Monilethrix - CISMeF

Preferred Label : Monilethrix;

Symbol : MNLIX;

CISMeF acronym : MNLIX;

Type : Phenotype, molecular basis known;

Description : Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 83 gene (KRT83, 602765.0001); Caused by mutation in the keratin 81 gene (KRT81, 602153.0001); Caused by mutation in the keratin 86 gene (KRT86, 601928.0001).;

Prefixed ID : #158000;

Details

Origin ID

158000;

UMLS CUI

C0546966;

Automatic exact mappings (from CISMeF team)
- Congenital morphological disturbances of hair, not elsewhere classified [ICD-10 Sub-category]
- Congenital morphological disturbances of hair, not elsewhere classified [ICD-10 Sub-category (who)]
- KRT83 wt Allele [NCIt concept]
- Monilethrix [ICD-11 More detail]
- Monilethrix [HPO term]
- Pseudomonilethrix (disorder) [SNOMED CT concept]
- pseudomonilethrix [MeSH Supplementary Concept]
- pseudomonilethrix [MeSH concept]
Currated CISMeF NLP mapping
- Beaded hair (disorder) [SNOMED CT concept]
- Monilethrix [PASCAL descriptor]
- Monilethrix [NCIt concept]
- Monilethrix [ORDO Disease]
- monilethrix [DO Concept]
- monilethrix [Disease (Nov.)]
- monilethrix [MeSH Descriptor]
- monilethrix [MeSH concept]
- monilethrix [SNOMED Notion]
DO Cross reference
- monilethrix [DO Concept]
Genes related to phenotype
- Keratin 81, type II [OMIM gene]
- Keratin 83, type II [OMIM gene]
- Keratin 86, type II [OMIM gene]
HPO term(s)
- Abnormality of hair texture [HPO term]
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brittle hair [HPO term]
- Heterogeneous [HPO term]
- Hypotrichosis [HPO term]
- Infantile onset [HPO term]
- Keratosis pilaris [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Perifollicular hyperkeratosis [HPO term]
- Sparse hair [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Monilethrix [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Beaded hair (disorder) [SNOMED CT concept]
- Monilethrix [ORDO Disease]
- Monilethrix [NCIt concept]
- Monilethrix [PASCAL descriptor]
- Monilethrix [HPO term]
- monilethrix [SNOMED Notion]
- monilethrix [MeSH Descriptor]
- monilethrix [MeSH concept]
- monilethrix [DO Concept]
- monilethrix [Disease (Nov.)]

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