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Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Partial acquired lipodystrophy

1 OMIM reference -
1 associated gene
19 signs/symptoms

Familial partial lipodystrophy, Dunnigan type

Partial acquired lipodystrophy

LMNA

(UniProt - OMIM)

LMNB2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	LMNB2

Citations in the biomedical literature:

Familial partial lipodystrophy, Dunnigan type		Partial acquired lipodystrophy
	Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2		Synonym(s): - Barraquer-Simons syndrome - Progressive cephalothoracic lipodystrophy

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		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		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal fat distribution / lipodystrophy - Anomalies of complement - Anomalies of skin, subcutaneous tissue and mucosae - Hirsutism / hypertrichosis / Increased body hair - Insulin resistance - Lipoatrophy - Liver / hepatic steatosis - Myopathy - Renal glomerular defect / glomerulopathy

Familial partial lipodystrophy, Dunnigan type		Partial acquired lipodystrophy
	Very frequent - Autosomal dominant inheritance - Diabetes mellitus - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Muscle hypertrophy - Round face - Skin hypoplasia / aplasia / atrophy - Xanthomas / lipomas Frequent - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Nails anomalies - Precocious menopause / secondary amenorrhea - Premature eruption of teeth / natal teeth - Thin skin Occasional - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Abnormal / polycystic ovaries - Acanthosis nigricans - Angor pectoris / myocardial infarction - Cardiomyopathy / hypertrophic / dilated - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cranial nerves palsy - Heart / cardiac failure - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Myalgia / muscular pain - Pancreatitis - Splenomegaly - Storage liver disease		Frequent - Autoimmunity / autoimmune reaction / autoantibodies - Hearing loss / hypoacusia / deafness - Hematuria / microhematuria - Hyperlymphocytosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Premature ageing - Proteinuria - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Articular / joint pain / arthralgia - Immunodeficiency / increased susceptibility to infections / recurrent infections