OMIM :
56
Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis, is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by Mansur et al., 2010).
See also MUHH2 (612841), which maps to chromosome 1.
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.
(146550)
MalaCards based summary :
Hypotrichosis 4, also known as
marie unna hereditary hypotrichosis 1, is related to
hypotrichosis and
hypotrichosis 5. An important gene associated with Hypotrichosis 4 is
HR (HR Lysine Demethylase And Nuclear Receptor Corepressor), and among its related pathways/superpathways is
Histidine metabolism. Related phenotypes are
alopecia and
sparse body hair
Disease Ontology :
12
A hypotrichosis that has material basis in a autosomal dominant mutation of HR on chromosome 8p21.3.
UniProtKB/Swiss-Prot :
73
Hypotrichosis 4: An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.