X-linked Mental Retardation with Epilepsy malady

MalaCards: X-linked Mental Retardation with Epilepsy, also known as mental retardation, x-linked, with epilepsy, is related to mental retardation syndrome and cerebellar hypoplasia. An important gene associated with X-linked Mental Retardation with Epilepsy is ARX (aristaless related homeobox). The drugs buspirone hydrochloride and buspirone have been mentioned in the context of this disorder. Related mouse phenotype mortality/aging.

OMIM: 300423

x-linked mental retardation with epilepsy 16 mental retardation, x-linked, with epilepsy 33 43 mental retardation, x-linked 43

mental retardation 43 xmre 16

Diseases related to x-linked mental retardation with epilepsy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 705)

id	Related Disease	Score	Top Affiliating Genes
1	mental retardation syndrome	34.1	OPHN1, ARX
2	cerebellar hypoplasia	30.9	OPHN1, ARX
3	spasticity	30.2	ARX, OPHN1
4	mental retardation, x-linked	29.8	ATP6AP2, ARX, OPHN1
5	mental retardation epilepsy	28.8	OPHN1, PHOX2A, ARX, ATP6AP2
6	intellectual disability	27.6	ARX, OPHN1
7	epilepsy syndrome	26.7	ARX, OPHN1
8	strabismus	12.4	PHOX2A, OPHN1
9	microcephaly	9.4
10	muscular dystrophy	9.3
11	fragile x syndrome	9.2
12	wagr syndrome	9.2
13	renpenning syndrome 1	9.1
14	neuronitis	9.0
15	congenital muscular dystrophy	8.8
16	alpha-thalassemia/mental retardation syndrome	8.6
17	ataxia	8.6
18	mental retardation, x-linked, nonspecific	8.6
19	seizures	8.6
20	x-linked mental retardation 9	8.6
21	x-linked mental retardation 89	8.4
22	x inactivation	8.4
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	lubs x-linked mental retardation syndrome	8.3
29	mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance	8.3
30	x-linked mental retardation 30	8.3
31	x-linked mental retardation 54	8.3
32	coffin-lowry syndrome	8.1
33	hypogonadism	8.1
34	mowat-wilson syndrome	8.1
35	siderius x-linked mental retardation syndrome	8.1
36	mental retardation-hypotonic facies syndrome, x-linked	7.9
37	obesity	7.9
38	partington x-linked mental retardation syndrome	7.9
39	rett syndrome	7.9
40	x-linked mental retardation 90	7.9
41	alpha-thalassemia x-linked intellectual disability syndrome	7.9
42	alopecia contractures dwarfism mental retardation	7.9
43	birk-barel syndrome	7.9
44	down syndrome	7.9
45	mental retardation x-linked syndromic 7	7.9
46	wilson-turner x-linked mental retardation syndrome	7.7
47	x-linked mental retardation 17	7.7
48	x-linked mental retardation 45	7.7
49	x-linked mental retardation 59	7.7
50	abidi x-linked mental retardation syndrome	7.7

Clinical features from OMIM: 300423

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 buspirone, buspirone hydrochloride

Genetic tests related to x-linked mental retardation with epilepsy:

id	Genetic test	Affiliating Genes
1	X-linked Mental Retardation With Epilepsy clinical/research	ATP6AP2

MGI Mouse Phenotypes related to x-linked mental retardation with epilepsy:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	8.0	ATP6AP2, ARX, PHOX2A, OPHN1

Articles related to x-linked mental retardation with epilepsy:

id	Title	Authors	Year	Affiliating Genes
1	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
2	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
3	X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. (12689693)	Hirose S.... Mitsudome A.	2003	ARX
4	Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. (11889467)	Stroemme P.... Gecz J.	2002	ARX, PHOX2A

Genes related to x-linked mental retardation with epilepsy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ARX	aristaless related homeobox	11.1	Publications, Summaries
2	PHOX2A	paired-like homeobox 2a	11.0	Publications
3	ATP6AP2	ATPase, H+ transporting, lysosomal accessory protein 2	11.0	Publications
4	OPHN1	oligophrenin 1	11.0	Publications

Biological processes related to x-linked mental retardation with epilepsy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	axon guidance	GO:007411	9.4	ARX, OPHN1