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

Familial hyperthyroidism due to mutations in TSH receptor

Familial multiple nevi flammei


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSHR	(0.52)	GNAQ

Citations in the biomedical literature:

Familial hyperthyroidism due to mutations in TSH receptor		Familial multiple nevi flammei
	Synonym(s): - Familial non-immune hyperthyroidism - Resistance to thyroid stimulating hormone		Synonym(s): - Familial multiple port-wine stains

	Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		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
Familial hyperthyroidism due to mutations in TSH receptor
(no data available)