ORPHA:169464
Primary CD59 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary CD59 deficiency | |
| fr | Déficit primaire en CD59 | |
| de | CD59-Mangel, primärer | |
| es | Deficiencia primaria de CD59 | |
| it | Deficit primario di CD59 | |
| nl | Primaire CD59-deficiëntie | |
| pt | Deficiência de CD59 primária | |
| pl | Pierwotny niedobór CD59 | |
| cs | Primární deficit CD59 | |
| uk | Первинний дефіцит CD59 | |
| zh | 原发性CD59因子缺乏 | |
| tr | Primer CD59 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612300 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0012858 | E | validated | |
| UMLS | C4755276 | 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 (3):
- ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:459348Immunodeficiency due to a complement regulatory deficiency
rare genetic diseases; rare immunological diseases - ORPHA:98364Rare constitutional hemolytic anemia due to a red cell membrane anomaly
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD59 | Disease-causing germline mutation(s) in | Assessed | HGNC:1689 | ENSG00000085063 | 107271 | 11p13 | CD59 molecule (CD59 blood group) | 23149847[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23149847[PMID]_16631367[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
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/169464
- This record as JSON: /data/d/169464.json