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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
4 associated genes
14 signs/symptoms

Pseudohypoaldosteronism type 2E

Woolly hair

CUL3	(UniProt - OMIM)		KRT71	(UniProt - OMIM)
			KRT74	(UniProt - OMIM)
			LIPH	(UniProt - OMIM)
			LPAR6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	KRT71

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Woolly hair
	Synonym(s): - PHA2E		Synonym(s): - Familial woolly hair syndrome - Familial wooly hair syndrome - Hereditary woolly hair syndrome - Hereditary wooly hair syndrome - Wooly hair

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C536745

Woolly hair
	Very frequent - Abnormal hair texture / hair dysplasia - Autosomal dominant inheritance - Brittle hair / distrix / trichorrhexis - Fine hair - Woolly / frizzy hair Frequent - Decreased hair pigmentation / hypopigmentation of hair - slow growth of the hair Occasional - Absent / decreased / thin eyebrows - Autosomal recessive inheritance - Cataract / lens opacification - Decreased body hair / axillar / pubic hairlessness - Pupillary anomalies / mydriasis / myosis / tonic pupil - Retinal vascular anomalies / retinal telangiectasia - Strabismus / squint
Pseudohypoaldosteronism type 2E
(no data available)