Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent
- Status
- active
A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | |
| fr | Hémorragie due à la mutation Pittsburgh de l'alpha-1-antitrypsine | |
| de | Hämorrhagische Krankheit durch Alpha-1-Antitrypsin Pittsburgh-Mutation | |
| es | Enfermedad hemorrágica por una mutación Pittsburgh en alfa 1-antitripsina | |
| it | Malattia emorragica da mutazione di alfa-1 antitripsina Pittsburgh | |
| nl | Hemorragische ziekte door Pittsburgh-mutatie in alfa-1-antitrypsine | |
| pt | Doença hemorrágica por mutação de Pittsburg na alfa-1 antitripsina | |
| pl | Choroba krwotoczna z powodu mutacji Pittsburgh alfa-1-antytrypsyny | |
| cs | Krvácivá porucha způsobená Pittsburgskou mutací alfa-1-antitrypsinu | |
| uk | Геморагічна хвороба, спричинена мутацією альфа-1-антитрипсину Піттсбурга | |
| zh | α1-抗胰蛋白酶匹茨堡突变所致出血性疾病 | |
| tr | Alfa-1-antitripsin Pittsburgh mutasyonuna bağlı hemorajik hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613490 | NTBT | validated | |
| ICD-10 | D68.8 | NTBT | attributed | validated |
| ICD-11 | 5C5A | NTBT | index | validated |
| MONDO | 0015801 | E | validated | |
| UMLS | C5190706 | 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:68334Rare hemorrhagic disorder due to a constitutional coagulation factors defect
rare genetic diseases; rare hematological diseases - ORPHA:250808Serpinopathy with toxic serpin polymerization
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8941 | ENSG00000197249 | 107400 | 14q32.13 | serpin family A member 1 | 19483159[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19483159[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19483159[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/178396
- This record as JSON: /data/d/178396.json