ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Pseudohypoaldosteronism type 2B

Ichthyosis - hypotrichosis - sclerosing cholangitis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	WNK4	(0.52)	CLDN1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2B		Ichthyosis - hypotrichosis - sclerosing cholangitis
	Synonym(s): - PHA2B		Synonym(s): - IHSC - NISCH syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare hepatic disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Ichthyosis - hypotrichosis - sclerosing cholangitis
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Autosomal recessive inheritance - Decreased body hair / axillar / pubic hairlessness - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) - Ichthyosis / ichthyosiform dermatitis - Splenomegaly Occasional - Acanthosis nigricans - Anodontia / oligodontia / hypodontia - Enamel anomaly - Portal hypertension
Pseudohypoaldosteronism type 2B
(no data available)