Mental Retardation, X-Linked, Syndromic, Hedera Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Hedera Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Hedera Type:

Name: Mental Retardation, X-Linked, Syndromic, Hedera Type ⁵⁷ ¹² ²⁹ ⁶ ⁴⁰

Mrxsh ⁵⁷ ¹² ⁵⁹

Mrxe ⁵⁷ ¹² ⁷⁵

Syndromic X-Linked Intellectual Disability Hedera Type ¹² ¹⁵

Mental Retardation, X-Linked, with Epilepsy ⁷⁵ ⁷³

Mental Retardation, X-Linked, with Epilepsy; Mrxe ⁵⁷

X-Linked Intellectual Disability, Hedera Type ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

x-linked intellectual disability, hedera type
Inheritance: X-linked recessive; Age of onset: Infancy;

OMIM:

⁵⁷

Miscellaneous:
variable expressivity
onset in infancy
two unrelated families have been reported (last curated january 2017)

Inheritance:
x-linked recessive

HPO:

³²

mental retardation, x-linked, syndromic, hedera type:
Onset and clinical course variable expressivity infantile onset
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 300423

Disease Ontology ¹² DOID:0060806

Orphanet ⁵⁹ ORPHA93952

MedGen ⁴² C1845543

MeSH ⁴⁴ D038901

UMLS ⁷³ C1845543

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Summaries for Mental Retardation, X-Linked, Syndromic, Hedera Type

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation, X-linked, with epilepsy: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Hedera Type, also known as mrxsh, is related to infancy electroclinical syndrome and neonatal period electroclinical syndrome, and has symptoms including drop attack An important gene associated with Mental Retardation, X-Linked, Syndromic, Hedera Type is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2), and among its related pathways/superpathways is Taste transduction. Related phenotypes are hypomimic face and delayed speech and language development

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has material basis in mutation in the ATP6AP2 gene on chromosome Xp11.

Description from OMIM: 300423

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Related Diseases for Mental Retardation, X-Linked, Syndromic, Hedera Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	infancy electroclinical syndrome	10.0	ARX SCN2A
2	neonatal period electroclinical syndrome	10.0	ARX SCN2A
3	epileptic encephalopathy, early infantile, 6	10.0	GABRA1 SCN2A
4	infantile epileptic encephalopathy	10.0	ARX SCN2A
5	generalized epilepsy with febrile seizures plus	9.9	GABRA1 SCN2A
6	epilepsy, familial temporal lobe, 3	9.9	LGI1 SCN2A
7	epileptic encephalopathy, early infantile, 15	9.8	ARX SCN2A
8	west syndrome	9.7	ARX SCN2A
9	epilepsy, idiopathic generalized 10	9.4	GABRA1 LGI1 SCN2A
10	epilepsy	9.4	ARX GABRA1 LGI1
11	focal epilepsy	9.2	LGI1 SCN2A
12	epilepsy, idiopathic generalized	8.9	ARX GABRA1 LGI1 SCN2A

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

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Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Hedera Type

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
delayed motor development
mental retardation
seizures, generalized tonic-clonic
delayed speech acquisition
'drop' attacks
more

Neurologic Peripheral Nervous System:
hyporeflexia (family a)

Clinical features from OMIM:

300423

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

³² (show all 16)

#	Description	HPO Source Accession
1	hypomimic face ³²	HP:0000338
2	delayed speech and language development ³²	HP:0000750
3	intellectual disability ³²	HP:0001249
4	hyporeflexia ³²	HP:0001265
5	motor delay ³²	HP:0001270
6	cerebellar atrophy ³²	HP:0001272
7	gait disturbance ³²	HP:0001288
8	parkinsonism ³²	HP:0001300
9	cerebral atrophy ³²	HP:0002059
10	bradykinesia ³²	HP:0002067
11	generalized tonic-clonic seizures ³²	HP:0002069
12	hypoplasia of the corpus callosum ³²	HP:0002079
13	action tremor ³²	HP:0002345
14	babinski sign ³²	HP:0003487
15	astereognosia ³²	HP:0010527
16	agraphesthesia ³²	HP:0011812

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

drop attack

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Sindbis virus (SINV) infection	GR00310-A-1	9.02	ATP6AP2 FURIN LGI1
2	Increased Sindbis virus (SINV) infection	GR00310-A-2	9.02	FURIN LGI1

MGI Mouse Phenotypes related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.1	ARX ATP6AP2 FURIN GABRA1 LGI1 SCN2A

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Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Hedera Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Hedera Type

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Genetic Tests for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

#	Genetic test	Affiliating Genes
1	Mental Retardation, X-Linked, Syndromic, Hedera Type ²⁹	ATP6AP2

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Anatomical Context for Mental Retardation, X-Linked, Syndromic, Hedera Type

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Publications for Mental Retardation, X-Linked, Syndromic, Hedera Type

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Genes for Mental Retardation, X-Linked, Syndromic, Hedera Type

Genes related to Mental Retardation, X-Linked, Syndromic, Hedera Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6AP2	ATPase H+ Transporting Accessory Protein 2	Protein Coding	1375.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	11782983 15746149 26467484
2	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Alpha1 Subunit	Protein Coding	16.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	ARX	Aristaless Related Homeobox	Protein Coding	16.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	15.45	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	15.22	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	15.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	14.87	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Mental Retardation, X-Linked, Syndromic, Hedera Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Hedera Type:

⁶

(show all 23)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATP6AP2	NM_005765.2(ATP6AP2): c.321C> T (p.Asp107=)	single nucleotide variant	Pathogenic	rs121918521	GRCh37	Chromosome X, 40456521: 40456521
2	ATP6AP2	NM_005765.2(ATP6AP2): c.321C> T (p.Asp107=)	single nucleotide variant	Pathogenic	rs121918521	GRCh38	Chromosome X, 40597269: 40597269
3	ATP6AP2	NM_005765.2(ATP6AP2): c.1050T> C (p.Asp350=)	single nucleotide variant	Benign	rs79790275	GRCh37	Chromosome X, 40465004: 40465004
4	ATP6AP2	NM_005765.2(ATP6AP2): c.1050T> C (p.Asp350=)	single nucleotide variant	Benign	rs79790275	GRCh38	Chromosome X, 40605752: 40605752
5	ATP6AP2	NM_005765.2(ATP6AP2): c.490G> A (p.Val164Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142013283	GRCh37	Chromosome X, 40456872: 40456872
6	ATP6AP2	NM_005765.2(ATP6AP2): c.490G> A (p.Val164Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142013283	GRCh38	Chromosome X, 40597620: 40597620
7	ATP6AP2	NM_005765.2(ATP6AP2): c.596G> A (p.Arg199His)	single nucleotide variant	Uncertain significance	rs751433380	GRCh37	Chromosome X, 40458851: 40458851
8	ATP6AP2	NM_005765.2(ATP6AP2): c.596G> A (p.Arg199His)	single nucleotide variant	Uncertain significance	rs751433380	GRCh38	Chromosome X, 40599599: 40599599
9	ATP6AP2	NM_005765.2(ATP6AP2): c.168+6T> A	single nucleotide variant	Pathogenic	rs1057519331	GRCh38	Chromosome X, 40589122: 40589122
10	ATP6AP2	NM_005765.2(ATP6AP2): c.168+6T> A	single nucleotide variant	Pathogenic	rs1057519331	GRCh37	Chromosome X, 40448374: 40448374
11	ATP6AP2	NM_005765.2(ATP6AP2): c.922A> C (p.Asn308His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs756836341	GRCh37	Chromosome X, 40464876: 40464876
12	ATP6AP2	NM_005765.2(ATP6AP2): c.922A> C (p.Asn308His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs756836341	GRCh38	Chromosome X, 40605624: 40605624
13	ATP6AP2	NM_005765.2(ATP6AP2): c.408G> A (p.Met136Ile)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 40456790: 40456790
14	ATP6AP2	NM_005765.2(ATP6AP2): c.408G> A (p.Met136Ile)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 40597538: 40597538
15	ATP6AP2	NM_005765.2(ATP6AP2): c.423C> T (p.Asn141=)	single nucleotide variant	Likely benign		GRCh38	Chromosome X, 40597553: 40597553
16	ATP6AP2	NM_005765.2(ATP6AP2): c.423C> T (p.Asn141=)	single nucleotide variant	Likely benign		GRCh37	Chromosome X, 40456805: 40456805
17	ATP6AP2	NM_005765.2(ATP6AP2): c.953C> A (p.Ala318Asp)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 40464907: 40464907
18	ATP6AP2	NM_005765.2(ATP6AP2): c.953C> A (p.Ala318Asp)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 40605655: 40605655
19	ATP6AP2	NM_005765.2(ATP6AP2): c.840C> G (p.Ile280Met)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 40460115: 40460115
20	ATP6AP2	NM_005765.2(ATP6AP2): c.840C> G (p.Ile280Met)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 40600863: 40600863
21	subset of 11 genes:BCOR; CASK; DDX3X; NYX; USP9X	NC_000023.10: g.(?_39911342)_(41782261_?)dup	duplication	Uncertain significance		GRCh37	Chromosome X, 39911342: 41782261
22	ATP6AP2	NM_005765.2(ATP6AP2): c.858G> A (p.Ala286=)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 40460133: 40460133
23	ATP6AP2	NM_005765.2(ATP6AP2): c.858G> A (p.Ala286=)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 40600881: 40600881

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Expression for Mental Retardation, X-Linked, Syndromic, Hedera Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Hedera Type.

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Pathways for Mental Retardation, X-Linked, Syndromic, Hedera Type

Pathways related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Taste transduction ³⁷ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶	10.71	GABRA1 SCN2A

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GO Terms for Mental Retardation, X-Linked, Syndromic, Hedera Type

Biological processes related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.13	GABRA1 MT-ATP6 SCN2A
2	nervous system development	GO:0007399	8.8	ARX LGI1 SCN2A

Molecular functions related to Mental Retardation, X-Linked, Syndromic, Hedera Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	8.62	GABRA1 SCN2A

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⁷⁶ Wikipedia