MCID: MNT192
MIFTS: 31

Mental Retardation, X-Linked, Syndromic, Hedera Type

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

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:

Orphanet: 59  
Rare neurological diseases


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

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

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



Diseases related to Mental Retardation, X-Linked, Syndromic, Hedera Type

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 Frequency 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

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

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

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

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

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

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

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

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

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
Show member pathways
10.71 GABRA1 SCN2A

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

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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