ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

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

X-linked hypohidrotic ectodermal dysplasia

Recurrent infection due to specific granule deficiency

EDA	(UniProt - OMIM)		CEBPE	(UniProt - OMIM)
EDA2R	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EDA2R	(0.63)	CEBPE

Citations in the biomedical literature:

X-linked hypohidrotic ectodermal dysplasia		Recurrent infection due to specific granule deficiency
	Synonym(s): - Christ-Siemens-Touraine syndrome - X-linked anhidrotic ectodermal dysplasia - XHED		Synonym(s): - Neutrophil-specific granule deficiency

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D053358		External references: 1 OMIM reference - No MeSH references

X-linked hypohidrotic ectodermal dysplasia
	Very frequent - Absent / decreased / thin eyebrows - Complete / partial microdontia - Decreased body hair / axillar / pubic hairlessness - Delayed dentition / eruption of teeth / lack of eruption of teeth - Flattened nose - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Protruding lips Frequent - Frontal bossing / prominent forehead - X-linked recessive inheritance Occasional - Chronic arterial hypertension - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Insulin-dependent / type 1 diabetes - Terminal / third phalangeal bone of fingers hypoplasia
Recurrent infection due to specific granule deficiency
(no data available)