Classic Rett Syndrome malady

MalaCards: Classic Rett Syndrome, also known as rett syndrome, is related to rett syndrome and neuronitis. An important gene associated with Classic Rett Syndrome is FOXG1 (forkhead box G1), and among its related pathways are Ubiquitin mediated proteolysis and Common schema of ubiquitination. The compounds 5-methylcytosine and cytosine have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and integument.

classic rett syndrome 16 rett syndrome 43

Diseases related to classic rett syndrome by text searches and GeneDecks gene sharing:

(show all 33)

id	Related Disease	Score	Top Affiliating Genes
1	rett syndrome	31.7	MBD4, MECP2, FOXG1, UBE3A, PARK2
2	neuronitis	29.3	PARK2, UBE3A, FOXG1, MECP2, MBD4
3	seizures	28.4	PARK2, UBE3A, MECP2
4	myoclonus	27.3	PARK2, MECP2
5	developmental disabilities	27.2	UBE3A, MECP2
6	hypotonia	26.6	MECP2, FOXG1, UBE3A
7	autism spectrum disorder	26.5	PARK2, UBE3A, MECP2
8	west syndrome	12.7	MECP2, FOXG1
9	aicardi-goutieres syndrome	12.4	MBD4, MECP2
10	microcephaly	11.9	UBE3A, FOXG1, MECP2
11	intellectual disability	11.8	UBE3A, FOXG1, MECP2
12	mental retardation syndrome	11.8	MECP2, UBE3A, PARK2
13	autistic disorder	11.7	UBE3A, MECP2
14	multiple sclerosis	11.6	MBD4, MECP2, FOXG1, PARK2
15	retinoblastoma	11.4	MECP2, UBE3A, PARK2
16	angelman syndrome	11.3	MBD4, MECP2, UBE3A, PARK2
17	breast cancer	10.7	MBD4, MECP2, FOXG1, UBE3A, PARK2
18	rett syndrome, preserved speech variant	7.3
19	atypical rett syndrome	6.9
20	rett syndrome and variant rett syndrome multi-gene panels	6.9
21	autonomic dysfunction	6.8
22	epileptic encephalopathy, early infantile, 2	6.8
23	was-related disorders	6.8
24	x inactivation	6.8
25	scoliosis	5.9
26	spinal muscular atrophy	5.9
27	spasticity	5.9
28	attention deficit hyperactivity disorder	5.9
29	hypoxia	5.9
30	infantile hypotonia	5.9
31	monogenic disease	5.9
32	mental retardation progressive spasticity	5.9
33	muscular atrophy	5.9

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to classic rett syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	8.1	PARK2, UBE3A, FOXG1, MECP2
2	integument phenotype	MP:0010771	8.0	MECP2, FOXG1, UBE3A, PARK2
3	nervous system phenotype	MP:0003631	7.6	MBD4, PARK2, UBE3A, FOXG1, MECP2
4	cellular phenotype	MP:0005384	7.6	FOXG1, UBE3A, PARK2, MBD4, MECP2
5	growth/size phenotype	MP:0005378	7.5	MBD4, MECP2, FOXG1, UBE3A, PARK2
6	mortality/aging	MP:0010768	7.2	MBD4, MECP2, FOXG1, UBE3A, PARK2

Articles related to classic rett syndrome:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. (19365833)	Saunders C.J.... Vincent J.B.	2009	MECP2
2	Homozygosity for MECP2 gene in a girl with classical Rett syndrome. (17881312)	Karall D.... Martorell L.	2007	MECP2
3	Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. (18174559)	Wong V.C.... Li S.Y.	2007	MECP2
4	Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. (17026625)	Pan H.... Yu S.	2006	MECP2
5	A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. (17101000)	Chunshu Y.... Kubota T.	2006	MECP2
6	Another patient with MECP2 mutation without classic Rett syndrome phenotype. (15866439)	Milani D.... Riva D.	2005	UBE3A, PARK2, MECP2
7	Classic Rett syndrome in a boy with R133C mutation of MECP2. (16122633)	Masuyama T.... Kondo I.	2005	MECP2
8	Somatic mosaicism for a MECP2 mutation associated wit h classic Rett syndrome in a boy. (11896459)	TopAsu M.... OzAselik T.	2002	MECP2
9	MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. (11245712)	Auranen M.... JAorvelAo I.	2001	MECP2
10	Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. (11706982)	Armstrong J.... Monros E.	2001	MECP2
11	Preserved speech variant is allelic of classic Rett syndrome. (10854091)	De Bona C.... Renieri A.	2000	MECP2

Genes related to classic rett syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	FOXG1	forkhead box G1	11.0
2	MBD4	methyl-CpG binding domain protein 4	11.0	Publications
3	MECP2	methyl CpG binding protein 2 (Rett syndrome)	11.0	Publications
4	UBE3A	ubiquitin protein ligase E3A	11.0	Publications
5	PARK2	parkinson protein 2, E3 ubiquitin protein ligase (parkin)	11.0	Publications

Pathways related to classic rett syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Ubiquitin mediated proteolysis20	9.1	PARK2, UBE3A
2	Common schema of ubiquitination10	9.0	PARK2, UBE3A
3	Protein Stability3	8.8	PARK2, UBE3A

Compounds related to classic rett syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	5-methylcytosine32 18	10.3	MECP2, MBD4
2	cytosine32 18	10.2	MECP2, MBD4
3	guanine32 9 18 9	11.9	MBD4, MECP2, PARK2
4	oligonucleotide32	8.5	MBD4, MECP2, PARK2
5	alanine32	8.5	MECP2, PARK2, UBE3A
6	zinc32 18	9.1	PARK2, UBE3A, MECP2, MBD4

Biological processes related to classic rett syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of neuron apoptotic process	GO:043524	9.2	PARK2, MECP2
2	protein K48-linked ubiquitination	GO:070936	9.1	PARK2, UBE3A
3	ubiquitin-dependent protein catabolic process	GO:006511	9.1	PARK2, UBE3A
4	brain development	GO:007420	8.9	UBE3A, FOXG1

Molecular functions related to classic rett syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	7.5	PARK2, UBE3A, FOXG1, MECP2, MBD4