ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Hereditary combined deficiency of vitamin K-dependent clotting factors

HERNS syndrome

GGCX	(UniProt - OMIM)		TREX1	(UniProt - OMIM)
VKORC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VKORC1	(0.63)	TREX1

Citations in the biomedical literature:

Hereditary combined deficiency of vitamin K-dependent clotting factors		HERNS syndrome
	Synonym(s): - Hereditary combined deficiency of factors II, VII, IX and X		Synonym(s): - Hereditary endotheliopathy - retinopathy - nephropathy - stroke

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare renal disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the circulatory system -

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

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

HERNS syndrome
	Very frequent - Autosomal dominant inheritance Frequent - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Facial pain / cephalalgia / migraine - Hematuria / microhematuria - Hemiplegia / diplegia / hemiparesia / limb palsy - Proteinuria - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Renal disease / nephropathy - Retinal vascular anomalies / retinal telangiectasia - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke - Visual loss / blindness / amblyopia Occasional - Ataxia / incoordination / trouble of the equilibrium - Motor deficit / trouble - Sensitive trouble / deficit
Hereditary combined deficiency of vitamin K-dependent clotting factors
(no data available)