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trichothiodystrophy 4, nonphotosensitive

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
Uniprot Description A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity.
Mondo Term and Equivalent IDs
MONDO:0021013:  trichothiodystrophy 4, nonphotosensitive
NCIT:C146899: 
SCTID:403796005: