Woolly hair

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary woolly hair syndrome
Familial wooly hair syndrome
Wooly hair
Familial woolly hair syndrome
Hereditary wooly hair syndrome
Number of Symptoms 15
OrphanetNr: 170
OMIM Id: 194300
278150
604379
ICD-10: Q84.1
UMLs: C0343073
C0345427
MeSH: C536745
MedDRA: 10048017
Snomed: 254231002
52564001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
2
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
3
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
4
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
5
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
6
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
7
 (HPO:0011359) Dry hair 16 / 7739
8
 (HPO:0002225) Sparse pubic hair Occasional [Orphanet] 76 / 7739
9
 (HPO:0002224) Woolly hair Very frequent [Orphanet] 26 / 7739
10
 (HPO:0010719) Abnormality of hair texture Very frequent [Orphanet] 24 / 7739
11
 (HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
12
 (HPO:0002217) Slow-growing hair Frequent [Orphanet] 22 / 7739
13
 (HPO:0002208) Coarse hair 58 / 7739
14
 (HPO:0005599) Hypopigmentation of hair Frequent [Orphanet] 38 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: