MRXSZ
MCID: MNT057
MIFTS: 18

Mental Retardation, X-Linked, Syndromic, Raymond Type (MRXSZ)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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

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

Name: Mental Retardation, X-Linked, Syndromic, Raymond Type 58 30 6 74
Mental Retardation, X-Linked Syndromic, Raymond Type 58 13 41
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 76
Mrxsr 58
Mrxsz 76

Characteristics:

HPO:

33
mental retardation, x-linked, syndromic, raymond type:
Inheritance x-linked inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked, syndromic, ZDHHC9-related: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSZ patients have marfanoid habitus as an additional feature.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Raymond Type, also known as mental retardation, x-linked syndromic, raymond type, is related to syndromic x-linked intellectual disability raymond type. An important gene associated with Mental Retardation, X-Linked, Syndromic, Raymond Type is ZDHHC9 (Zinc Finger DHHC-Type Containing 9). Related phenotypes are intellectual disability and behavioral abnormality

Description from OMIM: 300799

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

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

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability raymond type 11.7

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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 obligate (100%) HP:0001249
2 behavioral abnormality 33 occasional (7.5%) HP:0000708
3 pectus carinatum 33 HP:0000768
4 pes planus 33 HP:0001763
5 strabismus 33 HP:0000486
6 protruding ear 33 HP:0000411
7 arachnodactyly 33 HP:0001166
8 disproportionate tall stature 33 HP:0001519
9 joint contracture of the 5th finger 33 HP:0009183

Clinical features from OMIM:

300799

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

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

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

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

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Raymond Type 30 ZDHHC9

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

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

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

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Raymond Type:

76
# Symbol AA change Variation ID SNP ID
1 ZDHHC9 p.Arg148Trp VAR_062674 rs137852214
2 ZDHHC9 p.Pro150Ser VAR_062675 rs137852215

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

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZDHHC9 NM_016032.3(ZDHHC9): c.167+10G> A single nucleotide variant Benign rs140526450 GRCh37 Chromosome X, 128975745: 128975745
2 ZDHHC9 NM_016032.3(ZDHHC9): c.167+10G> A single nucleotide variant Benign rs140526450 GRCh38 Chromosome X, 129841769: 129841769
3 ZDHHC9 NM_001008222.2(ZDHHC9): c.172_175delCGCT (p.Arg58Thrfs) deletion Pathogenic rs606231182 GRCh38 Chromosome X, 129829134: 129829137
4 ZDHHC9 NM_001008222.2(ZDHHC9): c.172_175delCGCT (p.Arg58Thrfs) deletion Pathogenic rs606231182 GRCh37 Chromosome X, 128963110: 128963113
5 ZDHHC9 NM_001008222.2(ZDHHC9): c.167+5G> C single nucleotide variant Pathogenic rs606231183 GRCh38 Chromosome X, 129841774: 129841774
6 ZDHHC9 NM_001008222.2(ZDHHC9): c.167+5G> C single nucleotide variant Pathogenic rs606231183 GRCh37 Chromosome X, 128975750: 128975750
7 ZDHHC9 NM_001008222.2(ZDHHC9): c.442C> T (p.Arg148Trp) single nucleotide variant Pathogenic rs137852214 GRCh37 Chromosome X, 128957700: 128957700
8 ZDHHC9 NM_001008222.2(ZDHHC9): c.442C> T (p.Arg148Trp) single nucleotide variant Pathogenic rs137852214 GRCh38 Chromosome X, 129823724: 129823724
9 ZDHHC9 NM_001008222.2(ZDHHC9): c.448C> T (p.Pro150Ser) single nucleotide variant Pathogenic rs137852215 GRCh37 Chromosome X, 128957694: 128957694
10 ZDHHC9 NM_001008222.2(ZDHHC9): c.448C> T (p.Pro150Ser) single nucleotide variant Pathogenic rs137852215 GRCh38 Chromosome X, 129823718: 129823718
11 ZDHHC9 NM_001008222.2(ZDHHC9): c.893G> A (p.Arg298Gln) single nucleotide variant Uncertain significance rs869312679 GRCh37 Chromosome X, 128944966: 128944966
12 ZDHHC9 NM_001008222.2(ZDHHC9): c.893G> A (p.Arg298Gln) single nucleotide variant Uncertain significance rs869312679 GRCh38 Chromosome X, 129810990: 129810990
13 ZDHHC9 NM_001008222.2(ZDHHC9): c.286C> T (p.Arg96Trp) single nucleotide variant Pathogenic rs1131690786 GRCh37 Chromosome X, 128962999: 128962999
14 ZDHHC9 NM_001008222.2(ZDHHC9): c.286C> T (p.Arg96Trp) single nucleotide variant Pathogenic rs1131690786 GRCh38 Chromosome X, 129829023: 129829023
15 ZDHHC9 NM_016032.3(ZDHHC9): c.489G> A (p.Glu163=) single nucleotide variant Likely benign rs1339214564 GRCh38 Chromosome X, 129814794: 129814794
16 ZDHHC9 NM_016032.3(ZDHHC9): c.489G> A (p.Glu163=) single nucleotide variant Likely benign rs1339214564 GRCh37 Chromosome X, 128948770: 128948770
17 ZDHHC9 NM_016032.3(ZDHHC9): c.1064_1065insCCCACAGCC (p.Gln357_Glu358insProProGln) insertion Uncertain significance rs1413822794 GRCh37 Chromosome X, 128940376: 128940377
18 ZDHHC9 NM_016032.3(ZDHHC9): c.1064_1065insCCCACAGCC (p.Gln357_Glu358insProProGln) insertion Uncertain significance rs1413822794 GRCh38 Chromosome X, 129806400: 129806401
19 ZDHHC9 NM_016032.3(ZDHHC9): c.1056C> T (p.Pro352=) single nucleotide variant Likely benign rs1381138968 GRCh38 Chromosome X, 129806409: 129806409
20 ZDHHC9 NM_016032.3(ZDHHC9): c.1056C> T (p.Pro352=) single nucleotide variant Likely benign rs1381138968 GRCh37 Chromosome X, 128940385: 128940385
21 ZDHHC9 NM_016032.3(ZDHHC9): c.900T> C (p.Gly300=) single nucleotide variant Likely benign rs1556004503 GRCh38 Chromosome X, 129810983: 129810983
22 ZDHHC9 NM_016032.3(ZDHHC9): c.900T> C (p.Gly300=) single nucleotide variant Likely benign rs1556004503 GRCh37 Chromosome X, 128944959: 128944959
23 ZDHHC9 NM_016032.3(ZDHHC9): c.876C> T (p.Pro292=) single nucleotide variant Likely benign rs1556004557 GRCh38 Chromosome X, 129811411: 129811411
24 ZDHHC9 NM_016032.3(ZDHHC9): c.876C> T (p.Pro292=) single nucleotide variant Likely benign rs1556004557 GRCh37 Chromosome X, 128945387: 128945387
25 ZDHHC9 NM_016032.3(ZDHHC9): c.519G> A (p.Gly173=) single nucleotide variant Likely benign rs766780497 GRCh38 Chromosome X, 129814764: 129814764
26 ZDHHC9 NM_016032.3(ZDHHC9): c.519G> A (p.Gly173=) single nucleotide variant Likely benign rs766780497 GRCh37 Chromosome X, 128948740: 128948740
27 ZDHHC9 NM_016032.3(ZDHHC9): c.397A> C (p.Asn133His) single nucleotide variant Uncertain significance rs1556006445 GRCh38 Chromosome X, 129823769: 129823769
28 ZDHHC9 NM_016032.3(ZDHHC9): c.397A> C (p.Asn133His) single nucleotide variant Uncertain significance rs1556006445 GRCh37 Chromosome X, 128957745: 128957745
29 ZDHHC9 NM_016032.3(ZDHHC9): c.975C> T (p.Ser325=) single nucleotide variant Benign/Likely benign rs139619000 GRCh37 Chromosome X, 128944884: 128944884
30 ZDHHC9 NM_016032.3(ZDHHC9): c.975C> T (p.Ser325=) single nucleotide variant Benign/Likely benign rs139619000 GRCh38 Chromosome X, 129810908: 129810908
31 ZDHHC9 NM_016032.3(ZDHHC9): c.777C> T (p.Asp259=) single nucleotide variant Uncertain significance rs751918374 GRCh37 Chromosome X, 128946694: 128946694
32 ZDHHC9 NM_016032.3(ZDHHC9): c.777C> T (p.Asp259=) single nucleotide variant Uncertain significance rs751918374 GRCh38 Chromosome X, 129812718: 129812718
33 ZDHHC9 NM_016032.3(ZDHHC9): c.858G> T (p.Val286=) single nucleotide variant Likely benign rs1556004572 GRCh37 Chromosome X, 128945405: 128945405
34 ZDHHC9 NM_016032.3(ZDHHC9): c.858G> T (p.Val286=) single nucleotide variant Likely benign rs1556004572 GRCh38 Chromosome X, 129811429: 129811429
35 ZDHHC9 NM_016032.3(ZDHHC9): c.674+9C> T single nucleotide variant Benign rs376385410 GRCh37 Chromosome X, 128947644: 128947644
36 ZDHHC9 NM_016032.3(ZDHHC9): c.674+9C> T single nucleotide variant Benign rs376385410 GRCh38 Chromosome X, 129813668: 129813668
37 ZDHHC9 NM_016032.3(ZDHHC9): c.332C> T (p.Ala111Val) single nucleotide variant Uncertain significance rs1556006489 GRCh38 Chromosome X, 129823834: 129823834
38 ZDHHC9 NM_016032.3(ZDHHC9): c.332C> T (p.Ala111Val) single nucleotide variant Uncertain significance rs1556006489 GRCh37 Chromosome X, 128957810: 128957810
39 ZDHHC9 NM_016032.3(ZDHHC9): c.873G> A (p.Leu291=) single nucleotide variant Likely benign rs1556004565 GRCh37 Chromosome X, 128945390: 128945390
40 ZDHHC9 NM_016032.3(ZDHHC9): c.873G> A (p.Leu291=) single nucleotide variant Likely benign rs1556004565 GRCh38 Chromosome X, 129811414: 129811414
41 ZDHHC9 NM_016032.3(ZDHHC9): c.626-10A> T single nucleotide variant Benign rs188156112 GRCh37 Chromosome X, 128947711: 128947711
42 ZDHHC9 NM_016032.3(ZDHHC9): c.626-10A> T single nucleotide variant Benign rs188156112 GRCh38 Chromosome X, 129813735: 129813735
43 ZDHHC9 NM_016032.3(ZDHHC9): c.881+3G> A single nucleotide variant Uncertain significance rs775743190 GRCh37 Chromosome X, 128945379: 128945379
44 ZDHHC9 NM_016032.3(ZDHHC9): c.881+3G> A single nucleotide variant Uncertain significance rs775743190 GRCh38 Chromosome X, 129811403: 129811403
45 ZDHHC9 NM_016032.3(ZDHHC9): c.1001C> T (p.Ser334Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 129806464: 129806464
46 ZDHHC9 NM_016032.3(ZDHHC9): c.1001C> T (p.Ser334Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 128940440: 128940440
47 ZDHHC9 NM_016032.3(ZDHHC9): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 128940428: 128940428
48 ZDHHC9 NM_016032.3(ZDHHC9): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 129806452: 129806452
49 ZDHHC9 NM_016032.3(ZDHHC9): c.929G> A (p.Arg310Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 128944930: 128944930
50 ZDHHC9 NM_016032.3(ZDHHC9): c.929G> A (p.Arg310Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 129810954: 129810954

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

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

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

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

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