MRXSR
MCID: MNT057
MIFTS: 21

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

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 57 29 6 72
Mental Retardation, X-Linked Syndromic, Raymond Type 57 13 40
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 74
Mrxsr 57
Mrxsz 74

Characteristics:

HPO:

32
mental retardation, x-linked, syndromic, raymond type:
Inheritance x-linked inheritance


Classifications:



External Ids:

MeSH 44 D038901
UMLS 72 C3275406

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

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 300799 PS309510

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 11.8

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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 obligate (100%) HP:0001249
2 behavioral abnormality 32 occasional (7.5%) HP:0000708
3 pectus carinatum 32 HP:0000768
4 pes planus 32 HP:0001763
5 protruding ear 32 HP:0000411
6 strabismus 32 HP:0000486
7 arachnodactyly 32 HP:0001166
8 disproportionate tall stature 32 HP:0001519
9 joint contracture of the 5th finger 32 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 29 ZDHHC9

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

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

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

# Title Authors PMID Year
1
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 8 71
17436253 2007
2
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 8
19377476 2009

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

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

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZDHHC9 NM_001008222.3(ZDHHC9): c.286C> T (p.Arg96Trp) single nucleotide variant Pathogenic rs1131690786 X:128962999-128962999 X:129829023-129829023
2 ZDHHC9 NM_001008222.3(ZDHHC9): c.172_175del (p.Arg58fs) deletion Pathogenic rs606231182 X:128963110-128963113 X:129829134-129829137
3 ZDHHC9 NM_001008222.3(ZDHHC9): c.167+5G> C single nucleotide variant Pathogenic rs606231183 X:128975750-128975750 X:129841774-129841774
4 ZDHHC9 NM_001008222.3(ZDHHC9): c.442C> T (p.Arg148Trp) single nucleotide variant Pathogenic rs137852214 X:128957700-128957700 X:129823724-129823724
5 ZDHHC9 NM_001008222.3(ZDHHC9): c.448C> T (p.Pro150Ser) single nucleotide variant Pathogenic rs137852215 X:128957694-128957694 X:129823718-129823718
6 ZDHHC9 NM_001008222.3(ZDHHC9): c.268G> A (p.Asp90Asn) single nucleotide variant Likely pathogenic X:128963017-128963017 X:129829041-129829041
7 ZDHHC9 NM_001008222.3(ZDHHC9): c.399C> A (p.Asn133Lys) single nucleotide variant Uncertain significance X:128957743-128957743 X:129823767-129823767
8 ZDHHC9 NM_001008222.3(ZDHHC9): c.881+3G> A single nucleotide variant Uncertain significance rs775743190 X:128945379-128945379 X:129811403-129811403
9 ZDHHC9 NM_001008222.3(ZDHHC9): c.893G> A (p.Arg298Gln) single nucleotide variant Uncertain significance rs869312679 X:128944966-128944966 X:129810990-129810990
10 ZDHHC9 NM_001008222.3(ZDHHC9): c.1001C> T (p.Ser334Leu) single nucleotide variant Uncertain significance X:128940440-128940440 X:129806464-129806464
11 ZDHHC9 NM_001008222.3(ZDHHC9): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance X:128940428-128940428 X:129806452-129806452
12 ZDHHC9 NM_001008222.3(ZDHHC9): c.929G> A (p.Arg310Gln) single nucleotide variant Uncertain significance X:128944930-128944930 X:129810954-129810954
13 ZDHHC9 NM_001008222.3(ZDHHC9): c.598G> A (p.Ala200Thr) single nucleotide variant Uncertain significance X:128948661-128948661 X:129814685-129814685
14 ZDHHC9 NM_001008222.3(ZDHHC9): c.777C> T (p.Asp259=) single nucleotide variant Uncertain significance rs751918374 X:128946694-128946694 X:129812718-129812718
15 ZDHHC9 NM_001008222.3(ZDHHC9): c.332C> T (p.Ala111Val) single nucleotide variant Uncertain significance rs1556006489 X:128957810-128957810 X:129823834-129823834
16 ZDHHC9 NM_001008222.3(ZDHHC9): c.397A> C (p.Asn133His) single nucleotide variant Uncertain significance rs1556006445 X:128957745-128957745 X:129823769-129823769
17 ZDHHC9 NM_001008222.3(ZDHHC9): c.1064_1065insCCCACAGCC (p.Pro355_Gln357dup) insertion Uncertain significance rs1413822794 X:128940376-128940377 X:129806400-129806401
18 ZDHHC9 NM_001008222.3(ZDHHC9): c.1056C> T (p.Pro352=) single nucleotide variant Likely benign rs1381138968 X:128940385-128940385 X:129806409-129806409
19 ZDHHC9 NM_001008222.3(ZDHHC9): c.900T> C (p.Gly300=) single nucleotide variant Likely benign rs1556004503 X:128944959-128944959 X:129810983-129810983
20 ZDHHC9 NM_001008222.3(ZDHHC9): c.876C> T (p.Pro292=) single nucleotide variant Likely benign rs1556004557 X:128945387-128945387 X:129811411-129811411
21 ZDHHC9 NM_001008222.3(ZDHHC9): c.519G> A (p.Gly173=) single nucleotide variant Likely benign rs766780497 X:128948740-128948740 X:129814764-129814764
22 ZDHHC9 NM_001008222.3(ZDHHC9): c.489G> A (p.Glu163=) single nucleotide variant Likely benign rs1339214564 X:128948770-128948770 X:129814794-129814794
23 ZDHHC9 NM_001008222.3(ZDHHC9): c.873G> A (p.Leu291=) single nucleotide variant Likely benign rs1556004565 X:128945390-128945390 X:129811414-129811414
24 ZDHHC9 NM_001008222.3(ZDHHC9): c.858G> T (p.Val286=) single nucleotide variant Likely benign rs1556004572 X:128945405-128945405 X:129811429-129811429
25 ZDHHC9 NM_001008222.3(ZDHHC9): c.975C> T (p.Ser325=) single nucleotide variant Benign/Likely benign rs139619000 X:128944884-128944884 X:129810908-129810908
26 ZDHHC9 NM_001008222.3(ZDHHC9): c.674+9C> T single nucleotide variant Benign rs376385410 X:128947644-128947644 X:129813668-129813668
27 ZDHHC9 NM_001008222.3(ZDHHC9): c.626-10A> T single nucleotide variant Benign rs188156112 X:128947711-128947711 X:129813735-129813735
28 ZDHHC9 NM_001008222.3(ZDHHC9): c.167+10G> A single nucleotide variant Benign rs140526450 X:128975745-128975745 X:129841769-129841769

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

74
# Symbol AA change Variation ID SNP ID
1 ZDHHC9 p.Arg148Trp VAR_062674 rs137852214
2 ZDHHC9 p.Pro150Ser VAR_062675 rs137852215

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

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

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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