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Hypotrichosis-deafness syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hidrotic ectodermal dysplasia

1 OMIM reference -
1 associated gene
26 signs/symptoms

Hypotrichosis-deafness syndrome

Hidrotic ectodermal dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJB2	(0.59)	GJB6

Citations in the biomedical literature:

Hypotrichosis-deafness syndrome		Hidrotic ectodermal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Clouston syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

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

Hidrotic ectodermal dysplasia
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Alopecia - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Diffuse / generalised skin hyperpigmentation / melanoderma - Dysplastic / thick / grooved fingernails - Hairy patch - Irregular / in bands / reticular skin hyperpigmentation - Onycholysis - Thin / hypoplastic / hyperconvex fingernails Frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Fine hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Palmoplantar hyperkeratosis / keratoderma - Photophobia - Short stature / dwarfism / nanism Occasional - Defect / anomaly of lacrimal system - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Strabismus / squint - Syndactyly of fingers / interdigital palm - Terminal broadening / clubbing of toes - Upper limb polydactyly / hexadactyly
Hypotrichosis-deafness syndrome
(no data available)