MRSS
MCID: SYN092
MIFTS: 24

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). The drugs Tramadol and Midazolam 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

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 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3 Tranquilizing Agents Phase 4
4 Anti-Anxiety Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Hypnotics and Sedatives Phase 4
7 Narcotics Phase 4
8 Anesthetics Phase 4
9 Adjuvants, Anesthesia Phase 4
10 Psychotropic Drugs Phase 4
11 GABA Agents Phase 4
12 Anesthetics, General Phase 4
13 Analgesics, Opioid Phase 4
14 GABA Modulators Phase 4
15 Central Nervous System Depressants Phase 4
16 Anesthetics, Intravenous Phase 4
17 Analgesics Phase 4
18
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
19
Abatacept Approved Phase 2 332348-12-6 10237
20
Rilonacept Approved, Investigational Phase 1, Phase 2 501081-76-1 104924
21
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
22
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
23
Azathioprine Approved Phase 2 446-86-6 2265
24
belimumab Approved Phase 2 356547-88-1 5957 10451420
25
Lenograstim Approved, Investigational Phase 2 135968-09-1
26
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
27
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
28
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
29 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
30
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
31
carbamide peroxide Approved Phase 2 124-43-6
32
alemtuzumab Approved, Investigational Phase 2 216503-57-0
33
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
34
Mesna Approved, Investigational Phase 2 3375-50-6 598
35
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
36
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
37 Antirheumatic Agents Phase 2
38 Immunosuppressive Agents Phase 2
39 Immunologic Factors Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Alkylating Agents Phase 2
42 Antiemetics Phase 2
43 Gastrointestinal Agents Phase 2
44 Methylprednisolone Acetate Phase 2
45 Hormone Antagonists Phase 2
46 Neuroprotective Agents Phase 2
47 Protective Agents Phase 2
48 Autonomic Agents Phase 2
49 Antineoplastic Agents, Hormonal Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show all 20)
# 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 of Adcetris Treatment in Active Diffuse Cutaneous Systemic Sclerosis (Diffuse Scleroderma) Recruiting NCT03198689 Phase 2 Brentuximab Vedotin
10 A Phase II Randomised Controlled Study of Oral Prednisolone in Early Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03708718 Phase 2 Prednisolone 5 mg;Placebo oral capsule
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 Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Active, not recruiting NCT02663895 Phase 2 Oral treprostinil
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 Impact of Education and Training of Modified Rodnan Skin Scoring on the Reliability of Test Unknown status NCT03219606
18 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
19 Mechanical Characterization of Healthy and Diseased Skin With Suction Based Assessment of Skin Deformability Completed NCT03644225
20 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

GO Terms for Syndromic X-Linked Intellectual Disability Cabezas Type

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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