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Berardinelli-Seip congenital lipodystrophy

3 OMIM references -
4 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

X-linked agammaglobulinemia

2 OMIM references -
1 associated gene
33 signs/symptoms

Berardinelli-Seip congenital lipodystrophy

X-linked agammaglobulinemia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CAV1	(0.73)	BTK

Citations in the biomedical literature:

Berardinelli-Seip congenital lipodystrophy		X-linked agammaglobulinemia
	Synonym(s): - BSCL - Beradinelli-Seip syndrome - Brunzell syndrome - GCL - Generalized congenital lipodystrophy - Lipoatrophic diabetes		Synonym(s): - BTK-deficiency - Bruton type agammaglobulinemia

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: sporadic

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537409


COMMON SIGNS	- Early death / lethality - Immunodeficiency / increased susceptibility to infections / recurrent infections

Berardinelli-Seip congenital lipodystrophy		X-linked agammaglobulinemia
	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 - 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 - Acute diarrhea - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of the lymphatic system - Asthenia / fatigue / weakness - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Chronic / relapsing otitis - Cutaneous rash - Failure to thrive / difficulties for feeding in infancy / growth delay - Fever / chilling - Furuncle / cutaneous abscess / hidrosadenitis suppurativa - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Repeat respiratory infections - Short stature / dwarfism / nanism - Tonsil anomaly / hypertrophy / adenoiditis - X-linked recessive inheritance Frequent - Arthritis / synovitis / synovial proliferation - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Meningitis / meningeal syndrome - Polynuclear cells / neutrophils anomalies / neutropenia - Sepsis severe / septicemia Occasional - Alopecia - Anaemia - Autoimmunity / autoimmune reaction / autoantibodies - Hepatitis / icterus / cholestasis - Irregular / patchy skin hypopigmentation - Malabsorption / chronic diarrhea / steatorrhea - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Thrombocytopenia / thrombopenia - Weight loss / loss of appetite / break in weight curve / general health alteration