ODCs

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Bannayan-Riley-Ruvalcaba syndrome

1 OMIM reference -
1 associated gene
55 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

Bannayan-Riley-Ruvalcaba syndrome

Berardinelli-Seip congenital lipodystrophy

PTEN	(UniProt - OMIM)	AGPAT2	(UniProt - OMIM)
		BSCL2	(UniProt - OMIM)
		CAV1	(UniProt - OMIM)
		FOS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTEN	(0.78)	CAV1

Citations in the biomedical literature:

Bannayan-Riley-Ruvalcaba syndrome		Berardinelli-Seip congenital lipodystrophy
	Synonym(s): - BRRS - Myhre-Riley-Smith syndrome - Syndrome de Myhre-Rikey-Smith		Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Angor pectoris / myocardial infarction - Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability

Bannayan-Riley-Ruvalcaba syndrome		Berardinelli-Seip congenital lipodystrophy
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Breast neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Irregular / in bands / reticular skin hyperpigmentation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Polyposis of the bowel / colon / intestine - Short stature / dwarfism / nanism - Visceral angiomatosis (excluding skin) - Xanthomas / lipomas Frequent - Mucosal / cutaneous hemorrhage - Pectus excavatum - Scoliosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Anteverted nares / nostrils - Aortic dilatation / dilation - Broad nose / nasal bridge - Broad / bifid thumb - Cafe-au-lait spot - Cortical adrenal neoplasm / tumor / carcinoma / cancer - Cutis marmorata / marbled skin / livedo - Delayed bone age - Dolichocephaly / scaphocephaly - Frontal bossing / prominent forehead - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - High vaulted / narrow palate - Hypoglycemia - Hypotonia - Intracranial / cerebral / meningeal hemorrhage - Long philtrum - Long / large ear - Lymphedema - Lymphoma - Meningioma - Micrognathia / retrognathia / micrognathism / retrognathism - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Myopathy - Neoplasms / tumors - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration - Telangiectasiae of the skin - Thyroid neoplasm / tumor / carcinoma / cancer - Thyroiditis - Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy		Very frequent - Abnormal fat distribution / lipodystrophy - Acanthosis nigricans - Advanced bone age - Autosomal recessive inheritance - Broad foot - Diabetes mellitus - Foot anomalies - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperinsulinism / hyperinsulinemia - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Large hand - Lipoatrophy - Muscle hypertrophy - Prognathism / prognathia - Prominent supraorbital ridge - Storage liver disease - Thick skin / pachydermia / orange skin Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acromegaly - Bone cyst - Cardiomyopathy / hypertrophic / dilated - Hair and scalp anomalies - Hepatocellular liver disease / hepatic failure - Hirsutism / hypertrichosis / Increased body hair - Hyperhidrosis / increased sweating - Precocious puberty Occasional - Abnormal / polycystic ovaries - Anomalies of tongue, gingiva and oral mucosa - Arterial stenosis / occlusion - Cirrhosis - Dilated cerebral ventricles without hydrocephaly - Immunodeficiency / increased susceptibility to infections / recurrent infections - Liver / hepatic steatosis - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Mutiple fractures / bone fragility - Pancreatitis - Peripheral neuropathy - Pulmonary hypertension - Renal disease / nephropathy - Renal failure - Renal glomerular defect / glomerulopathy