Trichothiodystrophy (TTD)
Alias:
Ttd
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Trichothiodystrophy Syndromes
Amish Brittle Hair Syndrome
Bids Syndrome
Pibids
Ibids
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Trichothiodystrophy, also known as ttd, is related to trichothiodystrophy 1, photosensitive and trichothiodystrophy 4, nonphotosensitive. An important gene associated with Trichothiodystrophy is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Infectious disease and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include skin and eye, and related phenotypes are spasticity and abnormal pyramidal sign
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AR
XL
XLD
Newborn
1-9/1000000
9
35
5
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Count
No data available
Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
Comparison
Al agent
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