ODCs

Click node...

Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

1 OMIM reference -
1 associated gene
5 signs/symptoms

Familial partial lipodystrophy, Dunnigan type

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

LMNA

(UniProt - OMIM)

PYGM

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.63)	PYGM

Citations in the biomedical literature:

Familial partial lipodystrophy, Dunnigan type		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2		Synonym(s): - GSD due to muscle glycogen phosphorylase deficiency - GSD type 5 - Glycogen storage disease type 5 - Glycogenosis due to muscle glycogen phosphorylase deficiency - Glycogenosis type 5 - McArdle disease - Myophosphorylase deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537276 / D006012


COMMON SIGNS	- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Myopathy

Familial partial lipodystrophy, Dunnigan type		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Diabetes mellitus - 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 / 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 - Myalgia / muscular pain - Pancreatitis - Renal glomerular defect / glomerulopathy - Splenomegaly - Storage liver disease		Very frequent - Autosomal recessive inheritance Occasional - Renal failure - Structural anomalies of the cardio-circulatory system