ODCs

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Rett syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy associated with PPARG mutations

1 OMIM reference -
1 associated gene
15 signs/symptoms

Rett syndrome

Familial partial lipodystrophy associated with PPARG mutations

MECP2

(UniProt - OMIM)

PPARG

(UniProt - OMIM)


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

Citations in the biomedical literature:

Rett syndrome		Familial partial lipodystrophy associated with PPARG mutations
	Synonym(s): (no synonyms)		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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: adult 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 - 1 MeSH reference: D015518		External references: 1 OMIM reference - No MeSH references

Rett syndrome		Familial partial lipodystrophy associated with PPARG mutations
	Very frequent - EEG anomalies - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Movement disorder - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Skull / cranial anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tics / stereotypias - X-linked dominant inheritance Frequent - Anomalies of teeth and dentition - Ataxia / incoordination / trouble of the equilibrium - Autism / autistic disoders - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dystonia / torticollis / writer's cramp / blepharospasms - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Metacarpal anomalies / Archibald's sign - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis Occasional - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Arnold-Chiari anomaly - Arthrogryposis - Auto-aggressivity / auto-mutilation - Cardiac rhythm disorder / arrhythmia - Early death / lethality - Failure to thrive / difficulties for feeding in infancy / growth delay - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatomegaly / liver enlargement (excluding storage disease) - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Psychic / psychomotor regression / dementia / intellectual decline - Restricted joint mobility / joint stiffness / ankylosis - Small foot		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