA metabolism (aka GHB)}}
-
|width=100px|{{#pwImage:Pathway:WP2059|250px||Alzheimers Disease}}
+
|width=100px|{{#pwImage:Pathway:WP5026|250px||Proline and hydroxyproline pathways}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
+
|width=100px|{{#pwImage:Pathway:WP4686|250px||Leucine, isoleucine and valine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4657|250px||22q11.2 Deletion Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP5028|250px||Glycine metabolism, including IEMs}}
-
|width=100px|{{#pwImage:Pathway:WP4656|250px||Joubert Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4157|250px||GABA metabolism (aka GHB)}}
-
|width=100px|{{#pwImage:Pathway:WP4746|250px||Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism}}
+
|width=100px|{{#pwImage:Pathway:WP5026|250px||Proline and hydroxyproline pathways}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4673|250px||Genes involved in male infertility}}
+
|width=100px|{{#pwImage:Pathway:WP4688|250px||Serine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4844|250px||The influence of laminopathies on Wnt signaling}}
+
|width=100px|{{#pwImage:Pathway:WP5031|250px||Biotin metabolism, including IEMs}}
-
|width=100px|{{#pwImage:Pathway:WP4842|250px||Mammalian disorder of sexual development}}
+
|width=100px|{{#pwImage:Pathway:WP5037|250px||Riboflavin and CoQ disorders}}
-
|width=100px|{{#pwImage:Pathway:WP4841|250px||Kisspeptin/Kisspeptin Receptor System in the Ovary}}
+
|width=100px|{{#pwImage:Pathway:WP4971|250px||Phosphoinositides metabolism}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4838|250px||Regucalcin in proximal tubule epithelial kidney cells}}
+
|width=100px|{{#pwImage:Pathway:WP5030|250px||Ethylmalonic encephalopathy}}
-
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
+
-
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
+
-
|width=100px|{{#pwImage:Pathway:WP4792|250px||Purine metabolism}}
+
-
|}
+
-
{| style="margin: 10px"
+
-
|width=100px|{{#pwImage:Pathway:WP4818|250px||Conversion of Angiotensinogen to Angiotensin II}}
+
-
 
+
|}
|}
List of featured pathways:
List of featured pathways:
-
* [[Pathway:WP3584]] - MECP2 and Associated Rett Syndrome
+
* [[Pathway:WP2059]] - Alzheimers Disease
 +
* [[Pathway:WP2371]] - Parkinsons Disease Pathway
* [[Pathway:WP2447]] - Amyotrophic lateral sclerosis (ALS)
* [[Pathway:WP2447]] - Amyotrophic lateral sclerosis (ALS)
* [[Pathway:WP3569]] - Fanconi Anemia Pathway
* [[Pathway:WP3569]] - Fanconi Anemia Pathway
-
* [[Pathway:WP4320]] - The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
+
* [[Pathway:WP3584]] - MECP2 and Associated Rett Syndrome
-
* [[Pathway:WP4299]] - Lamin A-processing pathway
+
* [[Pathway:WP3853]] - ERK Pathway in Huntington's Disease
-
* [[Pathway:WP4298]] - Viral Acute Myocarditis
+
* [[Pathway:WP3995]] - Prion disease pathway
 +
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
 +
* [[Pathway:WP4153]] - Degradation pathway of sphingolipids, including diseases
* [[Pathway:WP4156]] - Disorders of Phenylalanine and Tetrahydrobiopterin
* [[Pathway:WP4156]] - Disorders of Phenylalanine and Tetrahydrobiopterin
-
* [[Pathway:WP4506]] - Tyrosine Metabolism
+
* [[Pathway:WP4157]] - GABA metabolism (aka GHB)
-
* [[Pathway:WP4292]] - Sulphur Amino Acids
+
-
* [[Pathway:WP4259]] - Disorders of Folate Metabolism and Transport
+
-
* [[Pathway:WP4288]] - MTHFR deficiency
+
-
* [[Pathway:WP4228]] - Vitamine B6-Dependent and Responsive Disorders
+
-
* [[Pathway:WP4507]] - Molybdenum (Moco) cofactor biosynthesis
+
-
* [[Pathway:WP4504]] - Cysteine and Methionine catabolism
+
-
* [[Pathway:WP4271]] - Vitamin B12 Disorders
+
-
* [[Pathway:WP4297]] - Thiamine Disorders
+
-
* [[Pathway:WP4236]] - Disorders of the Krebs Cycle
+
-
* [[Pathway:WP4153]] - Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
+
* [[Pathway:WP4220]] - Neurotransmitter Disorders
* [[Pathway:WP4220]] - Neurotransmitter Disorders
* [[Pathway:WP4224]] - Purine Disorders
* [[Pathway:WP4224]] - Purine Disorders
* [[Pathway:WP4225]] - Pyrimidine Disorder
* [[Pathway:WP4225]] - Pyrimidine Disorder
-
* [[Pathway:WP4540]] - Pathways Regulating Hippo Signaling
+
* [[Pathway:WP4228]] - Vitamine B6-Dependent and Responsive Disorders
-
* [[Pathway:WP4541]] - po-Merlin Signaling Dysregulation
+
* [[Pathway:WP4236]] - Disorders of the Krebs Cycle
 +
* [[Pathway:WP4259]] - Disorders of Folate Metabolism and Transport
 +
* [[Pathway:WP4271]] - Vitamin B12 Disorders
 +
* [[Pathway:WP4288]] - MTHFR deficiency
 +
* [[Pathway:WP4292]] - Methionine metabolism leading to sulfur amino acids and related disorders
 +
* [[Pathway:WP4297]] - Thiamine Disorders
 +
* [[Pathway:WP4298]] - Viral Acute Myocarditis
 +
* [[Pathway:WP4299]] - Lamin A-processing pathway
 +
* [[Pathway:WP4312]] - Rett syndrome causing genes
 +
* [[Pathway:WP4320]] - The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
 +
* [[Pathway:WP4504]] - Cysteine and Methionine catabolism
 +
* [[Pathway:WP4506]] - Tyrosine Metabolism
 +
* [[Pathway:WP4507]] - Molybdenum (Moco) cofactor biosynthesis
* [[Pathway:WP4518]] - Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
* [[Pathway:WP4518]] - Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
* [[Pathway:WP4519]] - Cerebral Organic Acidurias
* [[Pathway:WP4519]] - Cerebral Organic Acidurias
Line 105: Line 191:
* [[Pathway:WP4523]] - Classical pathway of steroidogenesis, including diseases
* [[Pathway:WP4523]] - Classical pathway of steroidogenesis, including diseases
* [[Pathway:WP4524]] - The alternative pathway of fetal androgen synthesis
* [[Pathway:WP4524]] - The alternative pathway of fetal androgen synthesis
-
* [[Pathway:WP4549]] - Fragile X Syndrome
 
-
* [[Pathway:WP4577]] - WDR45 autophagy related pathway
 
-
* [[Pathway:WP4312]] - Rett syndrome causing genes
 
-
* [[Pathway:WP3995]] - Prion disease pathway
 
-
* [[Pathway:WP3853]] - ERK Pathway in Huntington's Disease
 
* [[Pathway:WP4535]] - Envelope proteins and their potential roles in EDMD physiopathology
* [[Pathway:WP4535]] - Envelope proteins and their potential roles in EDMD physiopathology
-
* [[Pathway:WP2371]] - Parkinsons Disease Pathway
+
* [[Pathway:WP4540]] - Pathways Regulating Hippo Signaling
-
* [[Pathway:WP2059]] - Alzheimers Disease
+
* [[Pathway:WP4541]] - po-Merlin Signaling Dysregulation
-
* [[Pathway:WP4657]] - 22q11.2 Deletion Syndrome
+
* [[Pathway:WP4545]] - Oxysterols derived from cholesterol
 +
* [[Pathway:WP4549]] - Fragile X Syndrome
 +
* [[Pathway:WP4577]] - Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
 +
* [[Pathway:WP4595]] - Urea cycle and associated pathways
* [[Pathway:WP4656]] - Joubert Syndrome
* [[Pathway:WP4656]] - Joubert Syndrome
-
* [[Pathway:WP4746]] - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
+
* [[Pathway:WP4657]] - 22q11.2 Deletion Syndrome
* [[Pathway:WP4673]] - Genes involved in male infertility
* [[Pathway:WP4673]] - Genes involved in male infertility
-
* [[Pathway:WP4844]] - The influence of laminopathies on Wnt signaling
+
* [[Pathway:WP4686]] - Leucine, isoleucine and valine metabolism
-
* [[Pathway:WP4842]] - Mammalian disorder of sexual development
+
* [[Pathway:WP4688]] - Serine metabolism
-
* [[Pathway:WP4841]] - Kisspeptin/Kisspeptin Receptor System in the Ovary
+
* [[Pathway:WP4746]] - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
-
* [[Pathway:WP4838]] - Regucalcin in proximal tubule epithelial kidney cells
+
-
* [[Pathway:WP4835]] - Peroxiredoxin 2 induced ovarian failure
+
-
* [[Pathway:WP4830]] - GDNF/RET signalling axis
+
-
* [[Pathway:WP4818]] - Conversion of Angiotensinogen to Angiotensin II
+
* [[Pathway:WP4792]] - Purine metabolism
* [[Pathway:WP4792]] - Purine metabolism
 +
* [[Pathway:WP4803]] - Ciliopathies
 +
* [[Pathway:WP4804]] - Cholesterol biosynthesis with skeletal dysplasias
 +
* [[Pathway:WP4814]] - Somatic Sex determination
 +
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
 +
* [[Pathway:WP4830]] - GDNF/RET signalling axis
 +
* [[Pathway:WP4835]] - Peroxiredoxin 2 induced ovarian failure
 +
* [[Pathway:WP4842]] - Mammalian disorder of sexual development
 +
* [[Pathway:WP4844]] - The influence of laminopathies on Wnt signaling
 +
* [[Pathway:WP4871]] - Kisspeptin/Kisspeptin Receptor System in the Ovary
 +
* [[Pathway:WP4879]] - Interacting Laminopathic Pathways
 +
* [[Pathway:WP4905]] - 1q21.1 copy number variation syndrome
 +
* [[Pathway:WP4906]] - 3q29 copy number variation syndrome
 +
* [[Pathway:WP4932]] - 7q11.23 copy number variation syndrome
 +
* [[Pathway:WP4940]] - 15q11.2 copy number variation syndrome
 +
* [[Pathway:WP4942]] - 15q13.3 copy number variation syndrome
 +
* [[Pathway:WP4947]] - Nitric oxide metabolism in cystic fibrosis
 +
* [[Pathway:WP4949]] - 16p11.2 proximal deletion syndrome
 +
* [[Pathway:WP4950]] - 16p11.2 distal deletion syndrome
 +
* [[Pathway:WP4971]] - Phosphoinositides metabolism
 +
* [[Pathway:WP5026]] - Proline and hydroxyproline pathways
 +
* [[Pathway:WP5028]] - Glycine metabolism, including IEMs
 +
* [[Pathway:WP5029]] - Amino acid transport defects
 +
* [[Pathway:WP5030]] - Ethylmalonic encephalopathy
 +
* [[Pathway:WP5031]] - Biotin metabolism, including IEMs
 +
* [[Pathway:WP5037]] - Riboflavin and CoQ disorders
 +
* [[Pathway:WP5052]] - Nephrogenesis
 +
* [[Pathway:WP5053]] - Development of uretric collection system
 +
* [[Pathway:WP5074]] - Kallmann syndrome
 +
* [[Pathway:WP5087]] - Malignant pleural mesothelioma
 +
* [[Pathway:WP5101]] - Congenital generalized lipodystrophy (CGL)
 +
* [[Pathway:WP5102]] - Familial partial lipodystrophy (FPLD)
 +
* [[Pathway:WP5103]] - Progeria-associated lipodystrophy
 +
* [[Pathway:WP5104]] - Acquired partial lipodystrophy / Barraquer-Simons syndrome
 +
* [[Pathway:WP5105]] - Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
 +
* [[Pathway:WP5108]] - Familial hyperlipidemia type 1
 +
* [[Pathway:WP5109]] - Familial hyperlipidemia type 2
 +
* [[Pathway:WP5110]] - Familial hyperlipidemia type 3
 +
* [[Pathway:WP5111]] - Familial hyperlipidemia type 4
 +
* [[Pathway:WP5112]] - Familial hyperlipidemia type 5
 +
* [[Pathway:WP5114]] - Nucleotide excision repair in xeroderma pigmentosum

Current revision

Contents

Rare diseases in general

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Alzheimers Disease
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Amyotrophic lateral sclerosis (ALS) (Homo sapiens)
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ERK Pathway in Huntington's Disease
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Ciliopathies
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Fanconi Anemia Pathway (Homo sapiens)
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Fragile X Syndrome
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Joubert Syndrome
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MECP2 and Associated Rett Syndrome (Homo sapiens)
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Pathways Regulating Hippo Signaling
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Parkinsons Disease Pathway
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po-Merlin Signaling Dysregulation
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Prion disease pathway
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Rett syndrome causing genes
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Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
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Viral Acute Myocarditis (Homo sapiens)
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Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
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Nitric oxide metabolism in cystic fibrosis
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Malignant pleural mesothelioma
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Cholesterol biosynthesis with skeletal dysplasias
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Nucleotide excision repair in xeroderma pigmentosum

Copy number variation syndromes

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1q21.1 copy number variation syndrome
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3q29 copy number variation syndrome
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22q11.2 copy number variation syndrome
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Prader-Willi and Angelman Syndrome
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7q11.23 copy number variation syndrome
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15q11.2 copy number variation syndrome
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15q13.3 copy number variation syndrome
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16p11.2 proximal deletion syndrome
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16p11.2 distal deletion syndrome

Laminopathies

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Interacting Laminopathic Pathways
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Lamin A-processing pathway (Homo sapiens)
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The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)
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The influence of laminopathies on Wnt signaling
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Envelope proteins and their potential roles in EDMD physiopathology

Disorders of sex development

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Genes involved in male infertility
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Kisspeptin/Kisspeptin Receptor System in the Ovary
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Mammalian disorder of sexual development
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Peroxiredoxin 2 induced ovarian failure
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Somatic Sex determination
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The alternative pathway of fetal androgen synthesis
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Kallmann syndrome

CAKUT (congenital anomalies of the kidney and urinary tract)

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Development of uretric collection system
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GDNF/RET signalling axis
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Genes controlling renal nephrogenesis
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Nephrogenesis

Lipodystrophy, dyslipidemia and hyperlipidemia

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Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
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Familial hyperlipidemia type 1
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Familial hyperlipidemia type 2
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Familial hyperlipidemia type 3
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Familial hyperlipidemia type 4
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Familial hyperlipidemia type 5
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Acquired partial lipodystrophy / Barraquer-Simons syndrome
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Progeria-associated lipodystrophy
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Familial partial lipodystrophy (FPLD)
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Congenital generalized lipodystrophy (CGL)

Inborn errors of metabolism

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Molybdenum (Moco) cofactor biosynthesis
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Cysteine and Methionine catabolism
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Vitamin B12 Disorders
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Thiamine Disorders
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Methionine metabolism leading to sulfur amino acids and related disorders
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Disorders of Folate Metabolism and Transport
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MTHFR deficiency (additonal pathway)
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Vitamine B6-Dependent and Responsive Disorders
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Disorders of the Krebs Cycle
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Degradation pathway of sphingolipids, including diseases
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Neurotransmitter Disorders
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Purine Disorders
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Pyrimidine Disorders
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Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
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Tyrosine Metabolism
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Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
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Cerebral Organic Acidurias
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Glycosylation and related congenital defects
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Metabolic pathway of LDL, HDL and TG
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Classical pathway of steroidogenesis, including diseases
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Purine metabolism
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Oxysterols derived from cholesterol
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Urea cycle and associated pathways
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Amino acid transport defects
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Leucine, isoleucine and valine metabolism
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Glycine metabolism, including IEMs
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GABA metabolism (aka GHB)
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Proline and hydroxyproline pathways
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Leucine, isoleucine and valine metabolism
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Glycine metabolism, including IEMs
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GABA metabolism (aka GHB)
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Proline and hydroxyproline pathways
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Serine metabolism
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Biotin metabolism, including IEMs
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Riboflavin and CoQ disorders
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Phosphoinositides metabolism
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Ethylmalonic encephalopathy

List of featured pathways:

Retrieved from "https://classic.wikipathways.org/index.php/Portal:RareDisease/FeaturedPathways"
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