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Pseudohypoaldosteronism type 2E

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Arthrogryposis - renal dysfunction - cholestasis

2 OMIM references -
2 associated genes
42 signs/symptoms

Pseudohypoaldosteronism type 2E

Arthrogryposis - renal dysfunction - cholestasis

CUL3	(UniProt - OMIM)		VIPAS39	(UniProt - OMIM)
			VPS33B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	VIPAS39

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Arthrogryposis - renal dysfunction - cholestasis
	Synonym(s): - PHA2E		Synonym(s): - ARC syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535382

Arthrogryposis - renal dysfunction - cholestasis
	Very frequent - Arthrogryposis - Autosomal recessive inheritance - Death in infancy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Platelets function anomaly - Renal tubular defect / tubulopathy - Restricted joint mobility / joint stiffness / ankylosis Frequent - Aminoacid metabolism anomalies / aminoaciduria - Diabetes insipidus - Fever / chilling - Functional anomalies of the liver and the biliary tract - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Ichthyosis / ichthyosiform dermatitis - Malabsorption / chronic diarrhea / steatorrhea - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Mutiple fractures / bone fragility - Oligoamnios - Pes talus - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Structural anomalies of the liver and the biliary tract - Talipes-valgus - Talipes-varus / metatarsal varus Occasional - Anaemia - Beaked nose - Cardiac septal defect - Cirrhosis - Corpus callosum / septum pellucidum total / partial agenesis - Depressed nasal bridge - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypothyroidy - Kyphosis - Loose skin / skin relaxation / excess skin / creases - Pectus carinatum - Sensorineural deafness / hearing loss - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Urinary / renal lithiasis / kidney stones / nephritic colic
Pseudohypoaldosteronism type 2E
(no data available)