ORPHA:397964
Combined immunodeficiency due to MALT1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to MALT1 deficiency | |
| fr | Déficit immunitaire combiné par déficit en MALT1 | Immunodéficience combinée par déficit en MALT1 |
| de | Immundefekt, kombinierter, durch MALT1-Mangel | |
| es | Inmunodeficiencia combinada por deficiencia de MALT1 | |
| it | Immunodeficienza combinata da deficit di MALT1 | |
| nl | Gecombineerde immuundeficiëntie door MALT1-deficiëntie | |
| pt | Imunodeficiência combinada por défice de MALT1 | |
| pl | Złożony niedobór odporności z powodu deficytu MALT1 | |
| cs | Kombinovaná imunodeficience způsobená deficitem MALT1 | |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом MALT1 | |
| zh | 黏膜关联淋巴组织淋巴瘤易位基因1缺陷导致的联合免疫缺陷 | |
| tr | MALT1 eksikliğine bağlı kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615468 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 0014197 | E | validated | |
| UMLS | C4750906 | 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 (2):
- ORPHA:688563Combined immunodeficiency with normal Ig and poor specific antibody response
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MALT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6819 | ENSG00000172175 | 604860 | 18q21.32 | MALT1 paracaspase | 23727036[PMID]_24332264[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23727036[PMID]_24332264[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23727036[PMID]_24332264[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397964
- This record as JSON: /data/d/397964.json