U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypotrichosis 4(HYPT4)

MedGen UID:
413053
Concept ID:
C2750815
Disease or Syndrome
Synonyms: HYPOTRICHOSIS, MARIE UNNA TYPE, 1; HYPT4
 
Gene (location): HRURF (8p21.3)
 
Monarch Initiative: MONDO:0100522
OMIM®: 146550

Definition

Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), 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). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis See also MUHH2 (HYPT5; 612841), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13. [from OMIM]

Clinical features

From HPO
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Uncombable hair
MedGen UID:
348660
Concept ID:
C1860607
Finding
Hair that is disorderly, stands out from the scalp, and cannot be combed flat.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.

Term Hierarchy

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...