Cytoscape Web
Click node...

X-linked hypohidrotic ectodermal dysplasia
1 OMIM reference -
2 associated genes
11 connected diseases
14 signs/symptoms
Disease Type of connection
Oligodontia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Autoimmune lymphoproliferative syndrome with recurrent infections
FADD-related immunodeficiency
Oculootodental syndrome
Autoimmune lymphoproliferative syndrome
Familial isolated dilated cardiomyopathy
Immunodeficiency due to an early component of complement deficiency
Recurrent infection due to specific granule deficiency
Synonym(s):
- Christ-Siemens-Touraine syndrome
- X-linked anhidrotic ectodermal dysplasia
- XHED
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
External references:
1 OMIM reference -
1 MeSH reference: D053358
Gene symbol UniProt reference OMIM reference
EDA Q92838300451
EDA2R Q9HAV5300276
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