ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Pseudohypoaldosteronism type 2E

Ichthyosis hystrix of Curth-Macklin


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	KRT1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Ichthyosis hystrix of Curth-Macklin
	Synonym(s): - PHA2E		Synonym(s): - Ichthyosis hystrix, Curth-Macklin type

	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: <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: 1 OMIM reference - 1 MeSH reference: C536088

Ichthyosis hystrix of Curth-Macklin
	Very frequent - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Ichthyosis / ichthyosiform dermatitis Frequent - Abnormal fingernails - Contractures / cramps / trismus / tetania / claudication / opisthotonos Occasional - Gangrena / necrosis
Pseudohypoaldosteronism type 2E
(no data available)