Immunodeficiency due to MASP-2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency due to MASP-2 deficiency | |
| fr | Déficit immunitaire par déficit en MASP-2 | Immunodéficience par déficit en MASP-2 |
| de | Immundefekt durch MASP-2-Mangel | |
| es | Inmunodeficiencia por deficiencia de MASP-2 | |
| it | Immunodeficieza da deficit di MASP-2 | |
| nl | Immuundeficiëntie door MASP-2-deficiëntie | |
| pt | Imunodeficiência por défice de MASP-2 | |
| pl | Niedobór odporności z powodu deficytu MASP-2 | |
| cs | Imunodeficience způsobená deficitem MASP-2 | |
| uk | Імунодефіцит, зумовлений дефіцитом MASP-2 | |
| zh | MASP-2基因缺乏所致免疫缺陷 | |
| tr | MASP-2 eksikliğine bağlı immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613791 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0013423 | E | validated | |
| UMLS | C4749651 | 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 (2):
- ORPHA:459345Immunodeficiency due to a complement cascade component deficiency
rare genetic diseases; rare immunological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MASP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6902 | ENSG00000009724 | 605102 | 1p36.22 | MBL associated serine protease 2 | 12904520[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 12904520[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12904520[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/331187
- This record as JSON: /data/d/331187.json