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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Primary biliary cirrhosis
Autosomal dominant hypohidrotic ectodermal dysplasia

IL12A EDAR
IL12RB1 EDARADD
IRF5 TRAF6
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF5
(0.65)
TRAF6



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Autosomal dominant hypohidrotic ectodermal dysplasia
EDAR EDARADD TRAF6



Primary biliary cirrhosis
Autosomal dominant hypohidrotic ectodermal dysplasia

Synonym(s):
- Hanot syndrome

Synonym(s):
- AD-HED
- Autosomal dominant anhidrotic ectodermal dysplasia

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

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Autosomal dominant hypohidrotic ectodermal dysplasia

Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Premature lost of decidious teeth
- Thin skin
- Tooth shape anomaly

Frequent
- Abnormal fingernails
- Alveolysis / paraodontitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Eczema
- Flattened nose
- Frontal bossing / prominent forehead
- Malignant hyperthermia
- Thick lips


Primary biliary cirrhosis

(no data available)