ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
22 signs/symptoms

Hereditary combined deficiency of vitamin K-dependent clotting factors

Keratosis follicularis spinulosa decalvans

GGCX	(UniProt - OMIM)		MBTPS2	(UniProt - OMIM)
VKORC1	(UniProt - OMIM)		SAT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	VKORC1	(0.63)	SAT1

Citations in the biomedical literature:

Hereditary combined deficiency of vitamin K-dependent clotting factors		Keratosis follicularis spinulosa decalvans
	Synonym(s): - Hereditary combined deficiency of factors II, VII, IX and X		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin 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 / 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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C536159

Keratosis follicularis spinulosa decalvans
	Very frequent - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Ichthyosis / ichthyosiform dermatitis - Thick skin / pachydermia / orange skin - X-linked recessive inheritance Frequent - Abnormal fingernails - Anomalies of eyelids, eyelashes and lacrimal system - Blepharitis / eyelid inflammation - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Corneal clouding / opacity / vascularisation - Ectropion / entropion / eyelid eversion - Myopia - Retinal detachment Occasional - Dental staining anomaly / spotted teeth / erythrodontia - Eczema - Enamel anomaly - Multiple caries
Hereditary combined deficiency of vitamin K-dependent clotting factors
(no data available)