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Woolly hair
3 OMIM references -
4 associated genes
11 connected diseases
14 signs/symptoms
Disease Type of connection
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Cabezas syndrome
Inflammatory myofibroblastic tumor
Leber congenital amaurosis
Neuroblastoma
Pseudohypoaldosteronism type 2E
Richieri Costa-Pereira syndrome
Senior-Loken syndrome
Synonym(s):
- Familial woolly hair syndrome
- Familial wooly hair syndrome
- Hereditary woolly hair syndrome
- Hereditary wooly hair syndrome
- Wooly hair
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: C536745
Gene symbol UniProt reference OMIM reference
KRT71 Q3SY84608245
KRT74 Q7RTS7608248
LIPH Q8WWY8607365
LPAR6 P43657609239
Very frequent
- Abnormal hair texture / hair dysplasia
- Autosomal dominant inheritance
- Brittle hair / distrix / trichorrhexis
- Fine hair
- Woolly / frizzy hair

Frequent
- Decreased hair pigmentation / hypopigmentation of hair
- slow growth of the hair

Occasional
- Absent / decreased / thin eyebrows
- Autosomal recessive inheritance
- Cataract / lens opacification
- Decreased body hair / axillar / pubic hairlessness
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Retinal vascular anomalies / retinal telangiectasia
- Strabismus / squint