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Monosomy 9q22.3

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

Monosomy 9q22.3

Berardinelli-Seip congenital lipodystrophy

PTCH1	(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)	PTCH1	(0.63)	CAV1

Citations in the biomedical literature:

Monosomy 9q22.3		Berardinelli-Seip congenital lipodystrophy
	Synonym(s): - Microdeletion 9q22.3		Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		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: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Advanced bone age - Dilated cerebral ventricles without hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability

Monosomy 9q22.3		Berardinelli-Seip congenital lipodystrophy
	Very frequent - Epicanthic folds - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hyperactivity / attention deficit - Hypotonia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Pectus excavatum - Short neck - Strabismus / squint - Tall stature / gigantism / growth acceleration - Trigonocephaly - Umbilical hernia Frequent - Bifid / cleft ear lobe / ear lobe pits - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Kyphosis - Seizures / epilepsy / absences / spasms / status epilepticus - Thick / wide ear lobe		Very frequent - Abnormal fat distribution / lipodystrophy - Acanthosis nigricans - 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 - Angor pectoris / myocardial infarction - Anomalies of tongue, gingiva and oral mucosa - Arterial stenosis / occlusion - Cirrhosis - 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