ODCs

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Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Johanson-Blizzard syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

Berardinelli-Seip congenital lipodystrophy

Johanson-Blizzard syndrome

AGPAT2	(UniProt - OMIM)	UBR1	(UniProt - OMIM)
BSCL2	(UniProt - OMIM)
CAV1	(UniProt - OMIM)
FOS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FOS	(0.68)	UBR1

Citations in the biomedical literature:

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

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

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535880


COMMON SIGNS	- Autosomal recessive inheritance - Diabetes mellitus - Intellectual deficit / mental / psychomotor retardation / learning disability

Berardinelli-Seip congenital lipodystrophy		Johanson-Blizzard syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Acanthosis nigricans - Advanced bone age - Broad foot - 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 - 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 - Peripheral neuropathy - Pulmonary hypertension - Renal disease / nephropathy - Renal failure - Renal glomerular defect / glomerulopathy		Very frequent - Abnormal implantation of hair - Alopecia - Anomalies of teeth and dentition - Failure to thrive / difficulties for feeding in infancy / growth delay - Intrauterine growth retardation - Malabsorption / chronic diarrhea / steatorrhea - Pancreatic failure / exocrine pancreas disease - Short stature / dwarfism / nanism - Short / small nose - Structural anomalies of the pancreas - Thin / hypoplastic ala nasi Frequent - Anaemia - Anodontia / oligodontia / hypodontia - Complete / partial microdontia - Defect / anomaly of lacrimal system - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hypoproteinemia - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Sensorineural deafness / hearing loss - Uterine / uterus / Fallopian tubes anomalies Occasional - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Cutaneous edema - Death in infancy - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Hypospadias / epispadias / bent penis - Hypotonia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Micropenis / small penis / agenesis - Small / triangular nares / nostrils