MCID: SYN092
MIFTS: 20

Syndromic X-Linked Intellectual Disability Cabezas Type

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability Cabezas Type

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Cabezas Type:

Name: Syndromic X-Linked Intellectual Disability Cabezas Type 12 15
Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait 73
X-Linked Mental Retardation with Short Stature, Hypogonadism, and Abnormal Gait 12
Cabezas Syndrome; Syndromic X-Linked Mental Retardation 15 12
Mental Retardation, X-Linked, with Short Stature 73
X-Linked Mental Retardation with Short Stature 12
Mental Retardation, X-Linked, Syndromic 15 12
Mrxs15 12
Mrxsc 12
Mrss 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060822
ICD10 33 Q87.8

Summaries for Syndromic X-Linked Intellectual Disability Cabezas Type

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has material basis in mutation in the CUL4B gene on chromosome Xq23.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Cabezas Type, also known as mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, is related to mental retardation, x-linked, syndromic, cabezas type and mental retardation, x-linked, syndromic, chudley-schwartz type, and has symptoms including tremor and gait ataxia. An important gene associated with Syndromic X-Linked Intellectual Disability Cabezas Type is HAPLN3 (Hyaluronan And Proteoglycan Link Protein 3).

Related Diseases for Syndromic X-Linked Intellectual Disability Cabezas Type

Diseases related to Syndromic X-Linked Intellectual Disability Cabezas Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, cabezas type 11.1
2 mental retardation, x-linked, syndromic, chudley-schwartz type 11.1
3 transverse colon cancer 9.3 DSC2 DSC3
4 subcorneal pustular dermatosis 9.2 DSC2 DSC3
5 paraneoplastic pemphigus 9.0 DSC2 DSC3

Graphical network of the top 20 diseases related to Syndromic X-Linked Intellectual Disability Cabezas Type:



Diseases related to Syndromic X-Linked Intellectual Disability Cabezas Type

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability Cabezas Type

UMLS symptoms related to Syndromic X-Linked Intellectual Disability Cabezas Type:


tremor, gait ataxia

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability Cabezas Type

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability Cabezas Type

Genetic Tests for Syndromic X-Linked Intellectual Disability Cabezas Type

Anatomical Context for Syndromic X-Linked Intellectual Disability Cabezas Type

Publications for Syndromic X-Linked Intellectual Disability Cabezas Type

Variations for Syndromic X-Linked Intellectual Disability Cabezas Type

Expression for Syndromic X-Linked Intellectual Disability Cabezas Type

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability Cabezas Type.

Pathways for Syndromic X-Linked Intellectual Disability Cabezas Type

GO Terms for Syndromic X-Linked Intellectual Disability Cabezas Type

Cellular components related to Syndromic X-Linked Intellectual Disability Cabezas Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.96 DSC2 DSC3
2 desmosome GO:0030057 8.62 DSC2 DSC3

Biological processes related to Syndromic X-Linked Intellectual Disability Cabezas Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.16 DSC2 DSC3
2 cornification GO:0070268 8.96 DSC2 DSC3
3 cell adhesion GO:0007155 8.92 DSC2 DSC3 HAPLN3 SIGLEC1

Sources for Syndromic X-Linked Intellectual Disability Cabezas Type

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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