Familial afibrinogenemia

General Information (adopted from Orphanet):

Synonyms, Signs: HYPODYSFIBRINOGENEMIA, CONGENITAL, INCLUDED
DYSFIBRINOGENEMIA, CONGENITAL, INCLUDED
Number of Symptoms 12
OrphanetNr: 98880
OMIM Id: 202400
ICD-10: D68.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000858) Menstrual irregularities Very frequent [Orphanet] 42 / 7739
2
 (HPO:0000421) Epistaxis Very frequent [Orphanet] 85 / 7739
3
 (HPO:0000225) Gingival bleeding Very frequent [Orphanet] 28 / 7739
4
 (HPO:0005268) Spontaneous abortion Very frequent [Orphanet] 15 / 7739
5
 (HPO:0012223) Splenic rupture 6 / 7739
6
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
7
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
8
 (OMIM) Afibrinogenemia 5 / 7739
9
 (OMIM) Blood completely incoagulable 5 / 7739
10
 (OMIM) Osseous hemorrhage 5 / 7739
11
 (OMIM) Hepatic hemorrhage 5 / 7739
12
 (OMIM) Bleeding mild to severe 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: