Marie Unna syndrome

MedGen UID:: 419706
•Concept ID:: C2931059
•: Disease or Syndrome

Synonym:	Marie Unna hereditary hypotrichosis
SNOMED CT:	Marie Unna syndrome (254234005); Marie Unna hereditary hypotrichosis (254234005); Marie Unna congenital hypotrichosis (254234005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	HRURF, EPS8L3

Monarch Initiative:	MONDO:0018631
Orphanet:	ORPHA444

Definition

A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. [from ORDO]