ODCs

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Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Buschke-Ollendorff syndrome

1 OMIM reference -
1 associated gene
33 signs/symptoms

Familial partial lipodystrophy, Dunnigan type

Buschke-Ollendorff syndrome

LMNA

(UniProt - OMIM)

LEMD3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	LEMD3

Citations in the biomedical literature:

Familial partial lipodystrophy, Dunnigan type		Buschke-Ollendorff syndrome
	Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2		Synonym(s): - Disseminated dermatofibrosis with osteopoikilosis

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537415


COMMON SIGNS	- Autosomal dominant inheritance - Diabetes mellitus - Myalgia / muscular pain

Familial partial lipodystrophy, Dunnigan type		Buschke-Ollendorff syndrome
	Very frequent - Abnormal fat distribution / lipodystrophy - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Lipoatrophy - Muscle hypertrophy - Round face - Skin hypoplasia / aplasia / atrophy - Xanthomas / lipomas Frequent - Anomalies of skin, subcutaneous tissue and mucosae - 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 - Anomalies of complement - Cardiomyopathy / hypertrophic / dilated - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cranial nerves palsy - Heart / cardiac failure - Hirsutism / hypertrichosis / Increased body hair - Liver / hepatic steatosis - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Myopathy - Pancreatitis - Renal glomerular defect / glomerulopathy - Splenomegaly - Storage liver disease		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anomalies of bones / skeletal anomalies - Bone pain - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Hyperostosis - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Metaphyseal anomaly - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteosclerosis / osteopetrosis / bone condensation - Sarcoma - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Mediastinal / hilar adenopathies - Strabismus / squint Occasional - Abnormal scarring / cheloids / hypertrophic scars - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Diaphyseal anomaly - Insulin-dependent / type 1 diabetes - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Mutiple fractures / bone fragility - Palmoplantar hyperkeratosis / keratoderma - Pigmented naevi / naevus pigmentosus / lentigo - Subcutaneous nodules / lipomas / tumefaction / swelling