Immunodeficiency with factor H anomaly
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i> Neisseria meningitidis</i>, <i>Escherichia coli</i>, and <i>Haemophilus influenzae</i>), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency with factor H anomaly | |
| fr | Déficit immunitaire associé à une anomalie du facteur H | Immunodéficience associée à une anomalie du facteur H |
| de | Immundefekt mit Faktor H-Anomalie | |
| es | Inmunodeficiencia por deficiencia del factor H | |
| it | Immunodeficienza con anomalia del fattore H | |
| nl | Immuundeficiëntie met factor H-anomalie | |
| pt | Imunodeficiência com anomalia do fator H | |
| pl | Niedobór odporności z anomalią czynnika H | |
| cs | Imunodeficience s anomálií faktoru H | |
| uk | Імунодефіцит з аномалією фактора Н | |
| zh | 免疫缺陷伴H因子异常 | |
| tr | Faktör H anomalisi ile seyreden immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609814 | NTBT | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0016061 | E | validated | |
| MeSH | C562875 | E | validated | |
| UMLS | C0398777 | 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:459348Immunodeficiency due to a complement regulatory deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFH | Disease-causing germline mutation(s) in | Assessed | HGNC:4883 | ENSG00000000971 | 134370 | 1q31.3 | complement factor H |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/200421
- This record as JSON: /data/d/200421.json