MRXSR
MCID: INT369
MIFTS: 24

Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type (MRXSR)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 56
Mental Retardation, X-Linked, Syndromic, Raymond Type 56 29 6
Mental Retardation, X-Linked Syndromic, Raymond Type 56 13 39
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 73
Mrxsr 56
Mrxsz 73

Characteristics:

OMIM:

56
Inheritance:
x-linked

Miscellaneous:
seizure onset mid-childhood
seizure remission adolescence


HPO:

31
intellectual developmental disorder, x-linked, syndromic, raymond type:
Inheritance x-linked inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

OMIM : 56 Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by Baker et al., 2015 and Schirwani et al., 2018). (300799)

MalaCards based summary : Intellectual Developmental Disorder, 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 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type is ZDHHC9 (Zinc Finger DHHC-Type Palmitoyltransferase 9). Related phenotypes are intellectual disability and behavioral abnormality

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.

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Diseases related to Intellectual Developmental Disorder, 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 11.3

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Human phenotypes related to Intellectual Developmental Disorder, 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 strabismus 31 HP:0000486
6 arachnodactyly 31 HP:0001166
7 disproportionate tall stature 31 HP:0001519
8 protruding ear 31 HP:0000411
9 joint contracture of the 5th finger 31 HP:0009183

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Skeletal Feet:
pes planus
long toes

Head And Neck Face:
broad forehead
high hairline

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
downslanting palpebral fissures

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
behavioral problem

Head And Neck Nose:
upturned nose

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Skeletal Limbs:
joint hypermobility
long, thin limbs

Skeletal Hands:
long fingers

Neurologic Central Nervous System:
developmental delay
hypoplastic corpus callosum
mental retardation, mild-moderate
speech delay (particularly expressive)
focal seizures
more
Head And Neck Ears:
large ears

Growth Other:
marfanoid body habitus

Clinical features from OMIM:

300799

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Genetic tests related to Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Raymond Type 29 ZDHHC9

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type:

# Title Authors PMID Year
1
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 56 6
29681091 2018
2
The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing. 6 56
28687527 2017
3
Next-generation sequencing in X-linked intellectual disability. 6 56
25649377 2015
4
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 56 6
17436253 2007
5
Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. 56
26000327 2015
6
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6
19377476 2009

Variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type:

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZDHHC9 NM_016032.4(ZDHHC9):c.286C>T (p.Arg96Trp)SNV Pathogenic 429192 rs1131690786 X:128962999-128962999 X:129829023-129829023
2 ZDHHC9 NC_000023.10:g.(?_128946967)_(128948896_?)deldeletion Pathogenic 873026 X:128946967-128948896
3 ZDHHC9 NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs)deletion Pathogenic 10709 rs606231182 X:128963110-128963113 X:129829134-129829137
4 ZDHHC9 NM_016032.4(ZDHHC9):c.167+5G>CSNV Pathogenic 10710 rs606231183 X:128975750-128975750 X:129841774-129841774
5 ZDHHC9 NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)SNV Pathogenic 10711 rs137852214 X:128957700-128957700 X:129823724-129823724
6 ZDHHC9 NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser)SNV Pathogenic 10712 rs137852215 X:128957694-128957694 X:129823718-129823718
7 ZDHHC9 NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)SNV Likely pathogenic 619977 rs1569321518 X:128963017-128963017 X:129829041-129829041
8 ZDHHC9 NM_016032.4(ZDHHC9):c.399C>A (p.Asn133Lys)SNV Uncertain significance 641121 X:128957743-128957743 X:129823767-129823767
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 rs748573163 X:128940440-128940440 X:129806464-129806464
11 ZDHHC9 NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu)SNV Uncertain significance 569982 rs753807510 X:128940428-128940428 X:129806452-129806452
12 ZDHHC9 NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)SNV Uncertain significance 575731 rs753387074 X:128944930-128944930 X:129810954-129810954
13 ZDHHC9 NM_016032.4(ZDHHC9):c.598G>A (p.Ala200Thr)SNV Uncertain significance 573424 rs769527426 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 NC_000023.10:g.(?_128674397)_(128975941_?)dupduplication Uncertain significance 831120 X:128674397-128975941
18 ZDHHC9 NM_016032.4(ZDHHC9):c.925A>G (p.Ser309Gly)SNV Uncertain significance 863453 X:128944934-128944934 X:129810958-129810958
19 ZDHHC9 NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln)SNV Uncertain significance 224105 rs869312679 X:128944966-128944966 X:129810990-129810990
20 ZDHHC9 NM_016032.4(ZDHHC9):c.808G>A (p.Val270Ile)SNV Likely benign 833652 X:128945455-128945455 X:129811479-129811479
21 ZDHHC9 NM_016032.4(ZDHHC9):c.85G>A (p.Val29Ile)SNV Likely benign 833912 X:128975837-128975837 X:129841861-129841861
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.1064_1065insCCCACAGCC (p.Pro355_Gln357dup)insertion Likely benign 470198 rs1413822794 X:128940376-128940377 X:129806400-129806401
26 ZDHHC9 NM_016032.4(ZDHHC9):c.1056C>T (p.Pro352=)SNV Likely benign 470197 rs1381138968 X:128940385-128940385 X:129806409-129806409
27 ZDHHC9 NM_016032.4(ZDHHC9):c.900T>C (p.Gly300=)SNV Likely benign 470204 rs1556004503 X:128944959-128944959 X:129810983-129810983
28 ZDHHC9 NM_016032.4(ZDHHC9):c.876C>T (p.Pro292=)SNV Likely benign 470203 rs1556004557 X:128945387-128945387 X:129811411-129811411
29 ZDHHC9 NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=)SNV Likely benign 470201 rs766780497 X:128948740-128948740 X:129814764-129814764
30 ZDHHC9 NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)SNV Benign/Likely benign 470205 rs139619000 X:128944884-128944884 X:129810908-129810908
31 ZDHHC9 NM_016032.4(ZDHHC9):c.674+9C>TSNV Benign 537745 rs376385410 X:128947644-128947644 X:129813668-129813668
32 ZDHHC9 NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys)SNV Benign 737510 X:128940408-128940408 X:129806432-129806432
33 ZDHHC9 NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=)SNV Benign 738866 X:128962994-128962994 X:129829018-129829018
34 ZDHHC9 NM_016032.4(ZDHHC9):c.626-10A>TSNV Benign 537744 rs188156112 X:128947711-128947711 X:129813735-129813735
35 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 Intellectual Developmental Disorder, 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 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond...

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