Familial hypofibrinogenemia

General Information (adopted from Orphanet):

Synonyms, Signs: HYPODYSFIBRINOGENEMIA, CONGENITAL, INCLUDED
DYSFIBRINOGENEMIA, CONGENITAL, INCLUDED
Number of Symptoms 12
OrphanetNr: 101041
OMIM Id: 202400
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital fibrinogen deficiency
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000225) Gingival bleeding Very frequent [Orphanet] 28 / 7739
2
 (HPO:0000421) Epistaxis Very frequent [Orphanet] 85 / 7739
3
 (HPO:0012223) Splenic rupture 6 / 7739
4
 (HPO:0002239) Gastrointestinal hemorrhage Very frequent [Orphanet] 97 / 7739
5
 (HPO:0011900) Hypofibrinogenemia 8 / 7739
6
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
7
 (OMIM) Blood completely incoagulable 5 / 7739
8
 (OMIM) Bleeding mild to severe 5 / 7739
9
 (OMIM) Hepatic hemorrhage 5 / 7739
10
 (OMIM) Afibrinogenemia 5 / 7739
11
 (OMIM) Osseous hemorrhage 5 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: