ALOPECIA UNIVERSALIS CONGENITA

General Information (adopted from Orphanet):

Synonyms, Signs: ATRICHIA, GENERALIZED
ALUNC
Number of Symptoms 4
OrphanetNr:
OMIM Id: 203655
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002289) Alopecia universalis 20 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(OMIM) No hair in hair follicles on skin biopsy 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ahmad et al. (1993) studied an inbred Pakistani kindred in which 9 males and 4 females had alopecia universalis as an isolated abnormality. The affected individuals were distributed in 7 related sibships. Skin biopsy from the scalp showed ...
Molecular genetics OMIM Ahmad et al. (1998) identified a homozygous missense mutation in the HR gene (602302.0001) in affected members of a Pakistani kindred with alopecia universalis. Ahmad et al. (1998) reported that human 'hairless' encodes a putative single zinc finger ...