General Information of Disease (ID: DISWF699)

Disease Name Atypical Rett syndrome
Synonyms Rett like syndrome; Rett syndrome variant; atypical RTT
Definition A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISWF699: Atypical Rett syndrome
Disease Identifiers
MONDO ID
MONDO_0017746
MESH ID
C567576
UMLS CUI
C2748910
MedGen ID
440664
Orphanet ID
3095
SNOMED CT ID
718393002

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
MECP2 TTTAU9R Supportive Autosomal dominant [1]
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This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDKL5 OTGL5HRV Supportive Autosomal dominant [2]
GABBR2 OT67RIFY Supportive Autosomal dominant [3]
MECP2 OTREZK68 Supportive Autosomal dominant [1]
NTNG1 OTF48IID Supportive Autosomal dominant [4]
SMC1A OT9ZMRK9 Supportive Autosomal dominant [5]
STXBP1 OTRYA8C3 Supportive Autosomal dominant [6]
FOXG1 OTAW57J4 moderate Genetic Variation [7]
HOOK1 OTTTKV7V Strong Genetic Variation [8]
NTNG2 OTTY88DL Definitive Genetic Variation [4]
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⏷ Show the Full List of 9 DOT(s)

References

1 MECP2 Disorders. 2001 Oct 3 [updated 2019 Sep 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003.
3 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032.
4 Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002.
5 The multiple facets of the SMC1A gene. Gene. 2020 Jun 15;743:144612. doi: 10.1016/j.gene.2020.144612. Epub 2020 Mar 25.
6 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. Neuroreport. 2015 Mar 25;26(5):254-7. doi: 10.1097/WNR.0000000000000337.
7 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.
8 MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.Hum Mutat. 2018 May;39(5):717-728. doi: 10.1002/humu.23409. Epub 2018 Mar 8.