MRSD
MCID: MNT252
MIFTS: 36

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (MRSD)

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

MalaCards integrated aliases for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

Name: Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 57 70
Christian Syndrome 57 73 58
Mental Retardation-Skeletal Dysplasia 57 13
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome 58
Christian Syndrome; Chrs 57
Zellweger Syndrome 70
Mrsd 57
Chrs 57

Characteristics:

Orphanet epidemiological data:

58
x-linked skeletal dysplasia-intellectual disability syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked (xq28-qter)


HPO:

31
mental retardation, skeletal dysplasia, and abducens palsy:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 309620
ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA1436
MedGen 41 C1839729
UMLS 70 C0043459 C1839729

Summaries for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

MalaCards based summary : Mental Retardation, Skeletal Dysplasia, and Abducens Palsy, also known as christian syndrome, is related to x-linked skeletal dysplasia-intellectual disability syndrome and nodular nonsuppurative panniculitis, and has symptoms including seizures An important gene associated with Mental Retardation, Skeletal Dysplasia, and Abducens Palsy is MRSD (Mental Retardation-Skeletal Dysplasia). The drugs Ponatinib and Blinatumomab have been mentioned in the context of this disorder. Affiliated tissues include myeloid, liver and bone, and related phenotypes are scoliosis and short stature

Wikipedia : 73 Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing... more...

More information from OMIM: 309620

Related Diseases for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Graphical network of the top 20 diseases related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:



Diseases related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Symptoms & Phenotypes for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Human phenotypes related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 Very frequent (99-80%) HP:0002650
2 short stature 58 31 Very frequent (99-80%) HP:0004322
3 anal atresia 58 31 Occasional (29-5%) HP:0002023
4 fused cervical vertebrae 58 31 Very frequent (99-80%) HP:0002949
5 short middle phalanx of finger 58 31 Very frequent (99-80%) HP:0005819
6 thoracic hemivertebrae 58 31 Very frequent (99-80%) HP:0008467
7 intellectual disability 31 HP:0001249
8 skeletal dysplasia 31 HP:0002652
9 type ii diabetes mellitus 58 Frequent (79-30%)
10 wide nasal bridge 31 HP:0000431
11 glucose intolerance 31 HP:0001952
12 brachydactyly 58 Very frequent (99-80%)
13 abnormal sacrum morphology 58 Very frequent (99-80%)
14 prominent metopic ridge 31 HP:0005487
15 abducens palsy 31 HP:0011349
16 cranial nerve vi palsy 31 HP:0006897

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
scoliosis
fused cervical vertebrae
thoracic hemivertebrae
ridging of metopic suture
sacral hypoplasia

Endo:
glucose intolerance

Nose:
broad nasal bridge

Limbs:
short middle phalanges

Growth:
short stature

Neuro:
abducens palsy
cranial nerve vi palsy
mental-retardation

G I:
imperforate anus

Clinical features from OMIM®:

309620 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:


seizures

Drugs & Therapeutics for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Drugs for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799
2
Blinatumomab Approved, Investigational Phase 3 853426-35-4
3 Acidophilus Phase 3
4 Bifidobacterium Phase 3
5 Liver Extracts Phase 3
6 Protein Kinase Inhibitors Phase 3
7 Imatinib Mesylate Phase 3 220127-57-1 123596
8 Antibodies Phase 3
9 Immunoglobulins Phase 3
10 Antibodies, Monoclonal Phase 3
11
Hydroxychloroquine Approved Phase 2 118-42-3 3652
12
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
13
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16
alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Busulfan Approved, Investigational Phase 2 55-98-1 2478
18
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
19
Tocopherol Approved, Investigational Phase 2 1406-66-2
20
rituximab Approved Phase 2 174722-31-7 10201696
21
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
22
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
23
tannic acid Approved Phase 2 1401-55-4
24
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
25
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
26
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
28 Tocotrienol Investigational Phase 2 6829-55-6
29
Tosedostat Investigational Phase 1, Phase 2 238750-77-1
30 Antimalarials Phase 2
31 Antirheumatic Agents Phase 2
32 Antiparasitic Agents Phase 2
33 Antiprotozoal Agents Phase 2
34 Anti-Infective Agents Phase 2
35 Neurotransmitter Agents Phase 1, Phase 2
36 Antimetabolites Phase 2
37 Alpha-lipoic Acid Phase 2
38 Vitamins Phase 2
39 Tocopherols Phase 2
40 Tocotrienols Phase 2
41 Antilymphocyte Serum Phase 2
42 N-monoacetylcystine Phase 2
43 Thioctic Acid Phase 2
44
Homoharringtonine Phase 2 285033
45
Erlotinib Hydrochloride Phase 1, Phase 2 183319-69-9 176871
46
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
47 Albumin-Bound Paclitaxel Phase 1
48 Histone Deacetylase Inhibitors Phase 1
49
Ethanol Approved 64-17-5 702
50 Strawberry Approved

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Study to Investigate the Potential of Probiotics in Yogurt Completed NCT00492583 Phase 3 Bifidobacterium lactis (BB-12);Placebo
2 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
3 Newly Diagnosed Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia (Ph+ ALL). Sequential Treatment With Ponatinib and the Bispecific Monoclonal Antibody Blinatumomab vs Chemotherapy and Imatinib Not yet recruiting NCT04722848 Phase 3 Ponatinib + Blinatumomab;Chemotherapy + Imatinib
4 Prevention of Febrile Neutropenia in Pediatric Cancer Patients by Lactobacillus Rhamnosus GG and Bifidobacterium Animalis Subspecies. Lactis BB-12 in Combination With Inulin and Oligofructose Unknown status NCT02544685 Phase 2
5 Hydroxychloroquine Administration for Reduction of Pexophagy Completed NCT03856866 Phase 2 Hydroxychloroquine;Placebo
6 A Phase I-II Study to Evaluate the Safety, Tolerability and Anti-Disease Activity of the Aminopeptidase Inhibitor, CHR-2797, in Elderly and/or Treatment Refractory Patients With Acute Myeloid Leukemia or Multiple Myeloma Completed NCT00689000 Phase 1, Phase 2 CHR-2797 (tosedostat): Aminopeptidase inhibitor
7 The OPAL Study: A Phase II Study to Evaluate the Efficacy, Safety and Tolerability of Tosedostat (CHR-2797) in Elderly Subjects With Treatment Refractory or Relapsed Acute Myeloid Leukemia Completed NCT00780598 Phase 2 Tosedostat
8 OPEN LABEL PHASE 2 STUDY ON THE EFFICACY AND TOLERANCE OF A COMBINATION OF PONATINIB AND 5-AZACITIDINE IN CHRONIC MYELOGENOUS LEUKAEMIA IN ACCELERATED PHASE OR IN MYELOID BLAST CRISIS - PONAZA TRIAL Recruiting NCT03895671 Phase 2 Ponatinib;Azacitidine
9 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
10 D-ALBA Front-Line Sequential Treatment of Adult Philadelphia Chromosome Positive (Ph+) Acute Lymphoblastic Leukemia (ALL) Patients With Dasatinib and the Bispecific Monoclonal Antibody Blinatumomab Recruiting NCT02744768 Phase 2 Dasatinib;Blinatumomab
11 A Phase II Open-Label Study of the Intravenous Administration of Homoharringtonine (CGX-635) Combined With the Oral Administration of Gleevec in the Treatment of Patients With Chronic Myeloid Leukemia (CML) in Chronic, Accelerated, and Blast Phase Terminated NCT00114959 Phase 2 Homoharringtonine;Imatinib Mesylate
12 A Phase I-II, Multicenter, Open-label Trial of Co-administered CHR-2797 and Erlotinib in Patients With Locally Advanced or Metastatic Non-small Cell Lung Cancer Terminated NCT00522938 Phase 1, Phase 2 CHR-2797 (tosedostat);erlotinib
13 Phase I Protocol of Adoptive Immunotherapy With Enriched and Expanded Autologous Natural Killer (NK) Cells for Patients With Ph+ Acute Lymphoblastic Leukemia (ALL) in Complete Hematologic Remission (CHR) But With Persistent/Recurrent Minimal Residual Disease (MRD) ≥60 Years or Not Eligible for Other Post-CHR Treatment Modalities Unknown status NCT02185781 Phase 1
14 An Open-label, Randomized, Two-way Crossover Trial of the Effect of a High-Fat Meal on the Pharmacokinetics of Oral Tosedostat (CHR 2797) in Healthy Male Subjects Unknown status NCT01638442 Phase 1 CHR-2797;CHR-2797
15 Evaluation of Safety, Tolerance and Pharmacokinetics/Pharmacodynamics of SY-009 Capsules After Single Dose Incremental Oral Administration in Healthy Subjects Completed NCT04119947 Phase 1 SY-009
16 A Phase 1b Dose-escalation Study to Evaluate the Safety and Tolerability of the Addition of the Aminopeptidase Inhibitor CHR-2797 to Paclitaxel in Patients With Advanced or Refractory Tumours Completed NCT00737555 Phase 1 CHR-2797
17 A Phase I Study to Evaluate the Safety and Tolerability of the Histone Deacetylase Inhibitor, CHR-3996, in Patients With Advanced Solid Tumours Completed NCT00697879 Phase 1 CHR-3996
18 A Phase I Study to Evaluate the Safety and Tolerability of the Histone Deacetylase Inhibitor, CHR-2845, in Patients With Advanced or Treatment Refractory Haematological Diseases or Lymphoid Malignancies Completed NCT00820508 Phase 1 CHR-2845
19 A Phase I Study to Evaluate the Safety and Tolerability, of the Aminopeptidase Inhibitor, CHR-2797, in Patients With Advanced Tumours Completed NCT00692354 Phase 1 CHR-2797 (tosedostat)
20 Phase I Clinical Study to Evaluate Safety, Tolerance and Pharmacokinetics of SY-005 After Single-dose/Multiple-doses Incremental Intravenous Injection in Healthy Subjects Recruiting NCT04217629 Phase 1 SY-005
21 A Phase 1 Double-blind, Randomised, Placebo-controlled, Dose Escalating Study to Assess the Safety and Tolerability of Single and Multiple Oral Doses of CHR-5154 and the Effect of the Fasted and Fed State on Pharmacokinetics of CHR-5154 and CHR-5426 in Healthy Male Volunteers Terminated NCT01934101 Phase 1 CHR-5154;Placebo
22 Optimizing Cognitive Training to Improve Functional Outcome in Clinical High Risk (CHR) Unknown status NCT02404194
23 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
24 A Home-based Educational Intervention Improves Patient Activation Measures and Diabetes Health Indicators Among Zuni Indians Completed NCT02339311
25 The Clinical and Economic Impacts of e-Heath on Diabetes Completed NCT01595269
26 Reducing Health Disparity in Chronic Kidney Disease in Zuni Indians Completed NCT02915029
27 Nutrition Support for Immune Recovery Completed NCT02053506
28 A Single-Center Exploratory Study to Evaluate the Effects of the Probiotics L. Rhamnosus GR-1 and L. Reuteri RC-14 on Subjects With Intermediate Nugent Scores Completed NCT02139839 Early Phase 1 Placebo gelatin pill
29 Descriptive Study of Biological Stress and Perceived Stress in Call Regulation Operators and Doctors When Processing a Call at the Center 15 Completed NCT02075424
30 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
31 Family-Focused Therapy for Individuals at High Clinical Risk for Psychosis: A Confirmatory Efficacy Trial Not yet recruiting NCT04338152
32 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol
33 Comparison Of The Embryoscope Time-Lapse System With Standard Embryo Culture at Center for Human Reproduction(CHR):an Open Label Randomized Clinical Trial Terminated NCT02246309
34 Help Overcoming Prodromal Experiences Through Early Assessment & Management - Clinical High Risk Group CBSST Withdrawn NCT03738046

Search NIH Clinical Center for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Genetic Tests for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Anatomical Context for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

MalaCards organs/tissues related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

40
Myeloid, Liver, Bone, Nk Cells, Pancreas, Lung, Retina

Publications for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Articles related to Mental Retardation, Skeletal Dysplasia, and Abducens Palsy:

(show top 50) (show all 195)
# Title Authors PMID Year
1
Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter. 57
3469136 1987
2
X-linked skeletal dysplasia with mental retardation. 57
837562 1977
3
Narrowband ultraviolet B light in Langerhans cell histiocytosis: a case report. 61
24224945 2014
4
Eosinophilic granuloma: resolution of lesion after biopsy. 61
22134295 2011
5
[Observation of Pfeiffer-Weber-Christian syndrome, simulating sepsis]. 61
21789991 2011
6
Alpha-1-antitrypsin deficiency panniculitis. 61
18793976 2008
7
[Pfeifer-Weber-Christian syndrome associated with Kikuchi syndrome in infliximab therapy: development of necrotizing allergic vasculitis]. 61
17994203 2007
8
Langerhans cells histiocytosis in one family. 61
15205093 2004
9
[Successful treatment of Weber-Christian panniculitis with cyclosporin-A]. 61
15188638 2004
10
[5- year old boy with Weber-Christian Syndrome or histiocytic cytophagic panniculitis? Diagnostic difficulties. Case presentation]. 61
15738595 2004
11
Solitary eosinophilic granuloma of the third metacarpal at pediatric age. 61
14578028 2003
12
Maxillofacial manifestations of Langerhans cell histiocytosis: a clinical and therapeutic analysis of 10 patients. 61
12907208 2003
13
[Weber Christian syndrome due to pancreaticomesenteric fistula secondary to acute alcoholic pancreatitis: treatment with pancreatic sphincterotomy alone]. 61
12910236 2003
14
[Oral manifestations of Lpngerhans' cell histiocytosis. Therapeutic strategies involving oral and maxillofacial surgery]. 61
10414115 1999
15
Weber-Christian syndrome revealing intraductal papillary mucinous tumor of the pancreas. 61
10206492 1999
16
[Weber-Christian syndrome and intraductal papillary mucinous tumor of the pancreas]. 61
10353028 1999
17
[A case of Pfeifer-Weber-Christian syndrome]. 61
10635659 1999
18
[Bone localization of Weber-Christian syndrome associated with chronic pancreatitis developing bone metastasis of pancreatic adenocarcinoma]. 61
9791569 1998
19
Panniculitis due to potassium bromide. 61
9545177 1998
20
[Endoscopic treatment of subcutaneous fat necrosis secondary to pancreatic-vascular fistula: apropos of a case]. 61
9775127 1998
21
[Hand-Schüller-Christian syndrome]. 61
9851166 1998
22
Weber-Christian syndrome after endoscopic retrograde pancreatography. 61
9362213 1997
23
Imaging of Hand-Schüller-Christian syndrome by a monoclonal antibody. 61
9363388 1997
24
Langerhans cell histiocytosis, diabetes insipidus, hyperprolactinemia and empty sella: a four-fold association. Report of two cases. 61
8851691 1996
25
[Acinar cell carcinoma of the pancreas revealed by Weber-Christian syndrome]. 61
8720840 1995
26
[Langerhans-cell histiocytosis in twin sisters]. 61
8087220 1994
27
[Pancreatic-portal fistula. A rare complication of chronic pancreatitis]. 61
7750688 1994
28
[Weber-Christian syndrome in pancreatic diseases]. 61
7750680 1994
29
Aural symptoms as primary presentation of Langerhan's cell histiocytosis. 61
8877194 1993
30
[Panniculitis in children]. 61
1416663 1992
31
Overdose of vinblastine in a child with Langerhans' cell histiocytosis: toxicity and salvage therapy. 61
1863542 1991
32
Corticosteroid-sparing effect of hydroxychloroquine in a patient with early-onset Weber-Christian syndrome. 61
2273126 1990
33
[Primary multinodular panniculitis or fat necrosis in children]. 61
2740187 1989
34
[Histiocytosis syndrome in children]. 61
2783792 1989
35
[A case of eosinophilic granuloma and its development to Hand-Schüller-Christian syndrome]. 61
3268968 1988
36
Eosinophilic granuloma of bone. 61
3292033 1988
37
Xanthoma disseminatum. An unusual histiocytosis syndrome. 61
3140686 1988
38
[Weber-Christian syndrome and pancreatic involvement. Apropos of a case with review of the literature]. 61
3540296 1986
39
[Hand-Schüller-Christian syndrome arising in the mandible. A case report]. 61
3736975 1986
40
Ten-year course of early-onset Weber-Christian syndrome with recurrent pneumonia: a suggestion for pathogenesis. 61
3725481 1986
41
[Histiocytosis X. 2 cases of the Hand-Schueller-Christian syndrome]. 61
4090694 1985
42
[Multiple endocrine disorders in histiocytosis-X (Hand-Schueller-Christian syndrome)]. 61
3999660 1985
43
Fatal panniculitis. 61
3989012 1985
44
[Histiocytosis X. 3 different cases: eosinophilic granuloma, Hand-Schueller-Christian disease, Abt-Letterer-Siwe disease]. 61
3842238 1985
45
[Weber-Christian syndrome]. 61
6385167 1984
46
[Weber-Christian syndrome. Description of a case with unusual onset and localization]. 61
6729202 1984
47
[Disseminated histiocytosis X]. 61
6609004 1984
48
[Amyloidosis, Gaucher's disease, Hand-Schueller-Christian syndrome. Clinicodiagnostic viewpoint of metabolic diseases of the reticulohistiocytary system]. 61
6645906 1983
49
[Visceral necrotic granulomatous panniculitis and its possible localization in the skeleton and in the hematopoietic tissues, associated with pancytopenia. Relation to the Weber-Christian syndrome]. 61
6835585 1983
50
[Xanthomatosis palpebro-cerebralis--clinical variants of the Hand-Schüller-Christian syndrome]. 61
6642370 1983

Variations for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Expression for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Search GEO for disease gene expression data for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy.

Pathways for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

GO Terms for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

Sources for Mental Retardation, Skeletal Dysplasia, and Abducens Palsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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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-Apr-2021)
61 PubMed
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71 UMLS via Orphanet
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