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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
4 associated genes
45 signs/symptoms
Desmoid tumor
Berardinelli-Seip congenital lipodystrophy

APC AGPAT2
CTNNB1 BSCL2
CAV1
FOS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.49)
CAV1



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Berardinelli-Seip congenital lipodystrophy
AGPAT2 BSCL2 CAV1 FOS



Desmoid tumor
Berardinelli-Seip congenital lipodystrophy

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
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:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references


COMMON
SIGNS
- Early death / lethality


Desmoid tumor
Berardinelli-Seip congenital lipodystrophy

Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


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
- 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