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Quebec platelet disorder

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Ichthyosis-hypotrichosis syndrome

1 OMIM reference -
1 associated gene
3 signs/symptoms

Quebec platelet disorder

Ichthyosis-hypotrichosis syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLAU	(0.52)	ST14

Citations in the biomedical literature:

Quebec platelet disorder		Ichthyosis-hypotrichosis syndrome
	Synonym(s): - Factor V Quebec		Synonym(s): - Hypotrichosis - congenital ichthyosis

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - 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: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536260		External references: 1 OMIM reference - No MeSH references

Ichthyosis-hypotrichosis syndrome
	Very frequent - Autosomal recessive inheritance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Ichthyosis / ichthyosiform dermatitis
Quebec platelet disorder
(no data available)