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anhidrotic ectodermal dysplasia
heterogeneous group of developmental disorders
Pathology:
- affects tissues of ectodermal origin
- abnormal development of 2 or more ectodermal structures such as hair, teeth, nails & sweat glands, with or without any additional clinical signs
Genetics:
- associated with defects in NFKBIA (autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency)
- associated with defects in IKBKG (X-linked ectodermal dysplasia anhidrotic with immunodeficiency) (anhidrotic ectodermal dysplasia with immunodeficiency- osteopetrosis-lymphedema)
- associated with defects in EDAR (autosomal recessive)
- associated with defects in EDARADD
Clinical manifestations:
- each combination of clinical features represents a different type of ectodermal dysplasia
- sparse hair (atrichosis or hypotrichosis)
- abnormal or missing teeth & the inability to sweat due to the absence of sweat glands
Related
ectodysplasin-A receptor-associated adapter protein; EDAR-associated death domain protein; protein crinkled homolog (EDARADD)
ectodysplasin-A; ectodermal dysplasia protein; EDA protein; contains: ectodysplasin-A, membrane form; contains: ectodysplasin-A, secreted form (EDA, ED1, EDA2)
tumor necrosis factor receptor superfamily member EDAR; Anhidrotic ectodysplasin receptor 1; ectodysplasin-A receptor; EDA-A1 receptor; ectodermal dysplasia receptor; downless homolog (EDAR, DL)
General
ectodermal dysplasia
developmental disorder
Database Correlations
OMIM correlations
MORBIDMAP 604095
References
OMIM :accession 604095