Combined immunodeficiency due to GINS1 deficiency
Synonyms: CID due to GINS1 deficiency · Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia · Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to GINS1 deficiency | CID due to GINS1 deficiency · Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia · Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia |
| fr | Déficit immunitaire combiné par déficit en GINS1 | CID par déficit en GINS1 · DIC par déficit en GINS1 · Déficit immunitaire combiné avec retard de croissance intra-utérin-déficit en cellules NK-neutropénie · Immunodéficience combinée par déficit en GINS1 |
| de | Immundefekt, kombinierter, durch GINS1-Mangel | CID durch GINS1-Defizienz · CID durch GINS1-Mangel · Kombinierter Immundefekt mit intrauteriner Wachstumsverzögerung, NK-Zellen-Mangel und Neutropenie · Kombinierter Immundefekt mit intrauteriner Wachstumsverzögerung, Natürliche Killer-Zellen-Mangel und Neutropenie |
| es | Inmunodeficiencia combinada grave por deficiencia de GINS1 | IDC por deficiencia de GINS1 · Inmunodeficiencia combinada con retraso del crecimiento intrauterino-deficiencia de células NK-neutropenia · Inmunodeficiencia combinada con retraso del crecimiento intrauterino-deficiencia de células natural killer-neutropenia |
| it | Immunodeficienza combinata da deficit di GINS1 | |
| nl | Gecombineerde immuundeficiëntie door GINS1-deficiëntie | CID door GINS1-deficiëntie · Gecombineerde immuundeficiëntie met intra-uteriene groeiretardatie - NK-celdeficiëntie - neutropenie · Gecombineerde immuundeficiëntie met intra-uteriene groeiretardatie - deficiëntie van natuurlijke killercellen - neutropenie |
| pt | Imunodeficiência combinada por deficiência de GINS1 | |
| pl | Złożony niedobór odporności z powodu niedoboru GINS1 | = en |
| cs | Kombinovaná imunodeficience způsobená deficitem GINS1 | CID způsobená deficitem GINS1 · Kombinovaná imunodeficience zahrnující nitroděložní růstovou retardaci, deficit NK buněk a neutropenii |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом GINS1 | КІД через дефіцит GINS1 · Комбінований імунодефіцит із затримкою внутрішньоутробного розвитку - дефіцитом природних кілерів - нейтропенією · Комбінований імунодефіцит із затримкою внутрішньоутробного розвитку - дефіцитом НК-клітин - нейтропенією |
| zh | GINS1缺乏导致联合免疫缺陷症 | 宫内生长迟缓合并免疫缺陷-NK细胞缺乏-中性粒细胞减少症 |
| tr | GINS1 eksikliğine bağlı kombine immün yetmezlik | Rahim içi büyüme geriliği ile seyreden kombine immün yetmezlik-doğal öldürücü hücre eksikliği-nötropeni · GINS1 eksikliğine bağlı CID · İntrauterin büyüme geriliği ile seyreden kombine immün yetmezlik-NK hücre eksikliği-nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617827 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0044725 | E | validated | |
| UMLS | C5568132 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GINS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28980 | ENSG00000101003 | 610608 | 20p11.21 | GINS complex subunit 1 | 28414293[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28414293[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28414293[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/505227
- This record as JSON: /data/d/505227.json