Mental Retardation Epilepsy malady

MalaCards: Mental Retardation Epilepsy, also known as mental retardation, is related to mental retardation syndrome and microcephaly. An important gene associated with Mental Retardation Epilepsy is ARX (aristaless related homeobox). The drugs buspirone hydrochloride and buspirone have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and behavior/neurological.

mental retardation epilepsy 30 mental retardation 43

Diseases related to mental retardation epilepsy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 707)

id	Related Disease	Score	Top Affiliating Genes
1	mental retardation syndrome	32.5	OPHN1, TSPAN32, CACNA1A, ARX, ATRX
2	microcephaly	32.3	SLC9A6, PHF6, ARX, ATRX
3	x-linked mental retardation with epilepsy	31.8	OPHN1, PHOX2A, ARX, ATP6AP2
4	seizures	30.8	ARX, CACNA1A, SRPX2, OPHN1
5	cerebellar hypoplasia	30.7	OPHN1, ARX
6	mental retardation, x-linked	29.5	SLC9A6, OPHN1, SRPX2, ARX, ATP6AP2, ATRX
7	epilepsy syndrome	29.3	ATP6AP2, TSPAN32
8	neuronitis	27.7	SLC9A6, PHOX2A, SRPX2, DLX5, DLX2, CACNA1A
9	autism spectrum disorder	27.3	ATRX, DLX2, OPHN1
10	intellectual disability	26.8	SLC9A6, OPHN1, PHF6, SRPX2, ARX, ATRX
11	strabismus	12.9	PHOX2A, OPHN1
12	tooth agenesis	12.8	DLX2, DLX5
13	autistic disorder	12.5	RBFOX1, ARX, DLX5
14	muscular dystrophy	9.3
15	fragile x syndrome	9.2
16	wagr syndrome	9.2
17	renpenning syndrome 1	9.1
18	congenital muscular dystrophy	8.8
19	ataxia	8.6
20	mental retardation, x-linked, nonspecific	8.6
21	x-linked mental retardation 9	8.6
22	alpha-thalassemia/mental retardation syndrome	8.6
23	alpha thalassemia	8.4
24	short stature	8.4
25	thalassemia	8.4
26	x-linked mental retardation 58	8.4
27	x-linked mental retardation 63	8.4
28	x-linked mental retardation 89	8.4
29	x inactivation	8.4
30	lubs x-linked mental retardation syndrome	8.3
31	mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance	8.3
32	x-linked mental retardation 30	8.3
33	x-linked mental retardation 54	8.3
34	coffin-lowry syndrome	8.1
35	hypogonadism	8.1
36	mowat-wilson syndrome	8.1
37	siderius x-linked mental retardation syndrome	8.1
38	alpha-thalassemia x-linked intellectual disability syndrome	7.9
39	alopecia contractures dwarfism mental retardation	7.9
40	birk-barel syndrome	7.9
41	down syndrome	7.9
42	mental retardation x-linked syndromic 7	7.9
43	mental retardation-hypotonic facies syndrome, x-linked	7.9
44	obesity	7.9
45	partington x-linked mental retardation syndrome	7.9
46	rett syndrome	7.9
47	x-linked mental retardation 90	7.9
48	aniridia	7.7
49	x-linked mental retardation 88	7.7
50	brachydactyly-mental retardation syndrome	7.7

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 buspirone, buspirone hydrochloride

MGI Mouse Phenotypes related to mental retardation epilepsy:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.4	ATP6AP2, ARX, CACNA1A, DLX2, DLX5
2	behavior/neurological phenotype	MP:0005386	6.5	RBFOX1, ATRX, ARX, CACNA1A, DLX2, DLX5
3	nervous system phenotype	MP:0003631	6.4	SLC9A6, OPHN1, PHOX2A, DLX5, DLX2, CACNA1A
4	mortality/aging	MP:0010768	6.3	OPHN1, RBFOX1, ATRX, ATP6AP2, ARX, CACNA1A

Articles related to mental retardation epilepsy:

id	Title	Authors	Year	Affiliating Genes
1	Array-CGH detection of a de novo 0.7-Mb deletion in 1 9p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. (19874387)	Auvin S.... Andrieux J.	2009	CACNA1A
2	Three human ARX mutations cause the lissencephaly-lik e and mental retardation with epilepsy-like pleiotropic phenotypes in mice. (19605412)	Kitamura K.... Goto Y.	2009	ARX
3	A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. (15746149)	Ramser J.... Nguyen G.	2005	ATP6AP2
4	Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. (15376319)	Colombo E.... Broccoli V.	2004	DLX5, ARX, DLX2
5	The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. (15148587)	Bhalla K.... Callen D.F.	2004	RBFOX1
6	Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. (12805098)	Bergmann C.... Ramaekers V.T.	2003	OPHN1
7	X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. (12689693)	Hirose S.... Mitsudome A.	2003	ARX
8	Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. (11889467)	Stroemme P.... Gecz J.	2002	ARX, PHOX2A
9	Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. (11782983)	Hedera P.... Fink J.K.	2002	ATP6AP2, TSPAN32
10	A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. (10632111)	Guerrini R.... Gibbons R.J.	2000	ATRX

Genes related to mental retardation epilepsy according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	ARX	aristaless related homeobox	11.1	Publications, Summaries
2	PHF6	PHD finger protein 6	11.1	Summaries
3	PHOX2A	paired-like homeobox 2a	11.0	Publications
4	ATP6AP2	ATPase, H+ transporting, lysosomal accessory protein 2	11.0	Publications
5	OPHN1	oligophrenin 1	11.0	Publications
6	DLX2	distal-less homeobox 2	11.0	Publications
7	SRPX2	sushi-repeat containing protein, X-linked 2	11.0
8	SLC9A6	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	11.0
9	TSPAN32	tetraspanin 32	11.0	Publications
10	DLX5	distal-less homeobox 5	11.0	Publications
11	ATIC	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	11.0
12	ATRX	alpha thalassemia/mental retardation syndrome X-linked	11.0	Publications
13	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	11.0	Publications
14	RBFOX1	RNA binding protein, fox-1 homolog (C. elegans) 1	11.0	Publications