Hypotrichosis 8

Preferred Label : Hypotrichosis 8;

Symbol : HYPT8;

CISMeF acronym : ARWH1; HYPT8; LAH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypotrichosis, localized, autosomal recessive 3; LAH3;

Included titles and symbols : Woolly hair, autosomal recessive 1, with or without hypotrichosis; ARWH1;

Description : Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006). Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis while others have woolly scalp hair (Khan et al., 2011). Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998). - Genetic Heterogeneity of Hypotrichosis and Woolly Hair For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; 607903). Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; 604379) is caused by mutation in the LIPH gene (607365) and is allelic to autosomal recessive localized hypotrichosis (LAH2). An autosomal dominant form of woolly hair (ADWH; 194300) is caused by mutation in the KRT74 gene (608248).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysophosphatidic acid receptor 6 gene (P2RY5, 609239.0001);

Prefixed ID : #278150;

Details

Origin ID

278150;

UMLS CUI

C3279470;

Automatic exact mappings (from CISMeF team)
- hypotrichosis, localized, autosomal recessive, 3 [MeSH concept]
- hypotrichosis, localized, autosomal recessive, 3 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- hypotrichosis 8 [DO Concept]
DO Cross reference
- hypotrichosis 8 [DO Concept]
Genes related to phenotype
- Lysophosphatidic acid receptor 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blond hair [HPO term]
- Coarse hair [HPO term]
- Comedo [HPO term]
- Dry hair [HPO term]
- Fair hair [HPO term]
- Hypotrichosis [HPO term]
- Nail pits [HPO term]
- Ridged nail [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse axillary hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Usually autosomal dominant [HPO term]
- Woolly hair [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Hyperhidrosis [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
- Woolly hair [ORDO Disease]
Related ORDO disease(s)
- Woolly hair [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypotrichosis 8 [DO Concept]
- hypotrichosis, localized, autosomal recessive, 3 [MeSH Supplementary Concept]
- hypotrichosis, localized, autosomal recessive, 3 [MeSH concept]

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