ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Hereditary combined deficiency of vitamin K-dependent clotting factors

X-linked Charcot-Marie-Tooth disease type 1

GGCX	(UniProt - OMIM)		GJB1	(UniProt - OMIM)
VKORC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VKORC1	(0.63)	GJB1

Citations in the biomedical literature:

Hereditary combined deficiency of vitamin K-dependent clotting factors		X-linked Charcot-Marie-Tooth disease type 1
	Synonym(s): - Hereditary combined deficiency of factors II, VII, IX and X		Synonym(s): - CMT1X - CMTX1

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the nervous 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: - Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535919

X-linked Charcot-Marie-Tooth disease type 1
	Very frequent - Areflexia / hyporeflexia - Flat palm - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit - X-linked dominant inheritance Frequent - Insensitivity to pain - Motor deficit / trouble Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Hearing loss / hypoacusia / deafness - Hemiplegia / diplegia / hemiparesia / limb palsy - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor
Hereditary combined deficiency of vitamin K-dependent clotting factors
(no data available)