HYPOTRICHOSIS 3

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
HTSS2
HYPT3
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613981
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004782) Hypotrichosis of the scalp 7 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp ...
Clinical Description OMIM Wasif et al. (2011) described a 4-generation consanguineous Pakistani family with hypotrichosis limited to the scalp. The 14 affected individuals were described as having been born with sparse hair on the scalp. After ritual shaving, which is usually ...
Molecular genetics OMIM In a 4-generation consanguineous Pakistani family with autosomal dominant hypotrichosis of the scalp, Wasif et al. (2011) identified a heterozygous missense mutation in the KRT74 gene (D482N; 608248.0003). The mutation was not detected in 300 unrelated control individuals. ...