FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY V
FMFD V
MULTIPLE COAGULATION FACTOR DEFICIENCY V
MCFD5
Number of Symptoms 17
OrphanetNr:
OMIM Id: 134520
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001373) Joint dislocation 59 / 7739
2
 (HPO:0012095) Multiple joint dislocation 24 / 7739
3
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
4
 (HPO:0003179) Protrusio acetabuli 37 / 7739
5
 (HPO:0003994) Dislocated wrist 24 / 7739
6
 (HPO:0005261) Joint hemorrhage 17 / 7739
7
 (HPO:0003042) Elbow dislocation 89 / 7739
8
 (HPO:0002999) Patellar dislocation 46 / 7739
9
 (HPO:0002827) Hip dislocation 94 / 7739
10
 (HPO:0003834) Shoulder dislocation 28 / 7739
11
 (HPO:0000978) Bruising susceptibility 123 / 7739
12
 (HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
13
 (OMIM) Combined coagulation factor VIII, IX and XI deficiency 1 / 7739
14
 (OMIM) Excessive hemorrhage 1 / 7739
15
 (MedDRA:10018852) Haematoma 6 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Abnormal hemostasis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: