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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
Autosomal dominant hypohidrotic ectodermal dysplasia

TUBB4A EDAR
EDARADD
TRAF6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.72)
TRAF6



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
Autosomal dominant hypohidrotic ectodermal dysplasia
EDAR EDARADD TRAF6



Hypomyelination with atrophy of basal ganglia and cerebellum
Autosomal dominant hypohidrotic ectodermal dysplasia

Synonym(s):
- H-ABC

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

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
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


Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)