MCID: MNT197
MIFTS: 18

Mental Retardation, X-Linked, Syndromic 9

Categories: Neuronal diseases, Rare diseases, Mental diseases, Genetic diseases, Fetal diseases, Eye diseases, Cardiovascular diseases, Bone 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 73
Mrxs9 57 12 59
Syndromic X-Linked Intellectual Disability Shrimpton Type 12
X-Linked Intellectual Disability, Shrimpton Type 59

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability, shrimpton type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300709
Disease Ontology 12 DOID:0060813
ICD10 33 Q87.8
Orphanet 59 ORPHA85324
ICD10 via Orphanet 34 Q87.8
MedGen 42 C2678039
UMLS 73 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. An important gene associated with Mental Retardation, X-Linked, Syndromic 9 is RENS2 (Renpenning Syndrome 2). Related phenotypes are microcephaly and short stature

Description from OMIM: 300709

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

Diseases in the Mental Retardation, X-Linked, Syndromic, 35 family:

Mental Retardation, X-Linked, Syndromic 13 Mental Retardation, X-Linked, Syndromic, Wu Type
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

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

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

Clinical features from OMIM:

300709

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

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
4 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
5 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
6 intellectual disability 32 HP:0001249

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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