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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 2

Hypotrichosis simplex

7 OMIM references -
6 associated genes
12 signs/symptoms

Pseudohypoaldosteronism type 2E

Hypotrichosis simplex

CUL3	(UniProt - OMIM)		APCDD1	(UniProt - OMIM)
			DSG4	(UniProt - OMIM)
			LIPH	(UniProt - OMIM)
			LPAR6	(UniProt - OMIM)
			RPL21	(UniProt - OMIM)
			SNRPE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3 CUL3	(0.63) (0.63)	RPL21 SNRPE

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Hypotrichosis simplex
	Synonym(s): - PHA2E		Synonym(s): - Hereditary hypotrichosis simplex

	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): - Diseases of the skin and subcutaneous tissue -

	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: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C537160

Hypotrichosis simplex
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Autosomal recessive inheritance - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Frequent - Lanugo - Woolly / frizzy hair Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching
Pseudohypoaldosteronism type 2E
(no data available)