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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Monilethrix
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Monilethrix
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Monilethrix
Skin and Connective Tissue Diseases > Skin Diseases > Hair Diseases > Monilethrix

Término preferido

Monilethrix  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • Nodose Hair

En otras lenguas

  • Monilethrix

    francés

  • Aplasie moniliforme
  • Syndrome de Sabouraud

URI

http://data.loterre.fr/ark:/67375/JVR-QHSKDX9X-K

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RDF/XML TURTLE JSON-LD Creado 6/7/09, última modificación 18/6/15