ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Severe neonatal-onset encephalopathy with microcephaly

Familial partial lipodystrophy associated with PPARG mutations


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.63)	PPARG

Citations in the biomedical literature:

Severe neonatal-onset encephalopathy with microcephaly		Familial partial lipodystrophy associated with PPARG mutations
	Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation		Synonym(s): - FPLD3 - Familial partial lipodystrophy type 3

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

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

Familial partial lipodystrophy associated with PPARG mutations
	Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Diabetes mellitus - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea Frequent - Acanthosis nigricans - Hyperuricemia - Liver / hepatic steatosis Occasional - Abnormal / polycystic ovaries - Angor pectoris / myocardial infarction - Cirrhosis - Hirsutism / hypertrichosis / Increased body hair - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
Severe neonatal-onset encephalopathy with microcephaly
(no data available)