Details of Disease

General Information of Disease (ID: DIS6XNFT)

Disease Name Trichothiodystrophy 4, nonphotosensitive
Synonyms
BIDS syndrome; trichothiodystrophy-neurocutaneous syndrome; hair-brain syndrome; Amish brittle hair brain syndrome; trichothiodystrophy, nonphotosensitive 1; nonphotosensitive trichothiodystrophy; MPLKIP nonphotosensitive trichothiodystrophy; Pollitt syndrome; nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP; TTD4; trichothiodystrophy 4, nonphotosensitive
Definition A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
Disease Hierarchy
DISOMQD2: Trichothiodystrophy
DIS6XNFT: Trichothiodystrophy 4, nonphotosensitive
Disease Identifiers
MONDO ID
MONDO_0021013
MESH ID
C536556
UMLS CUI
C1313961
OMIM ID
234050
MedGen ID
272036

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MPLKIP OTV7BX5A Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.