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Hypotrichosis 1(HHS; HYPT1)

MedGen UID:
1644234
Concept ID:
C4551976
Disease or Syndrome
Synonyms: Hereditary hypotrichosis simplex; HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY
 
Gene (location): APCDD1 (18p11.22)
 
Monarch Initiative: MONDO:0011549
OMIM®: 605389

Definition

Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, such as HYPT1, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010). Genetic Heterogeneity of Nonsyndromic Hypotrichosis See also HYPT2 (146520), caused by mutation in the CDSN gene (602593) on chromosome 6p21; HYPT3 (613981), caused by mutation in the KRT74 gene (608248) on chromosome 12q13; HYPT4 (146550), caused by mutation in the HRURF gene (619257) on chromosome 8p21; HYPT5 (612841), caused by mutation in the EPS8L3 gene (614989) on chromosome 1p13; HYPT6 (607903), caused by mutation in the DSG4 gene (607892) on chromosome 18q12; HYPT7 (604379), caused by mutation in the LIPH gene (607365) on chromosome 3q27; HYPT8 (278150), caused by mutation in the LPAR6 gene (609239) on chromosome 13q14; HYPT9 (614237), mapped to chromosome 10q11.23-q22.3; HYPT10 (614238), mapped to chromosome 7p22.3-p21.3; HYPT11 (615059), caused by mutation in the SNRPE gene (128260) on chromosome 1q32; HYPT12 (615885), caused by mutation in the RPL21 gene (603636) on chromosome 13q12; HYPT13 (615896), caused by mutation in the KRT71 gene (608245) on chromosome 12q13; HYPT14 (618275), caused by mutation in the LSS gene (600909) on chromosome 21q22; and HYPT15 (620177), caused by mutation in the C3ORF52 gene (611956) on chromosome 3q13. [from OMIM]

Clinical features

From HPO
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormality of the nail.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Reduced number or density of pubic hair.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

Ramírez-Marín HA, Tosti A
Expert Opin Emerg Drugs 2022 Dec;27(4):379-387. Epub 2022 Nov 21 doi: 10.1080/14728214.2022.2149735. PMID: 36408593
York K, Meah N, Bhoyrul B, Sinclair R
Expert Opin Pharmacother 2020 Apr;21(5):603-612. Epub 2020 Feb 17 doi: 10.1080/14656566.2020.1721463. PMID: 32066284
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111

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