HYPOTRICHOSIS 4

General Information (adopted from Orphanet):

Synonyms, Signs: MARIE UNNA HEREDITARY HYPOTRICHOSIS 1
HYPOTRICHOSIS, MARIE UNNA TYPE, 1
HYPT4
MUHH1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 146550
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:0001006) Hypotrichosis 219 / 7739
2
(HPO:0001596) Alopecia 162 / 7739
3
(OMIM) Coarse, wiry, twisted hair in early childhood 1 / 7739
4
(OMIM) Little or no eyebrows, eyelashes or body hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Peachey and Wells (1971) reported 3 kindreds, each with several members with hereditary hypotrichosis of the type reported by Marie Unna (Unna, 1925). Affected persons were born with little or no eyebrows, eyelashes, or body hair. Characteristically coarse, ...
Molecular genetics OMIM In affected members of a large Han Chinese family with Marie Unna hypotrichosis mapping to chromosome 8p21, Wen et al. (2009) identified heterozygosity for an initiation codon mutation in an ORF (which they designated U2HR) in the 5-prime ...