MRXSR
MCID: MNT057
MIFTS: 22

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 56 29 6 71
Mental Retardation, X-Linked Syndromic, Raymond Type 56 13 39
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 73
Mrxsr 56
Mrxsz 73

Characteristics:

HPO:

31
mental retardation, x-linked, syndromic, raymond type:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 56 300799
OMIM Phenotypic Series 56 PS309510
MeSH 43 D038901
UMLS 71 C3275406

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

UniProtKB/Swiss-Prot : 73 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 Palmitoyltransferase 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 obligate (100%) HP:0001249
2 behavioral abnormality 31 occasional (7.5%) HP:0000708
3 pectus carinatum 31 HP:0000768
4 pes planus 31 HP:0001763
5 protruding ear 31 HP:0000411
6 strabismus 31 HP:0000486
7 arachnodactyly 31 HP:0001166
8 disproportionate tall stature 31 HP:0001519
9 joint contracture of the 5th finger 31 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. 6 56
17436253 2007
2
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZDHHC9 NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs)deletion Pathogenic 10709 rs606231182 X:128963110-128963113 X:129829134-129829137
2 ZDHHC9 NM_016032.4(ZDHHC9):c.167+5G>CSNV Pathogenic 10710 rs606231183 X:128975750-128975750 X:129841774-129841774
3 ZDHHC9 NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)SNV Pathogenic 10711 rs137852214 X:128957700-128957700 X:129823724-129823724
4 ZDHHC9 NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser)SNV Pathogenic 10712 rs137852215 X:128957694-128957694 X:129823718-129823718
5 ZDHHC9 NM_016032.4(ZDHHC9):c.286C>T (p.Arg96Trp)SNV Pathogenic 429192 rs1131690786 X:128962999-128962999 X:129829023-129829023
6 ZDHHC9 NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)SNV Likely pathogenic 619977 rs1569321518 X:128963017-128963017 X:129829041-129829041
7 ZDHHC9 NM_016032.4(ZDHHC9):c.399C>A (p.Asn133Lys)SNV Uncertain significance 641121 X:128957743-128957743 X:129823767-129823767
8 ZDHHC9 NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln)SNV Uncertain significance 224105 rs869312679 X:128944966-128944966 X:129810990-129810990
9 ZDHHC9 NM_016032.4(ZDHHC9):c.881+3G>ASNV Uncertain significance 537741 rs775743190 X:128945379-128945379 X:129811403-129811403
10 ZDHHC9 NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu)SNV Uncertain significance 577658 X:128940440-128940440 X:129806464-129806464
11 ZDHHC9 NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu)SNV Uncertain significance 569982 X:128940428-128940428 X:129806452-129806452
12 ZDHHC9 NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)SNV Uncertain significance 575731 X:128944930-128944930 X:129810954-129810954
13 ZDHHC9 NM_016032.4(ZDHHC9):c.598G>A (p.Ala200Thr)SNV Uncertain significance 573424 X:128948661-128948661 X:129814685-129814685
14 ZDHHC9 NM_016032.4(ZDHHC9):c.397A>C (p.Asn133His)SNV Uncertain significance 470199 rs1556006445 X:128957745-128957745 X:129823769-129823769
15 ZDHHC9 NM_016032.4(ZDHHC9):c.777C>T (p.Asp259=)SNV Uncertain significance 470202 rs751918374 X:128946694-128946694 X:129812718-129812718
16 ZDHHC9 NM_016032.4(ZDHHC9):c.332C>T (p.Ala111Val)SNV Uncertain significance 537742 rs1556006489 X:128957810-128957810 X:129823834-129823834
17 ZDHHC9 NM_016032.4(ZDHHC9):c.1064_1065insCCCACAGCC (p.Pro355_Gln357dup)insertion Uncertain significance 470198 rs1413822794 X:128940376-128940377 X:129806400-129806401
18 ZDHHC9 NM_016032.4(ZDHHC9):c.1056C>T (p.Pro352=)SNV Likely benign 470197 rs1381138968 X:128940385-128940385 X:129806409-129806409
19 ZDHHC9 NM_016032.4(ZDHHC9):c.900T>C (p.Gly300=)SNV Likely benign 470204 rs1556004503 X:128944959-128944959 X:129810983-129810983
20 ZDHHC9 NM_016032.4(ZDHHC9):c.876C>T (p.Pro292=)SNV Likely benign 470203 rs1556004557 X:128945387-128945387 X:129811411-129811411
21 ZDHHC9 NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=)SNV Likely benign 470201 rs766780497 X:128948740-128948740 X:129814764-129814764
22 ZDHHC9 NM_016032.4(ZDHHC9):c.873G>A (p.Leu291=)SNV Likely benign 537743 rs1556004565 X:128945390-128945390 X:129811414-129811414
23 ZDHHC9 NM_016032.4(ZDHHC9):c.858G>T (p.Val286=)SNV Likely benign 537746 rs1556004572 X:128945405-128945405 X:129811429-129811429
24 ZDHHC9 NM_016032.4(ZDHHC9):c.489G>A (p.Glu163=)SNV Likely benign 470200 rs1339214564 X:128948770-128948770 X:129814794-129814794
25 ZDHHC9 NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)SNV Benign/Likely benign 470205 rs139619000 X:128944884-128944884 X:129810908-129810908
26 ZDHHC9 NM_016032.4(ZDHHC9):c.674+9C>TSNV Benign 537745 rs376385410 X:128947644-128947644 X:129813668-129813668
27 ZDHHC9 NM_016032.4(ZDHHC9):c.626-10A>TSNV Benign 537744 rs188156112 X:128947711-128947711 X:129813735-129813735
28 ZDHHC9 NM_016032.4(ZDHHC9):c.167+10G>ASNV Benign 196472 rs140526450 X:128975745-128975745 X:129841769-129841769

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

73
# 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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