ORPHA:101041
Familial hypofibrinogenemia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
This disease is described under Congenital fibrinogen deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hypofibrinogenemia | |
| fr | Hypofibrinogénémie familiale | |
| de | Hypofibrinogenämie, familiäre | |
| es | Hipofibrinogenemia familiar | |
| it | Ipofibrinogenemia familiare | |
| nl | Familiale hypofibrinogenemie | |
| pt | Hipofibrinogenemia familiar | |
| pl | Hipofirynogenemia rodzinna | |
| cs | Familiární hypofibrinogenémie | |
| uk | Сімейна гіпофібриногенемія | |
| zh | 家族性低纤维蛋白原血症 | |
| tr | Ailesel hipofibrinojenemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202400 | NTBT | validated | |
| ICD-10 | D68.2 | NTBT | attributed | validated |
| ICD-11 | 3B14.0 | NTBT | index | validated |
| MONDO | 0015096 | E | validated | |
| UMLS | C5681803 | E | validated | |
| GARD | 2887 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:335Congenital fibrinogen deficiency
rare genetic diseases; rare hematological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGA | Disease-causing germline mutation(s) in | Assessed | HGNC:3661 | ENSG00000171560 | 134820 | 4q31.3 | fibrinogen alpha chain | 18676163[PMID]_17295221[PMID] |
| FGB | Disease-causing germline mutation(s) in | Assessed | HGNC:3662 | ENSG00000171564 | 134830 | 4q31.3 | fibrinogen beta chain | 17295221[PMID] |
| FGG | Disease-causing germline mutation(s) in | Assessed | HGNC:3694 | ENSG00000171557 | 134850 | 4q32.1 | fibrinogen gamma chain | 18676163[PMID]_17295221[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000421 | Epistaxis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000225 | Gingival bleeding | |
Run the differential on the 4 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101041
- This record as JSON: /data/d/101041.json