Details of Disease

General Information of Disease (ID: DISQTBQI)

Disease Name Rett syndrome, congenital variant
Synonyms Rett syndrome, congenital variant
Disease Hierarchy
DISL3OYQ: FOXG1 disorder
DIS2BIP8: Congenital nervous system disorder
DISWF699: Atypical Rett syndrome
DISQTBQI: Rett syndrome, congenital variant
Disease Identifiers
MONDO ID
MONDO_0013270
UMLS CUI
C3150705
OMIM ID
613454
MedGen ID
462055
SNOMED CT ID
702450004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PRKAR2B TTW4Y2M Strong Altered Expression [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARX OTBGYH25 Strong Biomarker [2]
STXBP1 OTRYA8C3 Strong Biomarker [2]
FOXG1 OTAW57J4 Definitive Autosomal dominant [3]
------------------------------------------------------------------------------------

References

1 FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus.Mol Neurobiol. 2019 Jul;56(7):5188-5201. doi: 10.1007/s12035-018-1444-7. Epub 2018 Dec 11.
2 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.Dev Med Child Neurol. 2016 Jan;58(1):93-7. doi: 10.1111/dmcn.12894. Epub 2015 Sep 6.
3 FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19.