Details of Disease | DrugMAP

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 8 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]
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 8 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.