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Total Hypotrichosis, Mari type(HYPT7)

MedGen UID:
322969
Concept ID:
C1836672
Disease or Syndrome
Synonyms: Alopecia Universalis Congenita, Mari type; HYPOTRICHOSIS 7; HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; HYPT7; WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: LIPH
Cytogenetic location: 3q27.2
OMIM: 604379

Definition

Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair. Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
[from GHR]

Clinical features

Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.
Abnormality of the sweat gland
MedGen UID:
11679
Concept ID:
C0038986
Disease or Syndrome
Diseases of the SWEAT GLANDS.
Sparse eyebrow
MedGen UID:
500888
Concept ID:
CN000501
Finding
Decreased density/number and/or decreased diameter of eyebrow hairs.

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