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MCID: RGD003
MIFTS: 62

Rigid Spine Muscular Dystrophy 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Rigid Spine Muscular Dystrophy 1

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MalaCards integrated aliases for Rigid Spine Muscular Dystrophy 1:

Name: Rigid Spine Muscular Dystrophy 1 57 12 75 15
Rigid Spine Syndrome 57 12 53 59 75 55 44
Eichsfeld Type Congenital Muscular Dystrophy 12 29 6 73
Rsmd1 57 12 53 75
Mdrs1 57 12 53 75
Rss 57 12 53 75
Desmin-Related Myopathy with Mallory Bodies 57 12 75
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 75
Desmin-Related Myopathy with Mallory Body-Like Inclusions 12 59
Multiminicore Disease, Severe Classic Form 57 53
Multicore Myopathy, Severe Classic Form 57 53
Minicore Myopathy, Severe Classic Form 57 53
Early-Onset Desmin-Related Myopathy 12 59
Muscular Dystrophy, Rigid Spine, 1 57 13
Classic Multiminicore Myopathy 12 59
Classic Multiminicore Disease 12 59
Sepn1-Related Myopathy 12 75
Classic Mmd 12 59
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity; Mdrs1 57
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity 57
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 53
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 75
Muscular Dystrophy, Congenital, Eichsfeld Type 57
Congenital Muscular Dystrophy with Rigid Spine 6
Desmin-Related Myopathies with Mallory Bodies 53
Congenital Muscular Dystrophy Eichsfeld Type 75
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 59
Multiminicore Disease Severe Classic Form 75
Dystrophy, Muscular, Rigid Spine, Type 1 40
Severe Classic Form Multicore Myopathy 12
Multicore Myopathy Severe Classic Form 75
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 75
Rigid Spine Muscular Dystrophy-1 53
Rigid Spine Syndrome; Rss 57
Myopathy, Sepn1-Related 57

Characteristics:

Orphanet epidemiological data:

59
desmin-related myopathy with mallory body-like inclusions
Inheritance: Autosomal recessive;
rigid spine syndrome
Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
nonprogressive or slowly progressive
cause of death usually due to respiratory failure before adulthood


HPO:

32
rigid spine muscular dystrophy 1:
Onset and clinical course infantile onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Rigid Spine Muscular Dystrophy 1

About this section
NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97244Disease definitionRigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.Visit the Orphanet disease page for more resources.

MalaCards based summary : Rigid Spine Muscular Dystrophy 1, also known as rigid spine syndrome, is related to reducing body myopathy and muscular dystrophy, congenital, lmna-related, and has symptoms including facial paresis and generalized muscle weakness. An important gene associated with Rigid Spine Muscular Dystrophy 1 is SELENON (Selenoprotein N), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Striated Muscle Contraction. The drugs Midazolam and Indinavir have been mentioned in the context of this disorder. Affiliated tissues include myeloid, testes and t cells, and related phenotypes are respiratory insufficiency and scoliosis

Disease Ontology : 12 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has material basis in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.

OMIM : 57 Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; 125660), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene (Ferreiro et al., 2004). For other forms of DRM, see primary desminopathy (601419). (602771)

UniProtKB/Swiss-Prot : 75 Rigid spine muscular dystrophy 1: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.

Sources

Related Diseases for Rigid Spine Muscular Dystrophy 1

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Diseases related to Rigid Spine Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 32.9 DMD FHL1 TTN
2 muscular dystrophy, congenital, lmna-related 30.3 COL6A2 FKBP14 LAMA2 TTN
3 muscular dystrophy 27.7 COL6A2 DMD DYSF FHL1 LAMA2 MDCMP
4 myopathy 27.3 ACTA1 COL6A2 DMD DYSF FHL1 FKBP14
5 silver-russell syndrome 12.2
6 robinow-sorauf syndrome 11.5
7 cardioneuromyopathy with hyaline masses and nemaline rods 10.9 DMD TTN
8 foot drop 10.8 ACTA1 FHL1
9 isolated hyperckemia 10.8 DMD LAMA2
10 localized lipodystrophy 10.8 DMD DYSF
11 cardiomyopathy, dilated, 1b 10.7 DMD LAMA2
12 myopathy, myofibrillar, 2 10.7 ACTA1 DMD MYH7
13 muscular dystrophy, congenital, 1b 10.7 DMD LAMA2
14 familial isolated dilated cardiomyopathy 10.7 DMD MYH7 TTN
15 intrinsic cardiomyopathy 10.7 DMD MYH7 TTN
16 scapuloperoneal myopathy 10.7 ACTA1 FHL1 MYH7
17 myopathy, x-linked, with excessive autophagy 10.7 DMD GAA LAMA2
18 multiminicore disease 10.6 RYR1 SELENON
19 creatine phosphokinase, elevated serum 10.6 DMD LAMA2
20 muscular dystrophy, limb-girdle, type 2h 10.6 DYSF TTN
21 muscular dystrophy, limb-girdle, type 2c 10.6 DMD DYSF
22 muscular dystrophy, limb-girdle, type 2f 10.6 DMD DYSF TTN
23 central core myopathy 10.6 MYH7 RYR1 SELENON
24 muscular dystrophy, limb-girdle, type 2b 10.6 DMD DYSF TTN
25 congenital structural myopathy 10.6 ACTA1 RYR1 SELENON
26 muscular dystrophy-dystroglycanopathy , type c, 5 10.6 DYSF LAMA2 TTN
27 muscular dystrophy, congenital merosin-deficient, 1a 10.5 DMD LAMA2
28 central core disease of muscle 10.5 GAA RYR1 SELENON
29 atrial standstill 1 10.5 DMD GAA MYH7 TTN
30 muscular dystrophy, becker type 10.5 DMD DYSF LAMA2
31 respiratory failure 10.5 GAA LAMA2 SELENON TTN
32 myositis 10.5 DMD DYSF TTN
33 centronuclear myopathy 10.4 DMD RYR1 TTN
34 ciliary dyskinesia, primary, 1 10.4 RSPH1 RSPH3 RSPH4A
35 pontocerebellar hypoplasia, type 2d 10.4 SECISBP2 SELENON
36 distal muscular dystrophy 10.4 DMD DYSF MYH7 TTN
37 myopathy, proximal, and ophthalmoplegia 10.4 COL6A2 RYR1
38 muscle disorders 10.4 COL6A2 RYR1 SELENON
39 ullrich congenital muscular dystrophy 1 10.4 COL6A2 FKBP14 LAMA2
40 myopathy, congenital, with fiber-type disproportion 10.4 ACTA1 MYH7 RYR1 SELENON
41 malignant hyperthermia 10.4 DMD LAMA2 RYR1
42 hypertrophic cardiomyopathy 10.3 DMD FHL1 MYH7 TTN
43 bethlem myopathy 1 10.3 COL6A2 DMD DYSF SELENON
44 brody myopathy 10.2 DMD RYR1
45 myopathy, myofibrillar, 1 10.2
46 left ventricular noncompaction 10.1 DMD MYH7 TTN
47 muscle tissue disease 10.1 DMD DYSF LAMA2 RYR1
48 myopathy, congenital 10.1 ACTA1 DMD MYH7 RYR1 SELENON
49 kartagener syndrome 10.0 RSPH1 RSPH3 RSPH4A
50 neuromuscular disease 10.0 DMD GAA LAMA2 RYR1 TTN

Graphical network of the top 20 diseases related to Rigid Spine Muscular Dystrophy 1:



Diseases related to Rigid Spine Muscular Dystrophy 1
Sources

Symptoms & Phenotypes for Rigid Spine Muscular Dystrophy 1

About this section

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Growth Height:
short stature

Muscle Soft Tissue:
poor head control
axial muscle weakness
hypotonia
muscle weakness, diffuse
generalized muscle atrophy
more
Head And Neck Neck:
limited neck flexion

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
facial weakness

Chest External Features:
flat thorax

Skeletal Spine:
scoliosis
spinal rigidity
limited flexion

Head And Neck Head:
poor head control

Respiratory:
reduced vital capacity
nocturnal hypoventilation
restrictive respiratory syndrome

Neurologic Central Nervous System:
delayed motor development

Skeletal:
joint contractures

Growth Weight:
low body weight

Voice:
nasal, high-pitched voice


Clinical features from OMIM:

602771

Human phenotypes related to Rigid Spine Muscular Dystrophy 1:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
2 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
4 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
5 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
6 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
7 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
8 spinal rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003306
9 hip contracture 59 32 frequent (33%) Frequent (79-30%) HP:0003273
10 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467
11 pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0002090
12 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
13 poor head control 59 32 frequent (33%) Frequent (79-30%) HP:0002421
14 abnormality on pulmonary function testing 59 32 frequent (33%) Frequent (79-30%) HP:0030878
15 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
16 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
17 hamstring contractures 59 32 frequent (33%) Frequent (79-30%) HP:0003089
18 cardiac conduction abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0031546
19 gowers sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003391
20 high palate 32 HP:0000218
21 muscular hypotonia 32 HP:0001252
22 failure to thrive 32 HP:0001508
23 facial palsy 32 HP:0010628
24 short stature 32 HP:0004322
25 flexion contracture 32 HP:0001371
26 generalized muscle weakness 32 HP:0003324
27 nasal speech 32 HP:0001611
28 high pitched voice 32 HP:0001620
29 motor delay 32 HP:0001270
30 muscular dystrophy 32 HP:0003560
31 restrictive deficit on pulmonary function testing 32 HP:0002111
32 generalized amyotrophy 32 HP:0003700
33 increased variability in muscle fiber diameter 32 HP:0003557
34 axial muscle weakness 32 HP:0003327
35 abnormality of skeletal morphology 59 Very frequent (99-80%)
36 reduced vital capacity 32 HP:0002792
37 limited neck flexion 32 HP:0005991
38 nocturnal hypoventilation 32 HP:0002877
39 abnormality of the rib cage 32 HP:0001547
40 type 1 and type 2 muscle fiber minicore regions 32 HP:0003787

UMLS symptoms related to Rigid Spine Muscular Dystrophy 1:


facial paresis, generalized muscle weakness

MGI Mouse Phenotypes related to Rigid Spine Muscular Dystrophy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 TTN ACTA1 COL6A2 DMD DYSF FHL1
2 growth/size/body region MP:0005378 10.03 FHL1 GAA LAMA2 RSPH1 RYR1 SECISBP2
3 cellular MP:0005384 10.02 ABCB7 CLIP1 DMD GAA LAMA2 PABPC1L
4 homeostasis/metabolism MP:0005376 9.93 ABCB7 ACTA1 DMD DYSF FHL1 GAA
5 muscle MP:0005369 9.65 ACTA1 DMD DYSF FHL1 GAA LAMA2
6 skeleton MP:0005390 9.23 ACTA1 DMD GAA LAMA2 RYR1 SECISBP2
Sources

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy 1

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Drugs for Rigid Spine Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 210)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
2
Indinavir Approved Phase 4 150378-17-9 5362440
3
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Zinc Approved, Investigational Phase 4 7440-66-6 23994
6
Nevirapine Approved Phase 4 129618-40-2 4463
7
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
10
Ticlopidine Approved Phase 4 55142-85-3 5472
11
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
12
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
13 tannic acid Approved, Nutraceutical Phase 4
14 Adjuvants, Anesthesia Phase 4,Phase 1
15 Anesthetics Phase 4,Phase 1,Not Applicable
16 Anesthetics, General Phase 4,Phase 1,Not Applicable
17 Anesthetics, Intravenous Phase 4,Phase 1,Not Applicable
18 Anti-Anxiety Agents Phase 4,Phase 1
19 Anti-HIV Agents Phase 4,Phase 1
20 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
21 Anti-Retroviral Agents Phase 4,Phase 1
22 Antiviral Agents Phase 4,Phase 2,Phase 1
23 Central Nervous System Depressants Phase 4,Phase 1,Not Applicable
24 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 1
25 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 1
26 GABA Agents Phase 4,Phase 1
27 GABA Modulators Phase 4,Phase 1
28 HIV Protease Inhibitors Phase 4,Phase 1
29 Hypnotics and Sedatives Phase 4,Phase 1,Not Applicable
30 Neurotransmitter Agents Phase 4,Phase 1
31
protease inhibitors Phase 4,Phase 1
32 Psychotropic Drugs Phase 4,Phase 1
33 Tranquilizing Agents Phase 4,Phase 1
34 Analgesics Phase 4,Phase 2,Phase 1,Not Applicable
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
36 Krestin Phase 4,Phase 2,Phase 1
37 Hypoglycemic Agents Phase 4
38 insulin Phase 4
39 Insulin, Globin Zinc Phase 4
40 Insulin, Long-Acting Phase 4
41 Insulin, Short-Acting Phase 4
42 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
43 Cytochrome P-450 CYP3A Inducers Phase 4,Not Applicable
44 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Not Applicable
45 Reverse Transcriptase Inhibitors Phase 4
46 Analgesics, Non-Narcotic Phase 4,Phase 2
47 Anti-Inflammatory Agents Phase 4,Phase 2
48 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2
49 Antipyretics Phase 4
50 Antirheumatic Agents Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Influence of the MDR1 Genotype on Blood Levels of Indinavir and Saquinavir in Healthy Volunteers Completed NCT00050180 Phase 4 Midazolam;Indinavir;Saquinavir
2 Tight Glycemic Control Increases Cardiac Stem Cells During Acute Myocardial Infarction Completed NCT00863629 Phase 4 Insulin
3 Differences in Blood Levels of Nevirapine in HIV-infected Patients in Uganda and the United States Completed NCT00054743 Phase 4
4 Effect of Genetics on Metabolism of Efavirenz Completed NCT00245986 Phase 4
5 Clinical Trial to Evaluate the Influence of Genotype on the Pharmacokinetics/Pharmacodynamics of Clopidogrel Completed NCT01503658 Phase 4 Clopidogrel+Aspirin
6 Metabolic Pattern of Cyclosporine A and Acute Renal Failure Completed NCT00264355 Phase 4 cyclosporine A
7 Calcineurin Activity in Renal Recipients Terminated NCT01413685 Phase 4
8 Validate Gene Expression and Proteomic Signatures Predictive of Treatment for Response for Breast Cancer Patient Unknown status NCT00669773 Phase 2 Adriamycin;Docetaxel
9 Study of Liposomal Annamycin in Patients With Refractory or Relapsed Acute Lymphocytic Leukemia Unknown status NCT00271063 Phase 1, Phase 2 Liposomal Annamycin
10 Antimetabolite Induction, High-Dose Alkylating Agent Consolidation and Retroviral Transduction of the MDR1 Gene Into Peripheral Blood Progenitor Cells Followed by Intensification Therapy With Sequential Paclitaxel and Doxorubicin for Stage 4 Breast Cancer Completed NCT00001493 Phase 2
11 Phase II Study to Evaluate Tariquidar (XR9576), a Selective MDR-1 Inhibitor, in Chemotherapy Resistant Advanced Breast Cancer Completed NCT00048633 Phase 2 Chemotherapy
12 TBTC Study 27/28 PK: Moxifloxacin Pharmacokinetics During TB Treatment Completed NCT00164463 Phase 2 Moxifloxacin;Isoniazid
13 Phase II Study of Ixabepilone in Metastatic Breast Cancer and Its Effects on the Ultrastructure of Neurons Completed NCT00627978 Phase 2 ixabepilone
14 Study to Assess Effectiveness of Giving Combination of Standard Chemotherapy Drugs Versus Combination of Standard Chemotherapy and New Drug Ixabepilone When Given Before Surgical Removal of Early Stage Breast Cancer Completed NCT00455533 Phase 2 Ixabepilone;Paclitaxel;Cyclophosphamide;Doxorubicin
15 A Study of Combination Chemotherapy and Surgical Resection in the Treatment of Adrenocortical Carcinoma: Continuous Infusion Doxorubicin, Vincristine and Etoposide With Daily Mitotane Before and After Surgical Resection Completed NCT00001339 Phase 2 doxorubicin, vincristine, and etoposide with mitotane
16 Gene Expression Profiles in Predicting Chemotherapy Response in Breast Cancer Completed NCT00212082 Phase 2 doxorubicin, docetaxel
17 Depsipeptide to Treat Patients With Cutaneous T-Cell Lymphoma and Peripheral T-Cell Lymphoma Completed NCT00007345 Phase 2 Romidepsin
18 Combination Chemotherapy and Rituximab in Treating Patients With Newly Diagnosed AIDS-Related B-Cell Non-Hodgkin's Lymphoma Completed NCT00389818 Phase 2 cyclophosphamide;pegylated liposomal doxorubicin hydrochloride;prednisone;vincristine sulfate
19 Biomarkers in Women Receiving Chemotherapy and Celecoxib for Stage II or Stage III Breast Cancer That Can Be Removed by Surgery Completed NCT00665457 Phase 2 capecitabine;celecoxib;cyclophosphamide;docetaxel;doxorubicin hydrochloride
20 Pharmacogenomically Selected Treatment for Gastric and Gastroesophageal Junction (GEJ) Tumors Completed NCT00515216 Phase 2 5-fluorouracil;Oxaliplatin;Leucovorin
21 Imatinib Mesylate in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia Who Have Received Chemotherapy Active, not recruiting NCT00509093 Phase 2 imatinib mesylate
22 Gemcitabine and Mitoxantrone in Treating Patients With Relapsed Acute Myeloid Leukemia Terminated NCT00268242 Phase 2 Gemcitabine Hydrochloride;Mitoxantrone Hydrochloride
23 A Phase II Trial of Induction Chemotherapy With ND-420, Cisplatin and Fluorouracil Followed by Surgery in the Treatment of Patients With Localized Squamous Cell Carcinoma of the Esophagus Terminated NCT02017600 Phase 2 ND-420;Cisplatin;fluorouracil
24 Role of CYP2B6, CYP3A4, and MDR1 in the Metabolic Clearance of Methadone Unknown status NCT00504413 Phase 1 midazolam(drug), digoxin (drug);Bupropion (drug);Methadone (drug)
25 Weekly Administration of (bi-)Daily Oral Docetaxel in Combination With Ritonavir Unknown status NCT01173913 Phase 1 ModraDoc001 10mg capsules;ModraDoc003 10mg tablets and ModraDoc004 10/50 mg;ModraDoc006 10 mg tablet
26 Kinetics of Fluvoxamine and Digoxin in Subjects With Different MDR1 Genotypes Completed NCT01704638 Phase 1 fluvoxamine;Digoxin
27 Dextromethorphan Effect on Central Sensitization to Pain in Healthy Volunteers Completed NCT02596360 Phase 1 Pulmodexane® 30mg;lactose
28 Phase I, Dosage-finding and PK Study of IV Topotecan and Erlotinib With Refractory Solid Tumors Completed NCT00611468 Phase 1 Topotecan;Erlotinib
29 Investigation Drug-drug Interaction Between Dabigatran and Clarithromycin Completed NCT01385683 Phase 1 Dabigatran then dabigatran and clarithromycin;Clarithromycin and dabigatran then dabigatran
30 Vinorelbine and XR9576 to Treat Cancer Completed NCT00001944 Phase 1 Vinorelbine;XR9576
31 TRK-700 Drug-Drug Interaction Study With Digoxin and Midazolam Completed NCT03043248 Phase 1 TRK-700;Digoxin;Midazolam
32 Brentuximab Vedotin, Cyclosporine, and Verapamil in Treating Patients With Relapsed or Refractory Hodgkin Lymphoma Recruiting NCT03013933 Phase 1 Brentuximab Vedotin;Cyclosporine;Verapamil
33 Food Effect Study of ModraDoc006 in Combination With Ritonavir Recruiting NCT03147378 Phase 1 ModraDoc006/r
34 Idarubicin Overcomes MDR1 Induced Chemoresistance With Higher Induction Remission Rate and Quality Than Daunorubicin in Acute Myeloid Leukemia Patients Unknown status NCT01889407 Idarubicin
35 Chinese Herb Nephropathy Epidemiology and Association With CYP2D6, CYP2C19, PXR, or MDR1 Polymorphism Unknown status NCT01503645
36 Role of SNP and DIGOXIN Response in Atrial Fibrillation Patients Unknown status NCT02167165 Digoxin
37 Drug Transport in Patients With Anorexia Nervosa Unknown status NCT00176150
38 Study of Usefulness of Genotyping to Predict Docetaxel Exposure and Adverse Events Completed NCT01110291 docetaxel + CEF
39 Study of Genetic Polymorphisms in Thai HIV-1 Infected Patients on SQV/r Completed NCT00476502
40 Influence of Genes on Sirolimus Metabolism in Patients With Kidney Transplantation Completed NCT00352547
41 Long-Term Pharmacokinetics of Tacrolimus in Renal Recipients Completed NCT00411944
42 Busulfan Pharmacokinetic Analysis and GST Pharmacogenetic Profile in Adults Undergoing Hematological Stem Cell Transplantation Completed NCT01608204
43 Prediction of the Response to Chemotherapy by Tomoscintigraphie the MIBI in the Balance Sheet Pre Hodgkin's Disease and Lymphoma Malins High Grade Completed NCT00551798 Not Applicable
44 Collection of Tissue Samples for Study of Multidrug Resistance Completed NCT00880503
45 Pharmacogenomic of Atazanavir/Efavirenz (ATV/EFV) Completed NCT01138267
46 Case-Control Viramune (Nevirapine) Toxicogenomics Study Completed NCT00310843 Nevirapine
47 Pharmacokinetic Interactions With Prednisolone in Healthy Volunteers and HIV-infected Patients Receiving Single-Dose Prednisone Completed NCT00072644
48 Pharmacogenetics of Remifentanil in Patients With Hypertension Undergoing Cesarean Delivery Under General Anesthesia Completed NCT01550640 Not Applicable Remifentanil
49 Variance of Oral Methadone Dosage: Description of Implicated Factors Completed NCT00894452
50 Evaluation of the Biological Response to Clopidogrel in Patients With Ischemic Stroke Completed NCT01955642 Clopidogrel

Search NIH Clinical Center for Rigid Spine Muscular Dystrophy 1

Cochrane evidence based reviews: rigid spine syndrome

Sources

Genetic Tests for Rigid Spine Muscular Dystrophy 1

About this section

Genetic tests related to Rigid Spine Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Eichsfeld Type Congenital Muscular Dystrophy 29 SELENON
Sources

Anatomical Context for Rigid Spine Muscular Dystrophy 1

About this section

MalaCards organs/tissues related to Rigid Spine Muscular Dystrophy 1:

41
Myeloid, Testes, T Cells, Kidney, Skeletal Muscle, B Cells
Sources

Publications for Rigid Spine Muscular Dystrophy 1

About this section

Articles related to Rigid Spine Muscular Dystrophy 1:

(show top 50) (show all 63)
# Title Authors Year
1
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. ( 28224639 )
2017
2
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. ( 27863379 )
2016
3
Rigid Spine Syndrome among Children in Oman. ( 26357557 )
2015
4
Late onset pompe disease mimicking rigid spine syndrome. ( 24534049 )
2014
5
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene. ( 25191266 )
2014
6
Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children. ( 23481446 )
2013
7
Rigid spine syndrome revealing late-onset Pompe disease. ( 20005713 )
2010
8
Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus. ( 17694409 )
2008
9
Rigid spine syndrome: a noninvasive cardiac evaluation. ( 17823762 )
2008
10
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). ( 18952429 )
2008
11
Rigid spine syndrome (vacuolar variant). A quantitative electromyograhic study. ( 17375883 )
2007
12
Rigid spine syndrome: vacuolar variant multimodal evoked potentials. ( 18051625 )
2007
13
Anesthesia for Cesarean delivery in a parturient with rigid spine syndrome. ( 16803927 )
2006
14
Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. ( 16531044 )
2006
15
Scoliosis correction in an adolescent with a rigid spine syndrome: case report. ( 16227881 )
2005
16
Dysferlinopathy associated with rigid spine syndrome. ( 15641596 )
2004
17
Rigid spine syndrome with chronic respiratory failure. ( 12645194 )
2002
18
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). ( 12207930 )
2002
19
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. ( 11571700 )
2001
20
Response to botulinum toxin in a case of rigid spine syndrome. ( 11601420 )
2001
21
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. ( 10665485 )
2000
22
Rigid spine syndrome with fiber type disproportion. ( 10204795 )
1999
23
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. ( 10545040 )
1999
24
Anaesthetic implications of rigid spine syndrome. ( 10411775 )
1999
25
Rigid spine syndrome. Two case-reports. ( 10418065 )
1999
26
Presence of emerinopathy in cases of rigid spine syndrome. ( 9829281 )
1998
27
Rigid spine syndrome. Case report. ( 10029887 )
1998
28
The rigid spine syndrome due to acid maltase deficiency. ( 9052818 )
1997
29
Airway management and rigid spine syndrome. ( 9052325 )
1997
30
Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. ( 7580249 )
1995
31
Two siblings with nemaline myopathy presenting with rigid spine syndrome. ( 7919974 )
1994
32
Respiratory manifestations of rigid spine syndrome. ( 8049843 )
1994
33
Rigid spine syndrome presenting with respiratory failure--report of one case. ( 8368070 )
1993
34
Rigid spine syndrome and nocturnal alveolar hypoventilation. ( 8312662 )
1993
35
The rigid spine syndrome: a vacuolar variant. ( 8515761 )
1993
36
Rigid spine syndrome with selective respiratory muscle weakness. ( 1579718 )
1992
37
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy. ( 2010758 )
1991
38
Rigid spine syndrome associated with cardiomyopathy: clinical and nosological considerations. ( 2089184 )
1990
39
Rigid spine syndrome with respiratory failure. ( 2246660 )
1990
40
Rigid spine syndrome and rigid spine sign in myopathies. ( 2794380 )
1989
41
Histopathological heterogeneity and cytopathological similarity of findings in different muscles of two brothers affected by rigid spine syndrome. ( 2614462 )
1989
42
Rigid spine syndrome. Report of 4 cases. ( 2517084 )
1989
43
Rigid spine syndrome and progressive external ophthalmoplegia in a 15-year-old girl. ( 2599274 )
1989
44
The rigid spine syndrome in two sisters. ( 3351513 )
1988
45
Surgical correction of cervical hyperextension in rigid spine syndrome. ( 3374763 )
1988
46
Diaphragm paralysis causing ventilatory failure in an adult with the rigid spine syndrome. ( 3688652 )
1987
47
The rigid spine syndrome. ( 3025374 )
1986
48
The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. ( 3746364 )
1986
49
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. ( 3802686 )
1986
50
The rigid spine syndrome--a myopathy of uncertain nosological position. ( 4045483 )
1985
Sources

Variations for Rigid Spine Muscular Dystrophy 1

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UniProtKB/Swiss-Prot genetic disease variations for Rigid Spine Muscular Dystrophy 1:

75
# Symbol AA change Variation ID SNP ID
1 SELENON p.Gly273Glu VAR_019635 rs121908182
2 SELENON p.His293Arg VAR_019636 rs776738184
3 SELENON p.Gly315Ser VAR_019637 rs121908188
4 SELENON p.Asn340Ile VAR_019638 rs749911126
5 SELENON p.Trp453Ser VAR_019639 rs121908186
6 SELENON p.Sec462Gly VAR_019640 rs121908187
7 SELENON p.Arg466Gln VAR_019641 rs121908185
8 SELENON p.Gly463Val VAR_058462
9 SELENON p.Arg469Gln VAR_058463 rs779162837
10 SELENON p.Arg469Trp VAR_058464 rs756927098

ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy 1:

6
(show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 GRCh37 Chromosome 1, 26135587: 26135587
2 SELENON NM_020451.2(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 GRCh38 Chromosome 1, 25809096: 25809096
3 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 GRCh37 Chromosome 1, 26139281: 26139281
4 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 GRCh38 Chromosome 1, 25812790: 25812790
5 SELENON NM_020451.2(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 GRCh37 Chromosome 1, 26126722: 26126722
6 SELENON NM_020451.2(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 GRCh38 Chromosome 1, 25800231: 25800231
7 SELENON NM_020451.2(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908185 GRCh37 Chromosome 1, 26140381: 26140381
8 SELENON NM_020451.2(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908185 GRCh38 Chromosome 1, 25813890: 25813890
9 SELENON NM_020451.2(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 GRCh37 Chromosome 1, 26139254: 26139254
10 SELENON NM_020451.2(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 GRCh38 Chromosome 1, 25812763: 25812763
11 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
12 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh37 Chromosome 1, 26135246: 26135246
13 SELENON NM_020451.2(SELENON): c.1384T> G (p.Sec462Gly) single nucleotide variant Pathogenic rs121908187 GRCh37 Chromosome 1, 26139280: 26139280
14 SELENON NM_020451.2(SELENON): c.1384T> G (p.Sec462Gly) single nucleotide variant Pathogenic rs121908187 GRCh38 Chromosome 1, 25812789: 25812789
15 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
16 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh38 Chromosome 1, 25809753: 25809753
17 SELENON SEPN1, 92-BP DEL deletion Pathogenic
18 SELENON NM_020451.2(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 GRCh37 Chromosome 1, 26139211: 26139211
19 SELENON NM_020451.2(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 GRCh38 Chromosome 1, 25812720: 25812720
20 SELENON NM_020451.2(SELENON): c.301+1G> T single nucleotide variant Pathogenic rs398124360 GRCh37 Chromosome 1, 26127652: 26127652
21 SELENON NM_020451.2(SELENON): c.301+1G> T single nucleotide variant Pathogenic rs398124360 GRCh38 Chromosome 1, 25801161: 25801161
22 SELENON NM_020451.2(SELENON): c.581C> T (p.Ala194Val) single nucleotide variant Uncertain significance rs727504148 GRCh37 Chromosome 1, 26135114: 26135114
23 SELENON NM_020451.2(SELENON): c.581C> T (p.Ala194Val) single nucleotide variant Uncertain significance rs727504148 GRCh38 Chromosome 1, 25808623: 25808623
24 SELENON NM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs) duplication Pathogenic rs797044620 GRCh37 Chromosome 1, 26126765: 26126793
25 SELENON NM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs) duplication Pathogenic rs797044620 GRCh38 Chromosome 1, 25800274: 25800302
26 SELENON NM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs) duplication Pathogenic rs797044621 GRCh37 Chromosome 1, 26126734: 26126743
27 SELENON NM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs) duplication Pathogenic rs797044621 GRCh38 Chromosome 1, 25800243: 25800252
28 SELENON NM_020451.2(SELENON): c.1428G> A (p.Ser476=) single nucleotide variant Conflicting interpretations of pathogenicity rs41284305 GRCh37 Chromosome 1, 26140412: 26140412
29 SELENON NM_020451.2(SELENON): c.1428G> A (p.Ser476=) single nucleotide variant Conflicting interpretations of pathogenicity rs41284305 GRCh38 Chromosome 1, 25813921: 25813921
30 SELENON NM_020451.2(SELENON): c.846C> T (p.Ser282=) single nucleotide variant Benign/Likely benign rs34177164 GRCh37 Chromosome 1, 26135615: 26135615
31 SELENON NM_020451.2(SELENON): c.846C> T (p.Ser282=) single nucleotide variant Benign/Likely benign rs34177164 GRCh38 Chromosome 1, 25809124: 25809124
32 SELENON NM_020451.2(SELENON): c.872+2T> C single nucleotide variant Pathogenic rs794727808 GRCh37 Chromosome 1, 26135643: 26135643
33 SELENON NM_020451.2(SELENON): c.872+2T> C single nucleotide variant Pathogenic rs794727808 GRCh38 Chromosome 1, 25809152: 25809152
34 SELENON NM_020451.2(SELENON): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs794727976 GRCh37 Chromosome 1, 26138185: 26138185
35 SELENON NM_020451.2(SELENON): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs794727976 GRCh38 Chromosome 1, 25811694: 25811694
36 SELENON NM_020451.2(SELENON): c.415G> A (p.Ala139Thr) single nucleotide variant Uncertain significance rs201692549 GRCh38 Chromosome 1, 25805153: 25805153
37 SELENON NM_020451.2(SELENON): c.415G> A (p.Ala139Thr) single nucleotide variant Uncertain significance rs201692549 GRCh37 Chromosome 1, 26131644: 26131644
38 SELENON NM_020451.2(SELENON): c.1092+6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs148071754 GRCh38 Chromosome 1, 25811541: 25811541
39 SELENON NM_020451.2(SELENON): c.1092+6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs148071754 GRCh37 Chromosome 1, 26138032: 26138032
40 ACTA1 NM_001100.3(ACTA1): c.460G> C (p.Val154Leu) single nucleotide variant Likely pathogenic rs768144106 GRCh38 Chromosome 1, 229432426: 229432426
41 ACTA1 NM_001100.3(ACTA1): c.460G> C (p.Val154Leu) single nucleotide variant Likely pathogenic rs768144106 GRCh37 Chromosome 1, 229568173: 229568173
42 SELENON NM_020451.2(SELENON): c.465G> A (p.Thr155=) single nucleotide variant Conflicting interpretations of pathogenicity rs753774853 GRCh38 Chromosome 1, 25805203: 25805203
43 SELENON NM_020451.2(SELENON): c.465G> A (p.Thr155=) single nucleotide variant Conflicting interpretations of pathogenicity rs753774853 GRCh37 Chromosome 1, 26131694: 26131694
44 SELENON NM_020451.2(SELENON): c.729G> A (p.Pro243=) single nucleotide variant Conflicting interpretations of pathogenicity rs139020143 GRCh37 Chromosome 1, 26135262: 26135262
45 SELENON NM_020451.2(SELENON): c.729G> A (p.Pro243=) single nucleotide variant Conflicting interpretations of pathogenicity rs139020143 GRCh38 Chromosome 1, 25808771: 25808771
46 SELENON NM_020451.2(SELENON): c.1645G> A (p.Val549Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147131452 GRCh37 Chromosome 1, 26142081: 26142081
47 SELENON NM_020451.2(SELENON): c.1645G> A (p.Val549Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147131452 GRCh38 Chromosome 1, 25815590: 25815590
48 SELENON NM_020451.2(SELENON): c.1745G> A (p.Arg582Gln) single nucleotide variant Benign rs74060854 GRCh37 Chromosome 1, 26142181: 26142181
49 SELENON NM_020451.2(SELENON): c.1745G> A (p.Arg582Gln) single nucleotide variant Benign rs74060854 GRCh38 Chromosome 1, 25815690: 25815690
50 SELENON NM_020451.2(SELENON): c.1535C> T (p.Ala512Val) single nucleotide variant Uncertain significance rs202167521 GRCh37 Chromosome 1, 26140602: 26140602
Sources

Expression for Rigid Spine Muscular Dystrophy 1

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Search GEO for disease gene expression data for Rigid Spine Muscular Dystrophy 1.
Sources

Pathways for Rigid Spine Muscular Dystrophy 1

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Pathways related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.49 DMD LAMA2 MYH7 TTN
2
Striated Muscle Contraction 1 66
11.19 ACTA1 DMD TTN
3
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 64
10.08 ACTA1 DMD LAMA2
Sources

GO Terms for Rigid Spine Muscular Dystrophy 1

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Cellular components related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle myosin complex GO:0005859 9.32 MYH7 TTN
2 I band GO:0031674 9.26 RYR1 TTN
3 Z disc GO:0030018 9.26 DMD MYH7 RYR1 TTN
4 striated muscle thin filament GO:0005865 9.16 ACTA1 TTN
5 sarcolemma GO:0042383 9.02 COL6A2 DMD DYSF LAMA2 RYR1

Biological processes related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.61 DMD FHL1 LAMA2
2 muscle cell cellular homeostasis GO:0046716 9.51 DMD GAA
3 skeletal muscle fiber development GO:0048741 9.5 ACTA1 RYR1 SELENON
4 regulation of the force of heart contraction GO:0002026 9.49 GAA MYH7
5 axoneme assembly GO:0035082 9.48 RSPH1 RSPH4A
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.46 DMD SELENON
7 cardiac muscle contraction GO:0060048 9.46 DMD GAA MYH7 TTN
8 striated muscle contraction GO:0006941 9.43 GAA MYH7 TTN
9 skeletal muscle thin filament assembly GO:0030240 9.4 ACTA1 TTN
10 nucleus localization GO:0051647 9.37 DMD PABPC1L
11 muscle contraction GO:0006936 9.35 ACTA1 DYSF MYH7 RYR1 TTN
12 muscle filament sliding GO:0030049 8.92 ACTA1 DMD MYH7 TTN

Molecular functions related to Rigid Spine Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 DYSF FKBP14 RYR1 SELENON TTN
2 myosin binding GO:0017022 8.62 ACTA1 DMD
Sources

Sources for Rigid Spine Muscular Dystrophy 1

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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