MRSS
MCID: SYN092
MIFTS: 25

Syndromic X-Linked Intellectual Disability Cabezas Type (MRSS)

Categories: Genetic diseases, 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 71
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 71
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 32 Q87.8
UMLS 71 C1845845 C1845861

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 scleroderma, familial progressive and mental retardation, x-linked, syndromic, cabezas type, and has symptoms including tremor and gait ataxia. An important gene associated with Syndromic X-Linked Intellectual Disability Cabezas Type is TOP1 (DNA Topoisomerase I), and among its related pathways/superpathways are Inflammatory Response Pathway and IL4-mediated signaling events. Affiliated tissues include skin.

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:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 29.2 TOP1 COL1A2 COL1A1 CCN2
2 mental retardation, x-linked, syndromic, cabezas type 11.2
3 gastric antral vascular ectasia 10.3 TOP1 OXCT1
4 facial hemiatrophy 10.1 SNRNP70 EXOSC10
5 splenic tuberculosis 10.1 SNRNP70 EXOSC10
6 ehlers-danlos/osteogenesis imperfecta syndrome 10.1 COL1A2 COL1A1
7 col1a1/2 osteogenesis imperfecta 10.1 COL1A2 COL1A1
8 crest syndrome 10.1 TOP1 SNRNP70 EXOSC10
9 dyskinesia of esophagus 10.1 TOP1 SNRNP70 EXOSC10
10 high bone mass osteogenesis imperfecta 10.1 COL1A2 COL1A1
11 raynaud disease 10.1 TOP1 SNRNP70 EXOSC10
12 larsen-like syndrome 10.1 COL1A2 COL1A1
13 telangiectasis 10.0 TOP1 SNRNP70 EXOSC10
14 arthrochalasia ehlers-danlos syndrome 10.0 COL1A2 COL1A1
15 fibrogenesis imperfecta ossium 10.0 COL1A2 COL1A1
16 childhood type dermatomyositis 10.0 SNRNP70 EXOSC10
17 ehlers-danlos syndrome, arthrochalasia type, 2 10.0 COL1A2 COL1A1
18 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
19 ehlers-danlos syndrome, cardiac valvular type 10.0 COL1A2 COL1A1
20 classic ehlers-danlos syndrome 10.0 COL1A2 COL1A1
21 osteogenesis imperfecta, type vii 10.0 COL1A2 COL1A1
22 x-linked alport syndrome 10.0 COL1A2 COL1A1
23 fibrosis of extraocular muscles, congenital, 1 10.0
24 osteogenesis imperfecta, type ix 10.0 COL1A2 COL1A1
25 collagen disease 9.9 SNRNP70 COL1A2 COL1A1
26 bruck syndrome 9.9 COL1A2 COL1A1
27 ehlers-danlos syndrome, classic type, 1 9.8 COL1A2 COL1A1
28 stiff skin syndrome 9.8 COL1A2 CCN2
29 caffey disease 9.7 COL1A2 COL1A1
30 systemic scleroderma 9.5 TOP1 SNRNP70 EXOSC10 COL1A2 CCN2
31 connective tissue disease 9.3 TOP1 SNRNP70 COL1A2 COL1A1 CCN2
32 limited scleroderma 9.2 TOP1 SNRNP70 RNU11 OXCT1 MS4A4A EXOSC10
33 diffuse scleroderma 9.0 TOP1 SNRNP70 OXCT1 EXOSC10 COL1A2 COL1A1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Education and Training of Modified Rodnan Skin Scoring on the Reliability of Test Unknown status NCT03219606
2 Optical Elastography of Systemic Sclerosis Skin Completed NCT02835196

Search 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

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability Cabezas Type:

40
Skin

Publications for Syndromic X-Linked Intellectual Disability Cabezas Type

Articles related to Syndromic X-Linked Intellectual Disability Cabezas Type:

# Title Authors PMID Year
1
[2 cases of Lowe syndrome]. 61
14974240 2002

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

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

# Super pathways Score Top Affiliating Genes
1 10.67 COL1A2 COL1A1
2 10.6 IL13RA1 COL1A2 COL1A1
3 10.32 COL1A2 COL1A1

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 extracellular matrix GO:0031012 9.26 HAPLN3 COL1A2 COL1A1 CCN2
2 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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 skeletal system development GO:0001501 9.33 HAPLN3 COL1A2 COL1A1
2 skin morphogenesis GO:0043589 8.96 COL1A2 COL1A1
3 regulation of ATPase activity GO:0043462 8.62 TNNC1 SNRNP70

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Syndromic X-Linked Intellectual Disability Cabezas Type

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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