MRSS
MCID: SYN092
MIFTS: 28

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. The drugs Midazolam and Tramadol have been mentioned in the context of this disorder. Affiliated tissues include skin and testes.

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 30)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 29.5 TOP1 COL1A2 COL1A1 CCN2
2 mental retardation, x-linked, syndromic, cabezas type 11.5
3 mental retardation, x-linked, syndromic, chudley-schwartz type 11.5
4 gastric antral vascular ectasia 10.3 TOP1 OXCT1
5 ehlers-danlos/osteogenesis imperfecta syndrome 10.1 COL1A2 COL1A1
6 col1a1/2 osteogenesis imperfecta 10.1 COL1A2 COL1A1
7 high bone mass osteogenesis imperfecta 10.1 COL1A2 COL1A1
8 larsen-like syndrome 10.1 COL1A2 COL1A1
9 ehlers-danlos syndrome, arthrochalasia type, 2 10.1 COL1A2 COL1A1
10 type i ehlers-danlos syndrome 10.1 COL1A2 COL1A1
11 arthrochalasia ehlers-danlos syndrome 10.0 COL1A2 COL1A1
12 facial hemiatrophy 10.0 SNRNP70 EXOSC10
13 classic ehlers-danlos syndrome 10.0 COL1A2 COL1A1
14 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
15 osteogenesis imperfecta, type vi 10.0 COL1A2 COL1A1
16 ehlers-danlos syndrome, classic type, 1 10.0 COL1A2 COL1A1
17 x-linked alport syndrome 9.9 COL1A2 COL1A1
18 crest syndrome 9.9 TOP1 SNRNP70 EXOSC10
19 dyskinesia of esophagus 9.9 TOP1 SNRNP70 EXOSC10
20 raynaud disease 9.9 TOP1 SNRNP70 EXOSC10
21 telangiectasis 9.9 TOP1 SNRNP70 EXOSC10
22 collagen disease 9.9 SNRNP70 COL1A2 COL1A1
23 childhood type dermatomyositis 9.8 SNRNP70 EXOSC10
24 caffey disease 9.8 COL1A2 COL1A1
25 stiff skin syndrome 9.7 COL1A2 CCN2
26 bruck syndrome 9.6 COL1A2 COL1A1
27 connective tissue disease 9.1 TOP1 SNRNP70 COL1A2 COL1A1 CCN2
28 systemic scleroderma 9.1 TOP1 SNRNP70 EXOSC10 COL1A2 CCN2
29 limited scleroderma 8.8 TOP1 SNRNP70 RNU11 MS4A4A EXOSC10 CCN2
30 diffuse scleroderma 8.5 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

Drugs for Syndromic X-Linked Intellectual Disability Cabezas Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
3 Anesthetics Phase 4
4 Hypnotics and Sedatives Phase 4
5 Narcotics Phase 4
6 Anti-Anxiety Agents Phase 4
7 Psychotropic Drugs Phase 4
8 Analgesics Phase 4
9 GABA Modulators Phase 4
10 Analgesics, Opioid Phase 4
11 Anesthetics, General Phase 4
12 Anesthetics, Intravenous Phase 4
13 Neurotransmitter Agents Phase 4
14
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
15
Abatacept Approved Phase 2 332348-12-6 10237
16
Rilonacept Approved, Investigational Phase 1, Phase 2 501081-76-1 104924
17
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
20
Azathioprine Approved Phase 2 446-86-6 2265
21
belimumab Approved Phase 2 356547-88-1 10451420 5957
22
Lenograstim Approved, Investigational Phase 2 135968-09-1
23
carbamide peroxide Approved Phase 2 124-43-6
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
26
alemtuzumab Approved, Investigational Phase 2 216503-57-0
27
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
28
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
29
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
30
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
31 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
32
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
33 Antihypertensive Agents Phase 2
34 Immunosuppressive Agents Phase 2
35 Immunologic Factors Phase 2
36 Antirheumatic Agents Phase 2
37 Alkylating Agents Phase 2
38 Complement System Proteins Phase 2
39 Rho(D) Immune Globulin Phase 2
40 Immunoglobulins, Intravenous Phase 2
41 gamma-Globulins Phase 2
42 Anti-Inflammatory Agents Phase 2
43 Methylprednisolone Acetate Phase 2
44 Hormones Phase 2
45 Antineoplastic Agents, Hormonal Phase 2
46 Hormone Antagonists Phase 2
47 glucocorticoids Phase 2
48 Protein Kinase Inhibitors Phase 2
49 Imatinib Mesylate Phase 2 220127-57-1 123596
50
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Effects of Midazolam or Tramadol Premedication on Early Cognitive Function in ERCP: a Randomized Controlled Double-Blind Study Completed NCT02436980 Phase 4 Tramadol;Midazolam
2 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
3 A Phase 2 Study to Evaluate Subcutaneous Abatacept vs. Placebo in Diffuse Cutaneous Systemic Sclerosis- a Double-blind, Placebo-controlled, Randomized Controlled Trial. Completed NCT02161406 Phase 2 Abatacept;Placebo
4 A Randomized, Double-Blind, Placebo-Controlled Trial of Topical C-82 in Systemic Sclerosis - A Phase I/II Biomarker and Safety Trial Completed NCT02349009 Phase 1, Phase 2 C-82 Topical Gel, 1%;C-82 Topical Gel, Placebo
5 Multicenter Phase II Trial of Oral Type I Bovine Collagen in Scleroderma Completed NCT00005675 Phase 2 Oral bovine type I collagen;Placebo
6 Double-blind, Randomized, 8-week Placebo-controlled, and 16-week Open-label Extension Study Investigating the Safety, Pharmacokinetics and Pharmacodynamics of SAR100842 Given Orally to Patients With Diffuse Cutaneous Systemic Sclerosis Completed NCT01651143 Phase 2 SAR100842;Placebo (for SAR100842)
7 Randomized, Double-Blind, Placebo-Controlled Trial if IL1-TRAP, Rilonacept, in Systemic Sclerosis -A Phase I/II Biomarker Trial Completed NCT01538719 Phase 1, Phase 2 Rilonacept
8 Belimumab for the Treatment of Diffuse Cutaneous Systemic Sclerosis: A Phase 2a, Single-centered, Randomized, Placebo-controlled, Double-blind, Proof-of-concept Pilot Study. Completed NCT01670565 Phase 2 Belimumab
9 A Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Completed NCT02663895 Phase 2 Oral treprostinil
10 A Pilot Study of Adcetris Treatment in Active Diffuse Cutaneous Systemic Sclerosis (Diffuse Scleroderma) Recruiting NCT03198689 Phase 2 Brentuximab Vedotin
11 A Randomized, Double-Blind, Placebo-Controlled Study of Belimumab and Rituximab Combination Therapy for the Treatment of Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03844061 Phase 2 Belimumab;Rituximab;MMF
12 Autologous Stem Cell Transplantation With CD34-Selected Peripheral Blood Stem Cells (PBSC) in Patients With Treatment Resistant Systemic Sclerosis (SSc) Recruiting NCT03630211 Phase 2 Cyclophosphamide;Mesna;Rituximab;Alemtuzumab;Thiotepa;GM-CSF;Intravenous immunoglobulin
13 A Phase II Randomised Controlled Study of Oral Prednisolone in Early Diffuse Cutaneous Systemic Sclerosis Active, not recruiting NCT03708718 Phase 2 Prednisolone 5 mg;Placebo oral capsule
14 A Proof of Concept Trial of Gleevec (Imatinib) in Active Diffuse Scleroderma Terminated NCT01545427 Phase 2 Imatinib mesylate
15 Phase II Clinical Trial of Allogeneic Hematopoietic Cell Transplantation After Nonmyeloablative Conditioning for Patients With Severe Systemic Sclerosis Withdrawn NCT01047072 Phase 2 fludarabine phosphate;tacrolimus;mycophenolate mofetil;cyclophosphamide
16 Phase I, Open-label Study of Mycophenolate Mofetil In Systemic Sclerosis Completed NCT00433186 Phase 1 Mycophenolate Mofetil
17 Mepolizumab for the Treatment of Eosinophilic Fasciitis; An Open-Label, Single-Arm, Exploration Study Not yet recruiting NCT04305678 Phase 1 Mepolizumab
18 Impact of Education and Training of Modified Rodnan Skin Scoring on the Reliability of Test Unknown status NCT03219606
19 Optical Elastography of Systemic Sclerosis Skin Completed NCT02835196
20 The Effect of Ethanol Extract Physalis Angulata Linn. in Scleroderma Patients With Standard Therapy to Reduce Skin Fibrosis Based on Modified Rodnan Skin Score, Reduce Inflammation, Immunological Response and Fibrosis Completed NCT03141125
21 Mechanical Characterization of Healthy and Diseased Skin With Suction Based Assessment of Skin Deformability Completed NCT03644225
22 Randomized Single Blinded Clinical Trial on Effects of Nursery Songs in Infants and Young Children's Anxiety Prior and During Head CT Completed NCT02437214

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, Testes

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 9.13 HAPLN3 COL1A2 COL1A1
2 skin morphogenesis GO:0043589 8.62 COL1A2 COL1A1

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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