MRXS9
MCID: MNT197
MIFTS: 18

Mental Retardation, X-Linked, Syndromic 9 (MRXS9)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 9

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 9:

Name: Mental Retardation, X-Linked, Syndromic 9 57 12 13 70
Mrxs9 57 12 58
Syndromic X-Linked Intellectual Disability Shrimpton Type 12
X-Linked Intellectual Disability, Shrimpton Type 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, shrimpton type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060813
OMIM® 57 300709
OMIM Phenotypic Series 57 PS309510
ICD10 32 Q87.8
ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA85324
MedGen 41 C2678039
UMLS 70 C2678039

Summaries for Mental Retardation, X-Linked, Syndromic 9

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has material basis in variation in the chromosomal region Xq12-q21.31.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 9, also known as mrxs9, is related to microcephaly and renpenning syndrome 1. Related phenotypes are microcephaly and short stature

More information from OMIM: 300709 PS309510

Related Diseases for Mental Retardation, X-Linked, Syndromic 9

Diseases in the Mental Retardation, X-Linked, Syndromic 13 family:

Mental Retardation, X-Linked, Syndromic 9 Mental Retardation, X-Linked, Syndromic 17
Mental Retardation, X-Linked, Syndromic 32 Mental Retardation, X-Linked, Syndromic 33
Mental Retardation, X-Linked, Syndromic 34 Mental Retardation, X-Linked, Syndromic, 35

Diseases related to Mental Retardation, X-Linked, Syndromic 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.1
2 renpenning syndrome 1 9.9

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 9

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 9:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
4 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
5 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
6 intellectual disability 31 HP:0001249

Clinical features from OMIM®:

300709 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 9

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 9

Genetic Tests for Mental Retardation, X-Linked, Syndromic 9

Anatomical Context for Mental Retardation, X-Linked, Syndromic 9

Publications for Mental Retardation, X-Linked, Syndromic 9

Articles related to Mental Retardation, X-Linked, Syndromic 9:

# Title Authors PMID Year
1
Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31. 57 61
10797443 2000
2
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. 61 57
10331611 1999

Variations for Mental Retardation, X-Linked, Syndromic 9

Expression for Mental Retardation, X-Linked, Syndromic 9

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 9.

Pathways for Mental Retardation, X-Linked, Syndromic 9

GO Terms for Mental Retardation, X-Linked, Syndromic 9

Sources for Mental Retardation, X-Linked, Syndromic 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....