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Autosomal recessive hypohidrotic ectodermal dysplasia
2 OMIM references -
3 associated genes
8 connected diseases
11 signs/symptoms
Disease Type of connection
Autosomal dominant hypohidrotic ectodermal dysplasia
Oligodontia
Odonto-onycho-dermal dysplasia
Schöpf-Schulz-Passarge syndrome
X-linked hypohidrotic ectodermal dysplasia
Herpetic encephalitis
FADD-related immunodeficiency
Oculootodental syndrome
Synonym(s):
- AR-HED
- Autosomal recessive anhidrotic ectodermal dysplasia
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: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: D053360
Gene symbol UniProt reference OMIM reference
EDAR Q9UNE0604095
EDARADD Q8WWZ3606603
WNT10A Q9GZT5606268
Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anodontia / oligodontia / hypodontia
- Autosomal recessive inheritance
- Dry / squaly skin / exfoliation
- Fine hair
- Hair and scalp anomalies
- Premature lost of decidious teeth

Frequent
- Alopecia
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Tooth shape anomaly