Immunodeficiency due to ficolin3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency due to ficolin3 deficiency | |
| fr | Déficit immunitaire par déficit en ficoline 3 | Immunodéficience par déficit en ficoline 3 |
| de | Immundefekt durch Ficolin-3-Mangel | |
| es | Inmunodeficiencia por deficiencia de ficolina3 | |
| it | Immunodeficienza da deficit di ficolina-3 | |
| nl | Immuundeficiëntie door ficolin3-deficiëntie | |
| pt | Imunodeficiência por défice de ficolin3 | |
| pl | Niedobór odporności z powodu deficytu fikoliny3 | |
| cs | Imunodeficience způsobená ficolin3 deficitem | |
| uk | Імунодефіцит, зумовлений дефіцитом фіколіну3 | |
| zh | ficolin3基因缺乏所致免疫缺陷 | |
| tr | Ficolin3 eksikliğine bağlı immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613860 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0013467 | E | validated | |
| UMLS | C4707940 | 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:459345Immunodeficiency due to a complement cascade component deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FCN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3625 | ENSG00000142748 | 604973 | 1p36.11 | ficolin 3 | 19535802[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 19535802[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19535802[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/331190
- This record as JSON: /data/d/331190.json