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Combined deficiency of factor V and factor VIII
3 OMIM references -
2 associated genes
37 connected diseases
No signs/symptoms info
Disease Type of connection
Cataract - intellectual deficit - hypogonadism
Micro syndrome
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
CADDS
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Behavioral variant of frontotemporal dementia
Boomerang dysplasia
Chuvash erythrocytosis
Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Distal myopathy with posterior leg and anterior hand involvement
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Muscle filaminopathy
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spondylocarpotarsal synostosis
Von Hippel-Lindau disease
Chorioretinopathy, Birdshot type
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Synonym(s):
- F5F8D
- FV and FVIII combined deficiency
- Familial multiple coagulation factor deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
LMAN1 P49257601567
MCFD2 Q8NI22607788
No signs/symptoms info available.