ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Intellectual deficit, X-linked - psychosis - macroorchidism

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:

Intellectual deficit, X-linked - psychosis - macroorchidism		Familial partial lipodystrophy associated with PPARG mutations
	Synonym(s): - Lindsay-Burn syndrome - PPM-X		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): - Mental and behavioural disorders -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant		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

Intellectual deficit, X-linked - psychosis - macroorchidism		Familial partial lipodystrophy associated with PPARG mutations
	Very frequent - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroorchidism / macrotestes - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - Abnormal gait - EEG anomalies - Long / large ear - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Psychic / psychomotor regression / dementia / intellectual decline - Scoliosis - Structural anomalies of the cardio-circulatory system		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