| Descriptor English: | Monilethrix | ||||||
| Descriptor Spanish: |
Moniletrix
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| Descriptor Portuguese: | Monilétrix | ||||||
| Descriptor French: | Monilethrix | ||||||
| Entry term(s): |
Hair, Nodose Hairs, Nodose Monilethrices Nodose Hair Nodose Hairs |
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| Tree number(s): |
C16.131.077.592 C16.320.850.647 C17.800.329.984 C17.800.827.602 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D056734 | ||||||
| Scope note: | Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Hair Diseases (1963-2009) |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| DeCS ID: | 53552 | ||||||
| Unique ID: | D056734 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 | ||||||
| Revision Date: | 2015/06/18 |
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Monilethrix
- Preferred
| Concept UI |
M0528912 |
| Scope note | Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. |
| Preferred term | Monilethrix |
| Entry term(s) |
Hair, Nodose Hairs, Nodose Monilethrices Nodose Hair Nodose Hairs |
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