ODCs

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3 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
23 signs/symptoms

Combined deficiency of factor V and factor VIII

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

LMAN1	(UniProt - OMIM)		IGBP1	(UniProt - OMIM)
MCFD2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MCFD2	(0.49)	IGBP1

Citations in the biomedical literature:

Combined deficiency of factor V and factor VIII		Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
	Synonym(s): - F5F8D - FV and FVIII combined deficiency - Familial multiple coagulation factor deficiency		Synonym(s): - Graham-Cox syndrome

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
	Very frequent - Anomalies of ear and hearing - Conductive deafness / hearing loss - Corpus callosum / septum pellucidum total / partial agenesis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - Pectus excavatum - Scoliosis - Sensorineural deafness / hearing loss - Short neck - Short stature / dwarfism / nanism - X-linked recessive inheritance Frequent - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of iris - High nasal bridge - High vaulted / narrow palate - Patent ductus arteriosus - Ventricular septal defect / interventricular communication
Combined deficiency of factor V and factor VIII
(no data available)