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Partial acquired lipodystrophy
1 OMIM reference -
1 associated gene
36 connected diseases
19 signs/symptoms
Disease Type of connection
17q11 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Familial isolated dilated cardiomyopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Nestor-Guillermo progeria syndrome
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Young adult-onset Parkinsonism
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
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 isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
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
Synonym(s):
- Barraquer-Simons syndrome
- Progressive cephalothoracic lipodystrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LMNB2 Q03252150341
Very frequent
- Abnormal fat distribution / lipodystrophy
- Lipoatrophy

Frequent
- Anomalies of complement
- Autoimmunity / autoimmune reaction / autoantibodies
- Hearing loss / hypoacusia / deafness
- Hematuria / microhematuria
- Hyperlymphocytosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopathy
- Premature ageing
- Proteinuria
- Renal glomerular defect / glomerulopathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anomalies of skin, subcutaneous tissue and mucosae
- Articular / joint pain / arthralgia
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Insulin resistance
- Liver / hepatic steatosis