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Berardinelli-Seip congenital lipodystrophy
3 OMIM references -
4 associated genes
255 connected diseases
45 signs/symptoms
Disease Type of connection
Heritable pulmonary arterial hypertension
Autosomal dominant spastic paraplegia type 17
Diffuse cutaneous systemic sclerosis
Distal hereditary motor neuropathy type 5
Limited cutaneous systemic sclerosis
Severe neurodegenerative syndrome with lipodystrophy
Precursor B-cell acute lymphoblastic leukemia
Idiopathic hypereosinophilic syndrome
Amyotrophic lateral sclerosis
Noonan syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Familial thoracic aortic aneurysm and aortic dissection
Distal 22q11.2 microdeletion syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Estrogen resistance syndrome
Juvenile myelomonocytic leukemia
Juvenile polyposis of infancy
Pulverulent cataract
Chronic myeloid leukemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Papillary or follicular thyroid carcinoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial atrial fibrillation
Generalized juvenile polyposis / juvenile polyposis coli
Precursor T-cell acute lymphoblastic leukemia
Leukoencephalopathy - dystonia - motor neuropathy
Giant cell glioblastoma
Myxoid / round cell liposarcoma
Spinocerebellar ataxia type 17
Cleidocranial dysplasia
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Partial androgen insensitivity syndrome
Aneurysm - osteoarthritis syndrome
Craniometaphyseal dysplasia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Gastrointestinal stromal tumor
Hypoplastic left heart syndrome
Isolated delta-storage pool disease
LEOPARD syndrome
Myeloid neoplasm associated with PDGFRA rearrangement
Oculodentodigital dysplasia
Syndactyly type 3
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Cataract-microcornea syndrome
Cerulean cataract
X-linked dystonia-parkinsonism
Acute promyelocytic leukemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Hypotrichosis-deafness syndrome
KID syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Waardenburg syndrome type 2
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Hirschsprung disease
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Waardenburg-Shah syndrome
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Anaplastic ependymoma
Autosomal recessive limb-girdle muscular dystrophy type 2P
Congenital stationary night blindness
Hypocalcemic vitamin D-resistant rickets
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Oguchi disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hyperinsulinism due to HNF1A deficiency
MODY syndrome
Autoimmune lymphoproliferative syndrome
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Rabson-Mendenhall syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Johanson-Blizzard syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Acute myeloid leukemia with CEBPA somatic mutations
Familial prostate cancer
Inherited acute myeloid leukemia
Multicentric carpo-tarsal osteolysis with or without nephropathy
Recurrent infection due to specific granule deficiency
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
22q11.2 deletion syndrome
Action myoclonus - renal failure syndrome
Alobar holoprosencephaly
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Familial Alzheimer-like prion disease
Fatal familial insomnia
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Gaucher disease type 1
Generalized epilepsy - paroxysmal dyskinesia
Gerstmann-Straussler-Scheinker syndrome
Gorlin syndrome
Guanidinoacetate methyltransferase deficiency
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Huntington disease-like 1
Idiopathic pulmonary arterial hypertension
Inherited Creutzfeldt-Jakob disease
Lobar holoprosencephaly
Megalencephalic leukoencephalopathy with subcortical cysts
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Monosomy 9q22.3
Mucopolysaccharidosis type 4B
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Pediatric systemic lupus erythematosus
Primary hyperoxaluria type 2
Pulmonary venoocclusive disease
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Syndromic multisystem autoimmune disease due to Itch deficiency
Unverricht-Lundborg disease
Watson syndrome
Familial capillary hemangioma
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Coppock-like cataract
Nuclear cataract
Posterior polar cataract
Primary CD59 deficiency
Tuberous sclerosis
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Atrial septal defect, ostium secundum type
Autosomal dominant hypohidrotic ectodermal dysplasia
Chronic intestinal pseudoobstruction
Chronic mucocutaneous candidiasis
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Familial pancreatic carcinoma
Frontometaphyseal dysplasia
Hereditary gingival fibromatosis
Hereditary hemorrhagic telangiectasia
Hyper-IgM syndrome type 3
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Myhre syndrome
Nodulosis-arthropathy-osteolysis syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Partial atrioventricular canal
Periventricular nodular heterotopia
Single ventricular septal defect
Susceptibility to viral and mycobacterial infections
Terminal osseous dysplasia - pigmentary defects
Tetralogy of Fallot
Torg-Winchester syndrome
2p21 microdeletion syndrome
Autosomal dominant nonsyndromic intellectual deficit
Blackfan-Diamond anemia
Charcot-Marie-Tooth disease type 4B2
Chronic granulomatous disease
Congenital fibrosis of extraocular muscles
Desmoid tumor
Distal myopathy with vocal cord weakness
Generalized congenital lipodystrophy with myopathy
Hepatocellular carcinoma, childhood-onset
Intermittent hydrarthrosis
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, severe form
Polymicrogyria due to TUBB2B mutation
TRAPS syndrome
WHIM syndrome
Williams syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- Beradinelli-Seip syndrome
- Brunzell syndrome
- Generalized congenital lipodystrophy
- Lipoatrophic diabetes

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

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

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:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
AGPAT2 O15120603100
BSCL2 Q96G97606158
CAV1 Q03135601047
FOS P01100164810
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

- 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

- 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