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:WP4595|250px||Urea cycle and associated pathways}}
 +
|width=100px|{{#pwImage:Pathway:WP5029|250px||Amino acid transport defects}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4686|250px||Leucine, isoleucine and valine metabolism}}
 +
|width=100px|{{#pwImage:Pathway:WP5028|250px||Glycine metabolism, including IEMs}}
 +
|width=100px|{{#pwImage:Pathway:WP4157|250px||GABA metabolism (aka GHB)}}
 +
|width=100px|{{#pwImage:Pathway:WP5026|250px||Proline and hydroxyproline pathways}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4686|250px||Leucine, isoleucine and valine metabolism}}
 +
|width=100px|{{#pwImage:Pathway:WP5028|250px||Glycine metabolism, including IEMs}}
 +
|width=100px|{{#pwImage:Pathway:WP4157|250px||GABA metabolism (aka GHB)}}
 +
|width=100px|{{#pwImage:Pathway:WP5026|250px||Proline and hydroxyproline pathways}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4688|250px||Serine metabolism}}
 +
|width=100px|{{#pwImage:Pathway:WP5031|250px||Biotin metabolism, including IEMs}}
 +
|width=100px|{{#pwImage:Pathway:WP5037|250px||Riboflavin and CoQ disorders}}
 +
|width=100px|{{#pwImage:Pathway:WP4971|250px||Phosphoinositides metabolism}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP5030|250px||Ethylmalonic encephalopathy}}
|}
|}
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 75: 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:WP4535]] - Envelope proteins and their potential roles in EDMD physiopathology
 +
* [[Pathway:WP4540]] - Pathways Regulating Hippo Signaling
 +
* [[Pathway:WP4541]] - po-Merlin Signaling Dysregulation
 +
* [[Pathway:WP4545]] - Oxysterols derived from cholesterol
* [[Pathway:WP4549]] - Fragile X Syndrome
* [[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:WP4657]] - 22q11.2 Deletion Syndrome
 +
* [[Pathway:WP4673]] - Genes involved in male infertility
 +
* [[Pathway:WP4686]] - Leucine, isoleucine and valine metabolism
 +
* [[Pathway:WP4688]] - Serine metabolism
 +
* [[Pathway:WP4746]] - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
 +
* [[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

Image does not exist
Alzheimers Disease
Image does not exist
Amyotrophic lateral sclerosis (ALS) (Homo sapiens)
Image does not exist
ERK Pathway in Huntington's Disease
Image does not exist
Ciliopathies
Image does not exist
Fanconi Anemia Pathway (Homo sapiens)
Image does not exist
Fragile X Syndrome
Image does not exist
Joubert Syndrome
Image does not exist
MECP2 and Associated Rett Syndrome (Homo sapiens)
Image does not exist
Pathways Regulating Hippo Signaling
Image does not exist
Parkinsons Disease Pathway
Image does not exist
po-Merlin Signaling Dysregulation
Image does not exist
Prion disease pathway
Image does not exist
Rett syndrome causing genes
Image does not exist
Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
Image does not exist
Viral Acute Myocarditis (Homo sapiens)
Image does not exist
Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway
Image does not exist
Nitric oxide metabolism in cystic fibrosis
Image does not exist
Malignant pleural mesothelioma
Image does not exist
Cholesterol biosynthesis with skeletal dysplasias
Image does not exist
Nucleotide excision repair in xeroderma pigmentosum

Copy number variation syndromes

Image does not exist
1q21.1 copy number variation syndrome
Image does not exist
3q29 copy number variation syndrome
Image does not exist
22q11.2 copy number variation syndrome
Image does not exist
Prader-Willi and Angelman Syndrome
Image does not exist
7q11.23 copy number variation syndrome
Image does not exist
15q11.2 copy number variation syndrome
Image does not exist
15q13.3 copy number variation syndrome
Image does not exist
16p11.2 proximal deletion syndrome
Image does not exist
16p11.2 distal deletion syndrome

Laminopathies

Image does not exist
Interacting Laminopathic Pathways
Image does not exist
Lamin A-processing pathway (Homo sapiens)
Image does not exist
The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)
Image does not exist
The influence of laminopathies on Wnt signaling
Image does not exist
Envelope proteins and their potential roles in EDMD physiopathology

Disorders of sex development

Image does not exist
Genes involved in male infertility
Image does not exist
Kisspeptin/Kisspeptin Receptor System in the Ovary
Image does not exist
Mammalian disorder of sexual development
Image does not exist
Peroxiredoxin 2 induced ovarian failure
Image does not exist
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:

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