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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Autoimmune lymphoproliferative syndrome with recurrent infections
X-linked hypohidrotic ectodermal dysplasia

CASP8 EDA
EDA2R


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CASP8
(0.65)
EDA2R



Citations in the biomedical literature:


Autoimmune lymphoproliferative syndrome with recurrent infections
CASP8
X-linked hypohidrotic ectodermal dysplasia
EDA EDA2R



Autoimmune lymphoproliferative syndrome with recurrent infections
X-linked hypohidrotic ectodermal dysplasia

Synonym(s):
- ALPS with recurrent infections

Synonym(s):
- Christ-Siemens-Touraine syndrome
- X-linked anhidrotic ectodermal dysplasia
- XHED

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D053358

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


Autoimmune lymphoproliferative syndrome with recurrent infections

(no data available)