ODCs

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Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

Rabson-Mendenhall syndrome

Berardinelli-Seip congenital lipodystrophy

INSR	(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)	INSR	(0.73)	CAV1

Citations in the biomedical literature:

Rabson-Mendenhall syndrome		Berardinelli-Seip congenital lipodystrophy
	Synonym(s): (no synonyms)		Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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 - 1 MeSH reference: D056731		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Abnormal / polycystic ovaries - Acanthosis nigricans - Acromegaly - Diabetes mellitus - Hirsutism / hypertrichosis / Increased body hair - Peripheral neuropathy - Precocious puberty - Prognathism / prognathia - Thick skin / pachydermia / orange skin

Rabson-Mendenhall syndrome		Berardinelli-Seip congenital lipodystrophy
	Very frequent - Anomalies of teeth and dentition - Anomalies of the abdominal wall - Autosomal dominant inheritance - Coarse face - Dysplastic / thick / grooved fingernails - Female pseudohermaphrodism / virilisation / clitoridomegaly - Intrauterine growth retardation - Lanugo - Macropenis / megapenis / large penis - Premature eruption of teeth / natal teeth Frequent - Coarse / thick hair - Dry / squaly skin / exfoliation - Premature ageing - Proteinuria - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thyroid anomalies Occasional - Megaureter / hydronephrosis / pyeloureteral junction syndrome		Very frequent - Abnormal fat distribution / lipodystrophy - Advanced bone age - Autosomal recessive inheritance - Broad foot - Foot anomalies - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperinsulinism / hyperinsulinemia - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Large hand - Lipoatrophy - Muscle hypertrophy - Prominent supraorbital ridge - Storage liver disease Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Bone cyst - Cardiomyopathy / hypertrophic / dilated - Hair and scalp anomalies - Hepatocellular liver disease / hepatic failure - Hyperhidrosis / increased sweating - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Angor pectoris / myocardial infarction - Anomalies of tongue, gingiva and oral mucosa - Arterial stenosis / occlusion - Cirrhosis - Dilated cerebral ventricles without hydrocephaly - Early death / lethality - Immunodeficiency / increased susceptibility to infections / recurrent infections - Liver / hepatic steatosis - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Mutiple fractures / bone fragility - Pancreatitis - Pulmonary hypertension - Renal disease / nephropathy - Renal failure - Renal glomerular defect / glomerulopathy