WOOLLY HAIR, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: ADWH
Number of Symptoms 8
OrphanetNr:
OMIM Id: 194300
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:0002217) Slow-growing hair 22 / 7739
2
(HPO:0002208) Coarse hair 58 / 7739
3
(HPO:0011359) Dry hair 16 / 7739
4
(OMIM) Tapered distal end of hair 2 / 7739
5
(OMIM) Tightly curled scalp hair 1 / 7739
6
(OMIM) Dystrophic anagen hairs 1 / 7739
7
(OMIM) Knotted hairs 1 / 7739
8
(OMIM) Twisted hair shaft 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after ...
Clinical Description OMIM Mohr (1932) reported a Norwegian kindred in which many members had hair that was short, tightly curled, and woolly, resembling the hair of black persons. Mohr (1932) considered black admixture very unlikely in this family. Gossage (1907) reported ...
Molecular genetics OMIM In affected individuals of a Pakistani family segregating autosomal dominant woolly hair mapping to chromosome 12q13, Shimomura et al. (2010) identified heterozygosity for a missense mutation (608248.0001) in the KRT74 gene.

In 9 affected members of ...