ODCs

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Atypical Rett syndrome

3 OMIM references -
4 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy associated with PPARG mutations

1 OMIM reference -
1 associated gene
15 signs/symptoms

Atypical Rett syndrome

Familial partial lipodystrophy associated with PPARG mutations

CDKL5	(UniProt - OMIM)	PPARG	(UniProt - OMIM)
FOXG1	(UniProt - OMIM)
MECP2	(UniProt - OMIM)
NTNG1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Atypical Rett syndrome		Familial partial lipodystrophy associated with PPARG mutations
	Synonym(s): - Atypical RTT - Rett syndrome variant		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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal 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: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Atypical Rett syndrome		Familial partial lipodystrophy associated with PPARG mutations
	Very frequent - Anomalies of ear and hearing - Antitragus abnormal - Camptodactyly of some fingers - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clinodactyly of fifth finger - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Dysplastic / thick / grooved fingernails - EEG anomalies - Fine hair - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing loss / hypoacusia / deafness - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large / bulbous nose - Macrostomia / big mouth - Metacarpal anomalies / Archibald's sign - Microcephaly - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Thick lips - Thin / hypoplastic ala nasi - Urinary / renal lithiasis / kidney stones / nephritic colic		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