Trichothiodystrophy 3, Photosensitive malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Mental diseases
Aliases & Descriptions for Trichothiodystrophy 3, Photosensitive:
trichothiodystrophy 3, photosensitive:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Skin diseases, Mental diseases
OMIM:51 Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that... (616395) more...
MalaCards based summary: Trichothiodystrophy 3, Photosensitive, also known as trichothiodystrophy, complementation group a, is related to trichothiodystrophy 1, photosensitive, and has symptoms including decreased fertility, cataract and erythroderma. An important gene associated with Trichothiodystrophy 3, Photosensitive is GTF2H5 (General Transcription Factor IIH Subunit 5).
UniProtKB/Swiss-Prot:69 Trichothiodystrophy 3, photosensitive: 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.
Diseases in the Trichothiodystrophy 2, Photosensitive family:
Diseases related to Trichothiodystrophy 3, Photosensitive via text searches within MalaCards or GeneCards Suite gene sharing:
Clinical features from OMIM:616395
Human phenotypes related to Trichothiodystrophy 3, Photosensitive:63 (show all 10)
UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 3, Photosensitive:69
Clinvar genetic disease variations for Trichothiodystrophy 3, Photosensitive:5
Search GEO for disease gene expression data for Trichothiodystrophy 3, Photosensitive.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet