ALOPECIA, FAMILIAL FOCAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 104110
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:0002232) Patchy alopecia 4 / 7739
2
 (OMIM) Patchy hair loss 1 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
 (OMIM) Marked irreversible anagen-telogen transformation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Headington and Astle (1987) described a 14-year-old girl and her mother who had patchy hair loss present from early childhood. When studied in transverse section, biopsy specimens from both women showed marked anagen-telogen transformation that appeared to be ...