ODCs

Cytoscape Web

Click node...

Atypical Rett syndrome

3 OMIM references -
4 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial rhabdoid tumor

2 OMIM references -
2 associated genes
No signs/symptoms info

Atypical Rett syndrome

Familial rhabdoid tumor

CDKL5	(UniProt - OMIM)		SMARCA4	(UniProt - OMIM)
FOXG1	(UniProt - OMIM)		SMARCB1	(UniProt - OMIM)
MECP2	(UniProt - OMIM)
NTNG1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.92)	SMARCB1

Citations in the biomedical literature:

Atypical Rett syndrome		Familial rhabdoid tumor
	Synonym(s): - Atypical RTT - Rett syndrome variant		Synonym(s): - RTPS - Rhabdoid tumor predisposition syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	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: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references

Atypical Rett syndrome
	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
Familial rhabdoid tumor
(no data available)