ORPHA:228423
GATA2 deficiency spectrum
Synonyms: GATA binding protein 2 deficiency spectrum
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GATA2 deficiency spectrum | GATA binding protein 2 deficiency spectrum |
| fr | Spectre de déficit en GATA2 | Spectre de déficit en protéine GATA binding protein 2 |
| de | GATA2-Defizienz-Spektrum | |
| es | Espectro de deficiencia de GATA2 | Espectro de deficiencia de la proteína de unión a GATA 2 |
| it | Spettro del deficit di GATA2 | Spettro del deficit della proteina 2 legante GATA |
| nl | GATA2-deficiëntie-spectrum | GATA-bindingsproteïne 2-deficiëntie-spectrum |
| pt | Espectro clínico de deficiência de GATA2 | Espectro clínico de deficiência da proteína GATA 2 de ligação |
| pl | Spektrum niedoboru GATA2 | MonoMAC · Niedobór komórek dendrytycznych, monocytów, limfocytów B i NK · Niedobór monocytów - B - naturalnych zabójców - komórek dendrytycznych · Zespół monocytopenia i zakażenia mykobakteryjne · Złożony Niedobór odporności z podatnością na zakażenia mykobakteryjne, wirusowe i grzybicze |
| cs | Monocytopenie s náchylností k infekcím | MonoMAC · Syndrom monocytopenie a mykobakteriální infekce · Kombinovaná imunodeficience s náchylností k mykobakteriálním, virovým a plísňovým infekcím · Deficit dendritických buněk, monocytů, B lymfocytů a NK buněk · Syndrom zahrnující deficit monocytů, B lymfocytů, NK buněk a dendritických buněk |
| uk | Спектр дефіциту GATA2 | Спектр дефіциту GATA-звязуючого білка 2 |
| zh | 单核细胞减少症伴传染易感 | 免疫缺陷伴分枝杆菌、病毒、真菌感染易感性 |
| tr | Enfeksiyonlara duyarlılık ile seyreden monositopeni | MonoMAC · Monositopeni ve mikobakteriyel enfeksiyon sendromu · Dendritik hücre, monosit, B ve NK lenfoid eksikliği · Monosit-B-doğal öldürücü-dendritik hücre eksikliği sendromu · Mikobakteriyel, viral ve fungal enfeksiyonlara duyarlılık ile seyreden kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614172 | E | validated | |
| ICD-10 | D72.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0013607 | E | validated | |
| UMLS | C5925006 | E | validated | |
| GARD | 10934 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:674896Non-syndromic congenital phagocyte functional defect
rare genetic diseases; rare immunological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3226Deafness-lymphedema-leukemia syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4171 | ENSG00000179348 | 137295 | 3q21.3 | GATA binding protein 2 | 21765025[PMID]_21670465[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 20040766[PMID]_21242295[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2017-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011991 | Abnormal neutrophil count | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002488 | Acute leukemia | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0012378 | Fatigue | |
| HP:0001004 | Lymphedema | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0002878 | Respiratory failure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000389 | Chronic otitis media | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0100724 | Hypercoagulability | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002076 | Migraine | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000980 | Pallor | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001744 | Splenomegaly | |
| HP:0002321 | Vertigo | |
| HP:0000572 | Visual loss | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001974 | Increased total leukocyte count | |
| HP:0002716 | Lymphadenopathy | |
| HP:0005547 | Myeloproliferative disorder | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228423
- This record as JSON: /data/d/228423.json