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Trichothiodystrophy
4 associated genes
31 connected diseases
No signs/symptoms info
Disease Type of connection
COFS syndrome
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group D
Precursor B-cell acute lymphoblastic leukemia
UV-sensitive syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Xeroderma pigmentosum complementation group G
Precursor T-cell acute lymphoblastic leukemia
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Chronic myeloid leukemia
Distal 22q11.2 microdeletion syndrome
Xeroderma pigmentosum complementation group C
Burkitt lymphoma
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Familial congenital mirror movements
Hereditary breast and ovarian cancer syndrome
Amyotrophic lateral sclerosis
BOR syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare skin disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
(no data available)
External references:
No OMIM references
2 MeSH references: C536559 / D054463
Gene symbol UniProt reference OMIM reference
ERCC2 P18074126340
ERCC3 P19447133510
GTF2H5 Q6ZYL4608780
MPLKIP Q8TAP9609188
No signs/symptoms info available.