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Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1

Male infertility with normal virilization due to meiosis defect

4 OMIM references -
3 associated genes
No signs/symptoms info

Familial partial lipodystrophy, Dunnigan type

Male infertility with normal virilization due to meiosis defect

LMNA	(UniProt - OMIM)	CFTR	(UniProt - OMIM)
		SOHLH1	(UniProt - OMIM)
		SYCP3	(UniProt - OMIM)


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

Citations in the biomedical literature:

Familial partial lipodystrophy, Dunnigan type		Male infertility with normal virilization due to meiosis defect
	Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2		Synonym(s): - Azoospermia due to maturation arrest - Azoospermia due to meiosis defect - Male infertility with normal virilization due to maturation arrest

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references

Familial partial lipodystrophy, Dunnigan type
	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 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 - Myalgia / muscular pain - Myopathy - Pancreatitis - Renal glomerular defect / glomerulopathy - Splenomegaly - Storage liver disease
Male infertility with normal virilization due to meiosis defect
(no data available)