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Xeroderma pigmentosum complementation group D
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
COFS syndrome
Trichothiodystrophy
UV-sensitive syndrome
Xeroderma pigmentosum complementation group B
Xeroderma pigmentosum complementation group G
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Familial congenital mirror movements
Hereditary breast and ovarian cancer syndrome
Amyotrophic lateral sclerosis
Synonym(s):
- XPD
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ERCC2 P18074126340
No signs/symptoms info available.