ORPHA:718047
Combined immunodeficiency due to polymerase delta deficiency
Synonyms: CID due to polymerase delta deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to polymerase delta deficiency | CID due to polymerase delta deficiency |
| fr | Déficit immunitaire combiné par déficit en polymérase delta | CID par déficit en polymérase delta · DIC par déficit en polymérase delta |
| de | Kombinierter Immundefekt durch Polymerase-Delta-Mangel | CID durch POLD1-Defizienz · POLD1-Defekt |
| es | Inmunodeficiencia combinada por deficiencia de polimerasa delta | CID por deficiencia de polimerasa delta · IDC por deficiencia de polimerasa delta |
| it | Immunodeficienza combinata da deficit della polimerasi delta | CID da deficit della polimerasi delta |
| nl | Gecombineerde immuundeficiëntie door deficiëntie van polymerase delta | CID door deficiëntie van polymerase delta |
| pt | Combined immunodeficiency due to polymerase delta deficiency | |
| pl | Combined immunodeficiency due to polymerase delta deficiency | = en |
| cs | Combined immunodeficiency due to polymerase delta deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:718053Combined immunodeficiency with low CD4 and normal CD8
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9175 | ENSG00000062822 | 174761 | 19q13.33 | DNA polymerase delta 1, catalytic subunit | 31449058[PMID]_31629014[PMID] |
| POLD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9176 | ENSG00000106628 | 600815 | 7p13 | DNA polymerase delta 2, accessory subunit | 31449058[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/718047
- This record as JSON: /data/d/718047.json