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monilethrix

Genetics: 1) autosomal dominant hair disorder 2) caused by defects in the KRTHB1, KRTHB3, KRT86 genes Clinical manifestations: 1) alopecia 2) follicular papules 3) affected hairs have uniform elliptical nodes of normal thickness easily breaks 4) generally only the scalp is involved 5) in severe cases, the secondary sexual hair, eyebrows, eyelashes, and nails may be affected

Related

keratin, type 2 cuticular Hb1; type II hair keratin Hb1; keratin, hair, basic, 1; ghHKb1; ghHb1; keratin-81; K81; K2.9; MLN 137 (KRT81, KRTHB1, MLN137) keratin, type II cuticular Hb3; type II hair keratin Hb3; keratin-83; K83; K2.10 (KRT83 KRTHB3)

General

genetic disease of the hair scalp disorder

Database Correlations

OMIM 158000

References

  1. UniProt :accession Q9UBU7
  2. OMIM :accession 158000