Portal:RareDisease/FeaturedPathways

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{| style="margin: 10px"
{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP4947|250px||NO metabolism in cystic fibrosis}}
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|width=100px|{{#pwImage:Pathway:WP4947|250px||Nitric oxide metabolism in cystic fibrosis}}
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|width=100px|{{#pwImage:Pathway:WP5087|250px||Malignant pleural mesothelioma}}
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|width=100px|{{#pwImage:Pathway:WP4804|250px||Cholesterol biosynthesis with skeletal dysplasias}}
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|width=100px|{{#pwImage:Pathway:WP5114|250px||Nucleotide excision repair in xeroderma pigmentosum}}
|}
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|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
|}
|}
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== Disorders of sex development ==
== Disorders of sex development ==
{| style="margin: 10px"
{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
|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: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)==
== CAKUT (congenital anomalies of the kidney and urinary tract)==
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|width=100px|{{#pwImage:Pathway:WP5052|250px||Nephrogenesis}}
|width=100px|{{#pwImage:Pathway:WP5052|250px||Nephrogenesis}}
|}
|}
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 +
== Lipodystrophy, dyslipidemia and hyperlipidemia ==
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{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP5105|250px||Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia}}
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|width=100px|{{#pwImage:Pathway:WP5108|250px||Familial hyperlipidemia type 1}}
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|width=100px|{{#pwImage:Pathway:WP5109|250px||Familial hyperlipidemia type 2}}
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|width=100px|{{#pwImage:Pathway:WP5110|250px||Familial hyperlipidemia type 3}}
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|}
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{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP5111|250px||Familial hyperlipidemia type 4}}
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|width=100px|{{#pwImage:Pathway:WP5112|250px||Familial hyperlipidemia type 5}}
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|width=100px|{{#pwImage:Pathway:WP5104|250px||Acquired partial lipodystrophy / Barraquer-Simons syndrome}}
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|width=100px|{{#pwImage:Pathway:WP5103|250px||Progeria-associated lipodystrophy}}
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|}
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{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP5102|250px||Familial partial lipodystrophy (FPLD)}}
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|width=100px|{{#pwImage:Pathway:WP5101|250px||Congenital generalized lipodystrophy (CGL)}}
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|}
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== Inborn errors of metabolism ==
== Inborn errors of metabolism ==
{| style="margin: 10px"
{| style="margin: 10px"
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{| style="margin: 10px"
{| style="margin: 10px"
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|width=100px|{{#pwImage:Pathway:WP4292|250px||Sulphur Amino Acids}}
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|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)}}
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{| 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}}
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|width=100px|{{#pwImage:Pathway:WP4153|250px||Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses}}
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|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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* [[Pathway:WP3995]] - Prion disease pathway
* [[Pathway:WP3995]] - Prion disease pathway
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
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* [[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:WP4157]] - GABA metabolism (aka GHB)
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* [[Pathway:WP4271]] - Vitamin B12 Disorders
* [[Pathway:WP4271]] - Vitamin B12 Disorders
* [[Pathway:WP4288]] - MTHFR deficiency
* [[Pathway:WP4288]] - MTHFR deficiency
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* [[Pathway:WP4292]] - Sulphur Amino Acids
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* [[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
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* [[Pathway:WP4792]] - Purine metabolism
* [[Pathway:WP4792]] - Purine metabolism
* [[Pathway:WP4803]] - Ciliopathies
* [[Pathway:WP4803]] - Ciliopathies
 +
* [[Pathway:WP4804]] - Cholesterol biosynthesis with skeletal dysplasias
* [[Pathway:WP4814]] - Somatic Sex determination
* [[Pathway:WP4814]] - Somatic Sex determination
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
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* [[Pathway:WP4940]] - 15q11.2 copy number variation syndrome
* [[Pathway:WP4940]] - 15q11.2 copy number variation syndrome
* [[Pathway:WP4942]] - 15q13.3 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:WP4949]] - 16p11.2 proximal deletion syndrome
* [[Pathway:WP4950]] - 16p11.2 distal deletion syndrome
* [[Pathway:WP4950]] - 16p11.2 distal deletion syndrome
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* [[Pathway:WP5052]] - Nephrogenesis
* [[Pathway:WP5052]] - Nephrogenesis
* [[Pathway:WP5053]] - Development of uretric collection system
* [[Pathway:WP5053]] - Development of uretric collection system
 +
* [[Pathway:WP5074]] - Kallmann syndrome
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* [[Pathway:WP5087]] - Malignant pleural mesothelioma
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* [[Pathway:WP5101]] - Congenital generalized lipodystrophy (CGL)
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* [[Pathway:WP5102]] - Familial partial lipodystrophy (FPLD)
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* [[Pathway:WP5103]] - Progeria-associated lipodystrophy
 +
* [[Pathway:WP5104]] - Acquired partial lipodystrophy / Barraquer-Simons syndrome
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* [[Pathway:WP5105]] - Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia
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* [[Pathway:WP5108]] - Familial hyperlipidemia type 1
 +
* [[Pathway:WP5109]] - Familial hyperlipidemia type 2
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* [[Pathway:WP5110]] - Familial hyperlipidemia type 3
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* [[Pathway:WP5111]] - Familial hyperlipidemia type 4
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* [[Pathway:WP5112]] - Familial hyperlipidemia type 5
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* [[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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