MRXE
MCID: MNT192
MIFTS: 35

Mental Retardation, X-Linked, Syndromic, Hedera Type (MRXE)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 generalized epilepsy with febrile seizures plus, 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 are Taste transduction and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Affiliated tissues include temporal lobe, and related phenotypes are intellectual disability and gait disturbance

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 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 gait disturbance 32 HP:0001288
3 delayed speech and language development 32 HP:0000750
4 babinski sign 32 HP:0003487
5 generalized tonic-clonic seizures 32 HP:0002069
6 motor delay 32 HP:0001270
7 apraxia 32 HP:0002186
8 hyporeflexia 32 HP:0001265
9 action tremor 32 HP:0002345
10 cerebellar atrophy 32 HP:0001272
11 bradykinesia 32 HP:0002067
12 hypoplasia of the corpus callosum 32 HP:0002079
13 cerebral atrophy 32 HP:0002059
14 parkinsonism 32 HP:0001300
15 hypomimic face 32 HP:0000338
16 astereognosia 32 HP:0010527
17 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 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.26 ARX ATP6AP2 FURIN REN
2 Increased Sindbis virus (SINV) infection GR00310-A-1 9.02 ATP6AP2 FURIN LGI1
3 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 growth/size/body region MP:0005378 9.73 ARX FURIN GABRA1 LGI1 REN SCN2A
2 mortality/aging MP:0010768 9.7 ARX ATP6AP2 FURIN GABRA1 LGI1 REN
3 muscle MP:0005369 9.26 ARX ATP6AP2 GABRA1 REN
4 nervous system MP:0003631 9.1 ARX FURIN GABRA1 LGI1 REN 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

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Hedera Type:

41
Temporal Lobe

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 34)
# 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.268C> G (p.Pro90Ala) single nucleotide variant Benign rs9014 GRCh37 Chromosome X, 40450585: 40450585
4 ATP6AP2 NM_005765.2(ATP6AP2): c.268C> G (p.Pro90Ala) single nucleotide variant Benign rs9014 GRCh38 Chromosome X, 40591333: 40591333
5 ATP6AP2 NM_005765.2(ATP6AP2): c.285G> A (p.Ser95=) single nucleotide variant Benign rs34217273 GRCh37 Chromosome X, 40450602: 40450602
6 ATP6AP2 NM_005765.2(ATP6AP2): c.285G> A (p.Ser95=) single nucleotide variant Benign rs34217273 GRCh38 Chromosome X, 40591350: 40591350
7 ATP6AP2 NM_005765.2(ATP6AP2): c.868G> C (p.Ala290Pro) single nucleotide variant Benign rs35798522 GRCh37 Chromosome X, 40464822: 40464822
8 ATP6AP2 NM_005765.2(ATP6AP2): c.868G> C (p.Ala290Pro) single nucleotide variant Benign rs35798522 GRCh38 Chromosome X, 40605570: 40605570
9 ATP6AP2 NM_005765.2(ATP6AP2): c.189C> T (p.Leu63=) single nucleotide variant Benign rs150392503 GRCh37 Chromosome X, 40450506: 40450506
10 ATP6AP2 NM_005765.2(ATP6AP2): c.189C> T (p.Leu63=) single nucleotide variant Benign rs150392503 GRCh38 Chromosome X, 40591254: 40591254
11 ATP6AP2 NM_005765.2(ATP6AP2): c.38-5T> C single nucleotide variant Benign rs190477001 GRCh37 Chromosome X, 40448233: 40448233
12 ATP6AP2 NM_005765.2(ATP6AP2): c.38-5T> C single nucleotide variant Benign rs190477001 GRCh38 Chromosome X, 40588981: 40588981
13 ATP6AP2 NM_005765.2(ATP6AP2): c.1050T> C (p.Asp350=) single nucleotide variant Benign rs79790275 GRCh37 Chromosome X, 40465004: 40465004
14 ATP6AP2 NM_005765.2(ATP6AP2): c.1050T> C (p.Asp350=) single nucleotide variant Benign rs79790275 GRCh38 Chromosome X, 40605752: 40605752
15 ATP6AP2 NM_005765.2(ATP6AP2): c.315T> G (p.Ser105Arg) single nucleotide variant Uncertain significance rs745748841 GRCh38 Chromosome X, 40597263: 40597263
16 ATP6AP2 NM_005765.2(ATP6AP2): c.315T> G (p.Ser105Arg) single nucleotide variant Uncertain significance rs745748841 GRCh37 Chromosome X, 40456515: 40456515
17 ATP6AP2 NM_005765.2(ATP6AP2): c.490G> A (p.Val164Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142013283 GRCh37 Chromosome X, 40456872: 40456872
18 ATP6AP2 NM_005765.2(ATP6AP2): c.490G> A (p.Val164Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142013283 GRCh38 Chromosome X, 40597620: 40597620
19 ATP6AP2 NM_005765.2(ATP6AP2): c.596G> A (p.Arg199His) single nucleotide variant Uncertain significance rs751433380 GRCh37 Chromosome X, 40458851: 40458851
20 ATP6AP2 NM_005765.2(ATP6AP2): c.596G> A (p.Arg199His) single nucleotide variant Uncertain significance rs751433380 GRCh38 Chromosome X, 40599599: 40599599
21 ATP6AP2 NM_005765.2(ATP6AP2): c.168+6T> A single nucleotide variant Pathogenic rs1057519331 GRCh38 Chromosome X, 40589122: 40589122
22 ATP6AP2 NM_005765.2(ATP6AP2): c.168+6T> A single nucleotide variant Pathogenic rs1057519331 GRCh37 Chromosome X, 40448374: 40448374
23 ATP6AP2 NM_005765.2(ATP6AP2): c.922A> C (p.Asn308His) single nucleotide variant Conflicting interpretations of pathogenicity rs756836341 GRCh37 Chromosome X, 40464876: 40464876
24 ATP6AP2 NM_005765.2(ATP6AP2): c.922A> C (p.Asn308His) single nucleotide variant Conflicting interpretations of pathogenicity rs756836341 GRCh38 Chromosome X, 40605624: 40605624
25 ATP6AP2 NM_005765.2(ATP6AP2): c.408G> A (p.Met136Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 40456790: 40456790
26 ATP6AP2 NM_005765.2(ATP6AP2): c.408G> A (p.Met136Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 40597538: 40597538
27 ATP6AP2 NM_005765.2(ATP6AP2): c.423C> T (p.Asn141=) single nucleotide variant Likely benign GRCh38 Chromosome X, 40597553: 40597553
28 ATP6AP2 NM_005765.2(ATP6AP2): c.423C> T (p.Asn141=) single nucleotide variant Likely benign GRCh37 Chromosome X, 40456805: 40456805
29 ATP6AP2 NM_005765.2(ATP6AP2): c.953C> A (p.Ala318Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 40464907: 40464907
30 ATP6AP2 NM_005765.2(ATP6AP2): c.953C> A (p.Ala318Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 40605655: 40605655
31 ATP6AP2 NM_005765.2(ATP6AP2): c.840C> G (p.Ile280Met) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 40460115: 40460115
32 ATP6AP2 NM_005765.2(ATP6AP2): c.840C> G (p.Ile280Met) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 40600863: 40600863
33 ATP6AP2 NM_005765.2(ATP6AP2): c.858G> A (p.Ala286=) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 40460133: 40460133
34 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
11.05 GABRA1 SCN2A
2
Show member pathways
10.53 ATP6AP2 REN

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 nervous system development GO:0007399 9.33 ARX LGI1 SCN2A
2 regulation of MAPK cascade GO:0043408 8.96 ATP6AP2 REN
3 angiotensin maturation GO:0002003 8.62 ATP6AP2 REN

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 endopeptidase activity GO:0004175 8.62 FURIN REN

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

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