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Xeroderma pigmentosum complementation group A
1 OMIM reference -
1 associated gene
21 connected diseases
No signs/symptoms info
Disease Type of connection
COFS syndrome
Cockayne syndrome type 2
Cockayne syndrome type 1
Cockayne syndrome type 3
UV-sensitive syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Seckel syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Xeroderma pigmentosum complementation group E
Xeroderma pigmentosum complementation group C
Developmental delay with autism spectrum disorder and gait instability
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Mantle cell lymphoma
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
- XPA
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
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
XPA P23025611153
No signs/symptoms info available.