Cytoscape Web
Click node...


3 OMIM references -
4 associated genes
45 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Berardinelli-Seip congenital lipodystrophy
Multicentric carpo-tarsal osteolysis with or without nephropathy

AGPAT2 MAFB
BSCL2
CAV1
FOS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FOS
(0.65)
MAFB



Citations in the biomedical literature:


Berardinelli-Seip congenital lipodystrophy
AGPAT2 BSCL2 CAV1 FOS
Multicentric carpo-tarsal osteolysis with or without nephropathy
MAFB



Berardinelli-Seip congenital lipodystrophy
Multicentric carpo-tarsal osteolysis with or without nephropathy

Synonym(s):
- BSCL
- Beradinelli-Seip syndrome
- Brunzell syndrome
- GCL
- Generalized congenital lipodystrophy
- Lipoatrophic diabetes

Synonym(s):
- Idiopathic multicentric osteolysis with or without nephropathy

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Renal disease / nephropathy


Berardinelli-Seip congenital lipodystrophy
Multicentric carpo-tarsal osteolysis with or without nephropathy

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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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 failure
- Renal glomerular defect / glomerulopathy


Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Osteolysis / osteoclasia / bone destruction / erosions
- Proptosis / exophthalmos
- Proteinuria
- Restricted joint mobility / joint stiffness / ankylosis
- Triangular face
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wrist / carpal anomalies

Frequent
- Camptodactyly of fingers

Occasional
- Broad nasal root
- Downturned mouth
- Epiphyseal anomaly
- Polyhydramnios
- Telecanthus / canthal dystopy