Portal:RareDisease/FeaturedPathways

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== Rare diseases in general ==
== 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:WP4312|250px||Rett syndrome causing genes}}
+
|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:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
+
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
 +
|width=100px|{{#pwImage:Pathway:WP4803|250px||Ciliopathies}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
-
|width=100px|{{#pwImage:Pathway:WP4577|250px||WDR45 autophagy related pathway}}
+
|width=100px|{{#pwImage:Pathway:WP4656|250px||Joubert Syndrome}}
-
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
+
|width=100px; cell padding=50px|{{#pwImage:Pathway:WP3584|250px||MECP2 and Associated Rett Syndrome (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
+
|}
|}
{| style="margin: 10px"
{| 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}}
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
-
|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
 
-
|width=100px|{{#pwImage:Pathway:WP2371|250px||Parkinsons Disease Pathway}}
 
-
|width=100px|{{#pwImage:Pathway:WP2059|250px||Alzheimers Disease}}
 
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
+
|width=100px|{{#pwImage:Pathway:WP4312|250px||Rett syndrome causing genes}}
-
|width=100px|{{#pwImage:Pathway:WP4656|250px||Joubert Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4746|250px||Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism}}
|width=100px|{{#pwImage:Pathway:WP4746|250px||Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism}}
-
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
+
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP4577|250px||Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway}}
|}
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4947|250px||Nitric oxide metabolism in cystic fibrosis}}
 +
|width=100px|{{#pwImage:Pathway:WP5087|250px||Malignant pleural mesothelioma}}
 +
|width=100px|{{#pwImage:Pathway:WP4804|250px||Cholesterol biosynthesis with skeletal dysplasias}}
 +
|width=100px|{{#pwImage:Pathway:WP5114|250px||Nucleotide excision repair in xeroderma pigmentosum}}
 +
|}
 +
== Copy number variation syndromes ==
== Copy number variation syndromes ==
{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4905|250px||1q21.1 copy number variation syndrome}}
|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:WP4906|250px||3q29 copy number variation syndrome}}
-
|width=100px|{{#pwImage:Pathway:WP4657|250px||22q11.2 Deletion Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4657|250px||22q11.2 copy number variation syndrome}}
|width=100px|{{#pwImage:Pathway:WP3998|250px||Prader-Willi and Angelman 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 ==
== Laminopathies ==
{| style="margin: 10px"
{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP4844|250px||The influence of laminopathies on Wnt signaling}}
|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 ==
== Inborn errors of metabolism ==
{| style="margin: 10px"
{| style="margin: 10px"
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|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4292|250px||Sulphur Amino Acids}}
+
|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:WP4259|250px||Disorders of Folate Metabolism and Transport}}
|width=100px|{{#pwImage:Pathway:WP4288|250px||MTHFR deficiency (additonal pathway)}}
|width=100px|{{#pwImage:Pathway:WP4288|250px||MTHFR deficiency (additonal pathway)}}
Line 53: Line 112:
{| 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}}
Line 72: Line 131:
|width=100px|{{#pwImage:Pathway:WP4792|250px||Purine metabolism}}
|width=100px|{{#pwImage:Pathway:WP4792|250px||Purine metabolism}}
|width=100px|{{#pwImage:Pathway:WP4545|250px||Oxysterols derived from cholesterol}}
|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}}
|}
|}
-
== Disorders of sex development ==
 
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4524|250px||The alternative pathway of fetal androgen synthesis}}
+
|width=100px|{{#pwImage:Pathway:WP4686|250px||Leucine, isoleucine and valine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4673|250px||Genes involved in male infertility}}
+
|width=100px|{{#pwImage:Pathway:WP5028|250px||Glycine metabolism, including IEMs}}
-
|width=100px|{{#pwImage:Pathway:WP4842|250px||Mammalian disorder of sexual development}}
+
|width=100px|{{#pwImage:Pathway:WP4157|250px||GABA metabolism (aka GHB)}}
-
|width=100px|{{#pwImage:Pathway:WP4871|250px||Kisspeptin/Kisspeptin Receptor System in the Ovary}}
+
|width=100px|{{#pwImage:Pathway:WP5026|250px||Proline and hydroxyproline pathways}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
+
|width=100px|{{#pwImage:Pathway:WP4686|250px||Leucine, isoleucine and valine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
+
|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}}
|}
|}
-
== CAKUT (congenital anomalies of the kidney and urinary tract)==
 
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4838|250px||Regucalcin in proximal tubule epithelial kidney cells}}
+
|width=100px|{{#pwImage:Pathway:WP4688|250px||Serine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4823|250px||Genes controlling renal nephrogenesis}}
+
|width=100px|{{#pwImage:Pathway:WP5031|250px||Biotin metabolism, including IEMs}}
-
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
+
|width=100px|{{#pwImage:Pathway:WP5037|250px||Riboflavin and CoQ disorders}}
-
|width=100px|{{#pwImage:Pathway:WP4818|250px||Conversion of Angiotensinogen to Angiotensin II}}
+
|width=100px|{{#pwImage:Pathway:WP4971|250px||Phosphoinositides metabolism}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP5030|250px||Ethylmalonic encephalopathy}}
|}
|}
Line 101: Line 165:
* [[Pathway:WP3995]] - Prion disease pathway
* [[Pathway:WP3995]] - Prion disease pathway
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
-
* [[Pathway:WP4153]] - Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
+
* [[Pathway:WP4153]] - Degradation pathway of sphingolipids, including diseases
* [[Pathway:WP4156]] - Disorders of Phenylalanine and Tetrahydrobiopterin
* [[Pathway:WP4156]] - Disorders of Phenylalanine and Tetrahydrobiopterin
 +
* [[Pathway:WP4157]] - GABA metabolism (aka GHB)
* [[Pathway:WP4220]] - Neurotransmitter Disorders
* [[Pathway:WP4220]] - Neurotransmitter Disorders
* [[Pathway:WP4224]] - Purine Disorders
* [[Pathway:WP4224]] - Purine Disorders
Line 111: Line 176:
* [[Pathway:WP4271]] - Vitamin B12 Disorders
* [[Pathway:WP4271]] - Vitamin B12 Disorders
* [[Pathway:WP4288]] - MTHFR deficiency
* [[Pathway:WP4288]] - MTHFR deficiency
-
* [[Pathway:WP4292]] - Sulphur Amino Acids
+
* [[Pathway:WP4292]] - Methionine metabolism leading to sulfur amino acids and related disorders
* [[Pathway:WP4297]] - Thiamine Disorders
* [[Pathway:WP4297]] - Thiamine Disorders
* [[Pathway:WP4298]] - Viral Acute Myocarditis
* [[Pathway:WP4298]] - Viral Acute Myocarditis
Line 131: Line 196:
* [[Pathway:WP4545]] - Oxysterols derived from cholesterol
* [[Pathway:WP4545]] - Oxysterols derived from cholesterol
* [[Pathway:WP4549]] - Fragile X Syndrome
* [[Pathway:WP4549]] - Fragile X Syndrome
-
* [[Pathway:WP4577]] - WDR45 autophagy related pathway
+
* [[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:WP4657]] - 22q11.2 Deletion Syndrome
* [[Pathway:WP4657]] - 22q11.2 Deletion Syndrome
* [[Pathway:WP4673]] - Genes involved in male infertility
* [[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:WP4746]] - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
* [[Pathway:WP4792]] - Purine metabolism
* [[Pathway:WP4792]] - Purine metabolism
 +
* [[Pathway:WP4803]] - Ciliopathies
 +
* [[Pathway:WP4804]] - Cholesterol biosynthesis with skeletal dysplasias
* [[Pathway:WP4814]] - Somatic Sex determination
* [[Pathway:WP4814]] - Somatic Sex determination
-
* [[Pathway:WP4818]] - Conversion of Angiotensinogen to Angiotensin II
 
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
* [[Pathway:WP4830]] - GDNF/RET signalling axis
* [[Pathway:WP4830]] - GDNF/RET signalling axis
* [[Pathway:WP4835]] - Peroxiredoxin 2 induced ovarian failure
* [[Pathway:WP4835]] - Peroxiredoxin 2 induced ovarian failure
-
* [[Pathway:WP4838]] - Regucalcin in proximal tubule epithelial kidney cells
 
* [[Pathway:WP4842]] - Mammalian disorder of sexual development
* [[Pathway:WP4842]] - Mammalian disorder of sexual development
* [[Pathway:WP4844]] - The influence of laminopathies on Wnt signaling
* [[Pathway:WP4844]] - The influence of laminopathies on Wnt signaling
Line 149: Line 217:
* [[Pathway:WP4905]] - 1q21.1 copy number variation syndrome
* [[Pathway:WP4905]] - 1q21.1 copy number variation syndrome
* [[Pathway:WP4906]] - 3q29 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
Image does not exist
The alternative pathway of fetal androgen synthesis
Image does not exist
Kallmann syndrome

CAKUT (congenital anomalies of the kidney and urinary tract)

Image does not exist
Development of uretric collection system
Image does not exist
GDNF/RET signalling axis
Image does not exist
Genes controlling renal nephrogenesis
Image does not exist
Nephrogenesis

Lipodystrophy, dyslipidemia and hyperlipidemia

Image does not exist
Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
Image does not exist
Familial hyperlipidemia type 1
Image does not exist
Familial hyperlipidemia type 2
Image does not exist
Familial hyperlipidemia type 3
Image does not exist
Familial hyperlipidemia type 4
Image does not exist
Familial hyperlipidemia type 5
Image does not exist
Acquired partial lipodystrophy / Barraquer-Simons syndrome
Image does not exist
Progeria-associated lipodystrophy
Image does not exist
Familial partial lipodystrophy (FPLD)
Image does not exist
Congenital generalized lipodystrophy (CGL)

Inborn errors of metabolism

Image does not exist
Molybdenum (Moco) cofactor biosynthesis
Image does not exist
Cysteine and Methionine catabolism
Image does not exist
Vitamin B12 Disorders
Image does not exist
Thiamine Disorders
Image does not exist
Methionine metabolism leading to sulfur amino acids and related disorders
Image does not exist
Disorders of Folate Metabolism and Transport
Image does not exist
MTHFR deficiency (additonal pathway)
Image does not exist
Vitamine B6-Dependent and Responsive Disorders
Image does not exist
Disorders of the Krebs Cycle
Image does not exist
Degradation pathway of sphingolipids, including diseases
Image does not exist
Neurotransmitter Disorders
Image does not exist
Purine Disorders
Image does not exist
Pyrimidine Disorders
Image does not exist
Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
Image does not exist
Tyrosine Metabolism
Image does not exist
Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
Image does not exist
Cerebral Organic Acidurias
Image does not exist
Glycosylation and related congenital defects
Image does not exist
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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