Aliases & Classifications for Morquio Syndrome

MalaCards integrated aliases for Morquio Syndrome:

Name: Morquio Syndrome 76 29 6
Mucopolysaccharidosis Iv 73

Summaries for Morquio Syndrome

MalaCards based summary : Morquio Syndrome, also known as mucopolysaccharidosis iv, is related to mucopolysaccharidosis iv and morquio syndrome c. An important gene associated with Morquio Syndrome is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways is Glycosaminoglycan degradation. The drugs Teriparatide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain.

Wikipedia : 76 Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or... more...

Related Diseases for Morquio Syndrome

Graphical network of the top 20 diseases related to Morquio Syndrome:



Diseases related to Morquio Syndrome

Symptoms & Phenotypes for Morquio Syndrome

Drugs & Therapeutics for Morquio Syndrome

Drugs for Morquio Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
2
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 40391-99-9 4674
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
11 diuretics Phase 4
12 Micronutrients Phase 4,Phase 3
13 Natriuretic Agents Phase 4,Phase 3,Phase 2
14 Sodium Chloride Symporter Inhibitors Phase 4
15 Gentamicins Phase 4
16 Trace Elements Phase 4,Phase 3
17 Anti-Bacterial Agents Phase 4
18 Ergocalciferols Phase 4
19 Vitamins Phase 4,Phase 3,Phase 2
20 Vaccines Phase 4
21 Vitamin D2 Nutraceutical Phase 4
22 Calciferol Nutraceutical Phase 4
23
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
24
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
25
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 21679-14-1, 75607-67-9 30751
26
Etidronic acid Approved Phase 2, Phase 3,Phase 3 7414-83-7, 2809-21-4 3305
27
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
28
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
29
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
30
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 55-98-1 2478
31
Denosumab Approved Phase 3,Phase 2 615258-40-7
32
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
33
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
35
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
36 Risedronate Sodium Phase 2, Phase 3,Phase 3 115436-72-1
37 calcium channel blockers Phase 2, Phase 3,Phase 3
38 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
39 Folic Acid Antagonists Phase 2, Phase 3
40 Cyclosporins Phase 2, Phase 3,Phase 1,Not Applicable
41 Dermatologic Agents Phase 2, Phase 3,Phase 1
42 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
43 Vitamin B Complex Phase 2, Phase 3
44 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
45 Antifungal Agents Phase 2, Phase 3,Phase 1
46 Antilymphocyte Serum Phase 2, Phase 3
47 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1
48 Antimetabolites Phase 2, Phase 3,Phase 3
49 Antiviral Agents Phase 2, Phase 3,Phase 3
50 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 144)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
2 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
3 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 A Study to Assess the Long-term Performance of SmartSet® HV and SmartSet® GHV Bone Cements in Primary Total Hip Replacement Completed NCT00872066 Phase 4
6 A Randomised Single Centre Study to Compare the Long-term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Completed NCT00208442 Phase 4
7 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
8 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
9 A Randomised Study to Compare Metal Ion Release and Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-Metal or a Metal-on-Metal Bearing Terminated NCT00873444 Phase 4
10 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
11 A Two Centre Study to Assess the Stability and Long-term Performance of the C-Stem™ AMT in a Total Primary Hip Replacement Terminated NCT00872573 Phase 4
12 Multi-Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Resurfacing and Primary Total Hip Replacement Terminated NCT00872547 Phase 4
13 A Single Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-ceramic Bearing in Primary Total Hip Replacement Terminated NCT00872222 Phase 4
14 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
15 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
16 A Two Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Metal-on-Metal Bearing in Primary Total Hip Replacement Terminated NCT00208364 Phase 4
17 A Multi-centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Polyethylene-on-metal Bearing in Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
18 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
19 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen);Cyclosporin, Methotrexate (GVHD prophylaxis)
20 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
21 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
22 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
23 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
24 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
25 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
26 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
27 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
28 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
29 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
30 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
31 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
32 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
33 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
34 A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip Replacement Terminated NCT00208468 Phase 3
35 A Randomised Single Centre Study to Compare the Long-term Performance of 4 Designs of the DePuy Ultima LX Stem in Primary Total Hip Replacement Terminated NCT00208351 Phase 3
36 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
37 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
38 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2 BMN 110
39 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
40 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
41 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
42 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
43 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
44 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
45 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
46 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
47 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
48 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
49 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
50 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2

Search NIH Clinical Center for Morquio Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Morquio Syndrome

Genetic tests related to Morquio Syndrome:

# Genetic test Affiliating Genes
1 Morquio Syndrome 29

Anatomical Context for Morquio Syndrome

MalaCards organs/tissues related to Morquio Syndrome:

41
Bone, Bone Marrow, Brain, Testes, T Cells, Spinal Cord, Skin

Publications for Morquio Syndrome

Articles related to Morquio Syndrome:

(show all 43)
# Title Authors Year
1
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. ( 29741470 )
2018
2
Air- Q intubating laryngeal airway guided intubation in Morquio syndrome. ( 29962532 )
2018
3
Immune modulation in a patient with Morquio syndrome treated with enzyme replacement therapy. ( 29426755 )
2018
4
Morquio Syndrome: A Case Report. ( 29736354 )
2018
5
A second reported malignancy in a patient with Morquio syndrome. ( 28740834 )
2017
6
Simultaneous bilateral total hip arthroplasty in Morquio syndrome. ( 28913395 )
2017
7
Successful desensitization of elosulfase alfa-induced anaphylaxis in a pediatric patient with Morquio syndrome. ( 28689831 )
2017
8
Bone mineral density in MPS IV A (Morquio syndrome type A). ( 26670863 )
2016
9
Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome). ( 27251659 )
2016
10
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. ( 25496828 )
2015
11
Mortality in patients with morquio syndrome a. ( 24718838 )
2015
12
Cervical involvement in Morquio syndrome. ( 26096480 )
2015
13
Management of labor and delivery in a woman with Morquio syndrome. ( 26431780 )
2015
14
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. ( 26147980 )
2015
15
Psychological health in adults with morquio syndrome. ( 25614312 )
2015
16
Atlantoaxial instability as the presenting feature of Morquio syndrome. ( 25024573 )
2014
17
Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases. ( 24096444 )
2014
18
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. ( 24773188 )
2014
19
Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results. ( 23824392 )
2013
20
Gait pattern and lower extremity alignment in children with Morquio syndrome. ( 23010763 )
2013
21
Spinal cord infarction remote from maximal compression in a patient with Morquio syndrome. ( 22656250 )
2012
22
A description of skeletal manifestation in adult case of morquio syndrome: radiographic and MRI appearance. ( 22829837 )
2012
23
Anesthetic care and perioperative complications of children with Morquio syndrome. ( 22738181 )
2012
24
In vivo confocal microscopy of the cornea in Morquio syndrome. ( 22863816 )
2012
25
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. ( 21684269 )
2011
26
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. ( 20503319 )
2010
27
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. ( 19394256 )
2009
28
child with Morquio syndrome and mixed mitral valve disease. ( 18590267 )
2008
29
Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report. ( 19102750 )
2008
30
Mucopolysaccharidosis type IV (Morquio syndrome). ( 17879498 )
2007
31
[RFLP of a StuI site in the GALNS gene in Morquio Syndrome of Guangdong national minority population]. ( 15639893 )
2003
32
MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in sanfilippo and morquio syndromes. ( 12357455 )
2002
33
Dental findings in Morquio syndrome (mucopolysaccharidoses type IVa). ( 11204070 )
2000
34
[Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis]. ( 11022666 )
2000
35
Cataracts in Morquio syndrome (mucopolysaccharidosis IV A). ( 8233358 )
1993
36
Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A). ( 2119328 )
1990
37
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred. ( 3933344 )
1985
38
Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. ( 6224421 )
1983
39
Ultrastructure of lymphocytes and skin in mucopolysaccharidosis IV A (Morquio syndrome). ( 6792941 )
1981
40
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. ( 6446239 )
1980
41
The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies. ( 810613 )
1975
42
Oral findings in the Morquio syndrome (mucopolysaccharidosis IV). ( 803669 )
1975
43
Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV). ( 4229430 )
1968

Variations for Morquio Syndrome

ClinVar genetic disease variations for Morquio Syndrome:

6
(show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNS NM_000512.4(GALNS): c.337A> T (p.Ile113Phe) single nucleotide variant Pathogenic rs118204438 GRCh37 Chromosome 16, 88907485: 88907485
2 GALNS NM_000512.4(GALNS): c.337A> T (p.Ile113Phe) single nucleotide variant Pathogenic rs118204438 GRCh38 Chromosome 16, 88841077: 88841077
3 GALNS NM_000512.4(GALNS): c.1462G> A (p.Val488Met) single nucleotide variant Benign/Likely benign rs78127134 GRCh37 Chromosome 16, 88884435: 88884435
4 GALNS NM_000512.4(GALNS): c.1462G> A (p.Val488Met) single nucleotide variant Benign/Likely benign rs78127134 GRCh38 Chromosome 16, 88818027: 88818027
5 GALNS NM_000512.4(GALNS): c.421T> A (p.Trp141Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727625 GRCh37 Chromosome 16, 88907401: 88907401
6 GALNS NM_000512.4(GALNS): c.421T> A (p.Trp141Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727625 GRCh38 Chromosome 16, 88840993: 88840993
7 GALNS NM_000512.4(GALNS): c.599C> T (p.Thr200Met) single nucleotide variant Benign/Likely benign rs7187889 GRCh37 Chromosome 16, 88902643: 88902643
8 GALNS NM_000512.4(GALNS): c.599C> T (p.Thr200Met) single nucleotide variant Benign/Likely benign rs7187889 GRCh38 Chromosome 16, 88836235: 88836235
9 GALNS NM_000512.4(GALNS): c.665G> A (p.Arg222Gln) single nucleotide variant Uncertain significance rs140162658 GRCh37 Chromosome 16, 88902226: 88902226
10 GALNS NM_000512.4(GALNS): c.665G> A (p.Arg222Gln) single nucleotide variant Uncertain significance rs140162658 GRCh38 Chromosome 16, 88835818: 88835818
11 APRT; GALNS NM_000512.4(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 GRCh37 Chromosome 16, 88880811: 88880811
12 APRT; GALNS NM_000512.4(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 GRCh38 Chromosome 16, 88814403: 88814403
13 GALNS NM_000512.4(GALNS): c.858G> A (p.Thr286=) single nucleotide variant Uncertain significance rs140299014 GRCh38 Chromosome 16, 88835253: 88835253
14 GALNS NM_000512.4(GALNS): c.858G> A (p.Thr286=) single nucleotide variant Uncertain significance rs140299014 GRCh37 Chromosome 16, 88901661: 88901661
15 GALNS NM_000512.4(GALNS): c.723C> T (p.Ala241=) single nucleotide variant Conflicting interpretations of pathogenicity rs117053987 GRCh37 Chromosome 16, 88902168: 88902168
16 GALNS NM_000512.4(GALNS): c.723C> T (p.Ala241=) single nucleotide variant Conflicting interpretations of pathogenicity rs117053987 GRCh38 Chromosome 16, 88835760: 88835760
17 GALNS NM_000512.4(GALNS): c.318C> T (p.Asn106=) single nucleotide variant Uncertain significance rs34278797 GRCh37 Chromosome 16, 88908306: 88908306
18 GALNS NM_000512.4(GALNS): c.318C> T (p.Asn106=) single nucleotide variant Uncertain significance rs34278797 GRCh38 Chromosome 16, 88841898: 88841898
19 GALNS NM_000512.4(GALNS): c.775C> A (p.Arg259=) single nucleotide variant Conflicting interpretations of pathogenicity rs61742258 GRCh37 Chromosome 16, 88901744: 88901744
20 GALNS NM_000512.4(GALNS): c.775C> A (p.Arg259=) single nucleotide variant Conflicting interpretations of pathogenicity rs61742258 GRCh38 Chromosome 16, 88835336: 88835336
21 GLB1 NM_000404.3(GLB1): c.*354T> C single nucleotide variant Likely benign rs12167 GRCh38 Chromosome 3, 32996691: 32996691
22 GLB1 NM_000404.3(GLB1): c.*354T> C single nucleotide variant Likely benign rs12167 GRCh37 Chromosome 3, 33038183: 33038183
23 GLB1 NM_000404.3(GLB1): c.*319G> A single nucleotide variant Uncertain significance rs139730198 GRCh38 Chromosome 3, 32996726: 32996726
24 GLB1 NM_000404.3(GLB1): c.*319G> A single nucleotide variant Uncertain significance rs139730198 GRCh37 Chromosome 3, 33038218: 33038218
25 GLB1 NM_000404.3(GLB1): c.*182A> G single nucleotide variant Uncertain significance rs76762176 GRCh38 Chromosome 3, 32996863: 32996863
26 GLB1 NM_000404.3(GLB1): c.*182A> G single nucleotide variant Uncertain significance rs76762176 GRCh37 Chromosome 3, 33038355: 33038355
27 GLB1 NM_000404.3(GLB1): c.1735-5_1735-4dupTC duplication Uncertain significance rs745361874 GRCh38 Chromosome 3, 32997348: 32997349
28 GLB1 NM_000404.3(GLB1): c.1735-5_1735-4dupTC duplication Uncertain significance rs745361874 GRCh37 Chromosome 3, 33038840: 33038841
29 GLB1 NM_000404.3(GLB1): c.553-8A> G single nucleotide variant Uncertain significance rs886058342 GRCh38 Chromosome 3, 33058277: 33058277
30 GLB1 NM_000404.3(GLB1): c.553-8A> G single nucleotide variant Uncertain significance rs886058342 GRCh37 Chromosome 3, 33099769: 33099769
31 GLB1 NM_000404.3(GLB1): c.376A> G (p.Ile126Val) single nucleotide variant Uncertain significance rs886058343 GRCh38 Chromosome 3, 33068840: 33068840
32 GLB1 NM_000404.3(GLB1): c.376A> G (p.Ile126Val) single nucleotide variant Uncertain significance rs886058343 GRCh37 Chromosome 3, 33110332: 33110332
33 GLB1 NM_000404.3(GLB1): c.4C> A (p.Pro2Thr) single nucleotide variant Uncertain significance rs772539129 GRCh38 Chromosome 3, 33097082: 33097082
34 GLB1 NM_000404.3(GLB1): c.4C> A (p.Pro2Thr) single nucleotide variant Uncertain significance rs772539129 GRCh37 Chromosome 3, 33138574: 33138574
35 GLB1 NM_000404.3(GLB1): c.*376C> G single nucleotide variant Uncertain significance rs147437116 GRCh38 Chromosome 3, 32996669: 32996669
36 GLB1 NM_000404.3(GLB1): c.*376C> G single nucleotide variant Uncertain significance rs147437116 GRCh37 Chromosome 3, 33038161: 33038161
37 GLB1 NM_000404.3(GLB1): c.*194C> A single nucleotide variant Uncertain significance rs886058340 GRCh38 Chromosome 3, 32996851: 32996851
38 GLB1 NM_000404.3(GLB1): c.*194C> A single nucleotide variant Uncertain significance rs886058340 GRCh37 Chromosome 3, 33038343: 33038343
39 GLB1 NM_000404.3(GLB1): c.*184G> A single nucleotide variant Uncertain significance rs143430374 GRCh38 Chromosome 3, 32996861: 32996861
40 GLB1 NM_000404.3(GLB1): c.*184G> A single nucleotide variant Uncertain significance rs143430374 GRCh37 Chromosome 3, 33038353: 33038353
41 GLB1 NM_000404.3(GLB1): c.1715A> G (p.Gln572Arg) single nucleotide variant Uncertain significance rs183126947 GRCh37 Chromosome 3, 33055567: 33055567
42 GLB1 NM_000404.3(GLB1): c.1715A> G (p.Gln572Arg) single nucleotide variant Uncertain significance rs183126947 GRCh38 Chromosome 3, 33014075: 33014075
43 GLB1 NM_000404.3(GLB1): c.1603C> G (p.His535Asp) single nucleotide variant Uncertain significance rs886058341 GRCh37 Chromosome 3, 33055679: 33055679
44 GLB1 NM_000404.3(GLB1): c.1603C> G (p.His535Asp) single nucleotide variant Uncertain significance rs886058341 GRCh38 Chromosome 3, 33014187: 33014187
45 GLB1 NM_000404.3(GLB1): c.1530G> A (p.Thr510=) single nucleotide variant Uncertain significance rs191203702 GRCh37 Chromosome 3, 33055752: 33055752
46 GLB1 NM_000404.3(GLB1): c.1530G> A (p.Thr510=) single nucleotide variant Uncertain significance rs191203702 GRCh38 Chromosome 3, 33014260: 33014260
47 GLB1 NM_000404.3(GLB1): c.1480-8C> G single nucleotide variant Uncertain significance rs753129246 GRCh38 Chromosome 3, 33014318: 33014318
48 GLB1 NM_000404.3(GLB1): c.1480-8C> G single nucleotide variant Uncertain significance rs753129246 GRCh37 Chromosome 3, 33055810: 33055810
49 GLB1 NM_000404.3(GLB1): c.-25C> G single nucleotide variant Uncertain significance rs368944274 GRCh38 Chromosome 3, 33097110: 33097110
50 GLB1 NM_000404.3(GLB1): c.-25C> G single nucleotide variant Uncertain significance rs368944274 GRCh37 Chromosome 3, 33138602: 33138602

Expression for Morquio Syndrome

Search GEO for disease gene expression data for Morquio Syndrome.

Pathways for Morquio Syndrome

Pathways related to Morquio Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.92 GALNS GLB1

GO Terms for Morquio Syndrome

Cellular components related to Morquio Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 GALNS GLB1
2 azurophil granule lumen GO:0035578 8.62 GALNS GLB1

Biological processes related to Morquio Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratan sulfate catabolic process GO:0042340 8.62 GALNS GLB1

Sources for Morquio Syndrome

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
Content
Loading form....