ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
25 signs/symptoms

Bleeding diathesis due to thromboxane synthesis deficiency

Familial multiple nevi flammei


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TBXA2R	(0.9)	GNAQ

Citations in the biomedical literature:

Bleeding diathesis due to thromboxane synthesis deficiency		Familial multiple nevi flammei
	Synonym(s): (no synonyms)		Synonym(s): - Familial multiple port-wine stains

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - 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: (no data available)

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

Familial multiple nevi flammei
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Irregular / in bands / reticular skin hyperpigmentation - Macules Frequent - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium Occasional - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Cardiac rhythm disorder / arrhythmia - Chronic skin infection / ulcerations / ulcers / cancrum - Cranial nerve anomalies - Cutaneous edema - Glaucoma - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications - Intracranial / cerebral / meningeal hemorrhage - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lower limb segmental anomalies - Pulmonary thromboembolism - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Upper limb segmental anomalies - Varices / varicous veins / venous insufficiency - Venous thrombosis / phlebitis / thrombophlebitis
Bleeding diathesis due to thromboxane synthesis deficiency
(no data available)