Aliases & Classifications for Morquio Syndrome

MalaCards integrated aliases for Morquio Syndrome:

Name: Morquio Syndrome 76 29 6
Mucopolysaccharidosis Iv 73

External Ids:

UMLS 73 C0026707

Summaries for Morquio Syndrome

MalaCards based summary : Morquio Syndrome, also known as mucopolysaccharidosis iv, is related to mucopolysaccharidosis iv and gangliosidosis gm1. 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 Alendronate and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin.

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 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 66376-36-1, 121268-17-5 2088
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
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
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
10 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Micronutrients Phase 4,Phase 3
12 Ergocalciferols Phase 4
13 Trace Elements Phase 4,Phase 3
14 Vitamins Phase 4,Phase 3,Phase 2
15 Vitamin D2 Phase 4
16 Calciferol Phase 4,Phase 2
17 Gentamicins Phase 4
18 Anti-Bacterial Agents Phase 4
19 Sodium Chloride Symporter Inhibitors Phase 4
20 diuretics Phase 4
21 Natriuretic Agents Phase 4,Phase 3,Phase 2
22 Vaccines Phase 4
23
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 75607-67-9, 21679-14-1 30751
24
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
25
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
26
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
27
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 55-98-1 2478
28
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
29
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
30
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
31
Etidronic acid Approved Phase 2, Phase 3,Phase 3 7414-83-7, 2809-21-4 3305
32
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
33
Denosumab Approved Phase 3,Phase 2 615258-40-7
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
35
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
36 Dermatologic Agents Phase 2, Phase 3,Phase 1
37 Vitamin B9 Phase 2, Phase 3
38 Folic Acid Antagonists Phase 2, Phase 3
39 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1
40 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
41 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
42 Antilymphocyte Serum Phase 2, Phase 3
43 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
44 Cyclosporins Phase 2, Phase 3,Phase 1,Not Applicable
45 Vitamin B Complex Phase 2, Phase 3
46 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
48 Antifungal Agents Phase 2, Phase 3,Phase 1
49 Thymoglobulin Phase 2, Phase 3
50 Antimetabolites Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 154)
# 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 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
8 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
9 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
10 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
11 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
12 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
13 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
14 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
15 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
16 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
17 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
18 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
19 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
20 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)
21 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
22 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
23 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
24 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
25 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
26 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
27 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
28 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
29 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
30 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
31 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
32 Open-label Extension Denosumab Study in Children and Young Adults With Osteogenesis Imperfecta Recruiting NCT03638128 Phase 3 Denosumab
33 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
34 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03197766 Phase 3 BMN 111;Placebo
35 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
36 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
37 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
38 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
39 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
40 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
41 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
42 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
43 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
44 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
45 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
46 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
47 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
48 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
49 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
50 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid

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
Brain, Liver, Skin, Bone, Spinal Cord, Testes

Publications for Morquio Syndrome

Articles related to Morquio Syndrome:

(show top 50) (show all 97)
# 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
Joint manifestations can provide diagnostic clues in Morquio syndrome. Comment on: "Mucopolysaccharidoses seen in adults in rheumatology" by Mitrovic et al., Joint Bone Spine 2017;84:663-70. ( 30025955 )
2018
6
Reply to the comment of Alkan Melikoglu 'Joint manifestations can provide diagnostic clues in Morquio syndrome, a case report'. ( 30064008 )
2018
7
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B. ( 30528226 )
2018
8
A second reported malignancy in a patient with Morquio syndrome. ( 28740834 )
2017
9
Simultaneous bilateral total hip arthroplasty in Morquio syndrome. ( 28913395 )
2017
10
Successful desensitization of elosulfase alfa-induced anaphylaxis in a pediatric patient with Morquio syndrome. ( 28689831 )
2017
11
Bone mineral density in MPS IV A (Morquio syndrome type A). ( 26670863 )
2016
12
Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome). ( 27251659 )
2016
13
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. ( 25496828 )
2015
14
Mortality in patients with morquio syndrome a. ( 24718838 )
2015
15
Cervical involvement in Morquio syndrome. ( 26096480 )
2015
16
Management of labor and delivery in a woman with Morquio syndrome. ( 26431780 )
2015
17
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. ( 26147980 )
2015
18
Psychological health in adults with morquio syndrome. ( 25614312 )
2015
19
Atlantoaxial instability as the presenting feature of Morquio syndrome. ( 25024573 )
2014
20
Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases. ( 24096444 )
2014
21
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. ( 24773188 )
2014
22
Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results. ( 23824392 )
2013
23
Gait pattern and lower extremity alignment in children with Morquio syndrome. ( 23010763 )
2013
24
Intellectual and neurological functioning in Morquio syndrome (MPS IVa). ( 22231379 )
2013
25
Spinal cord infarction remote from maximal compression in a patient with Morquio syndrome. ( 22656250 )
2012
26
A description of skeletal manifestation in adult case of morquio syndrome: radiographic and MRI appearance. ( 22829837 )
2012
27
Anesthetic care and perioperative complications of children with Morquio syndrome. ( 22738181 )
2012
28
In vivo confocal microscopy of the cornea in Morquio syndrome. ( 22863816 )
2012
29
A new lysosomal storage disorder resembling Morquio syndrome in sibs. ( 22330346 )
2012
30
Mucopolysaccharidoses type IV A (Morquio syndrome): a case series of three siblings. ( 22565520 )
2012
31
The lower extremity in Morquio syndrome. ( 22706472 )
2012
32
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. ( 21684269 )
2011
33
Atlantoaxial arthrodesis using C1-C2 transarticular screw fixation in a case of Morquio syndrome. ( 21886932 )
2011
34
Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers. ( 22176730 )
2011
35
Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report. ( 22245826 )
2011
36
Bilateral uncemented ceramic-on-ceramic total hip arthroplasty in a 26-year-old man with Morquio syndrome. ( 22263219 )
2011
37
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. ( 20503319 )
2010
38
Anesthetic management for foramen magnum decompression in a patient with Morquio syndrome: a case report. ( 20517622 )
2010
39
Atlantoaxial instability and cervical cord compression in Morquio syndrome. ( 21149818 )
2010
40
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. ( 19394256 )
2009
41
Perioperative implications of Morquio syndrome in a 31-year-old woman undergoing aortic valve replacement. ( 19201209 )
2009
42
child with Morquio syndrome and mixed mitral valve disease. ( 18590267 )
2008
43
Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report. ( 19102750 )
2008
44
Aortic valve replacement in a patient with morquio syndrome. ( 18430665 )
2008
45
Morquio syndrome: diagnosis in an adult. ( 18456538 )
2008
46
Total knee replacements in a patient with the Morquio syndrome. ( 19043137 )
2008
47
Mucopolysaccharidosis type IV (Morquio syndrome). ( 17879498 )
2007
48
Tracheomalacia in an adult with respiratory failure and Morquio syndrome. ( 17328826 )
2007
49
A molecular and histological characterization of cartilage from patients with Morquio syndrome. ( 17548214 )
2007
50
Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA). ( 16539564 )
2006

Variations for Morquio Syndrome

ClinVar genetic disease variations for Morquio Syndrome:

6 (show top 50) (show all 212)
# 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 GLB1 NM_000404.3(GLB1): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh37 Chromosome 3, 33099713: 33099713
4 GLB1 NM_000404.3(GLB1): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72555360 GRCh38 Chromosome 3, 33058221: 33058221
5 GLB1 NM_000404.3(GLB1): c.1233+8T> C single nucleotide variant Benign/Likely benign rs13093698 GRCh37 Chromosome 3, 33063050: 33063050
6 GLB1 NM_000404.3(GLB1): c.1233+8T> C single nucleotide variant Benign/Likely benign rs13093698 GRCh38 Chromosome 3, 33021558: 33021558
7 GLB1 NM_000404.3(GLB1): c.1426C> T (p.Leu476=) single nucleotide variant Uncertain significance rs113534264 GRCh37 Chromosome 3, 33058254: 33058254
8 GLB1 NM_000404.3(GLB1): c.1426C> T (p.Leu476=) single nucleotide variant Uncertain significance rs113534264 GRCh38 Chromosome 3, 33016762: 33016762
9 GLB1 NM_000404.3(GLB1): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign/Likely benign rs73826339 GRCh37 Chromosome 3, 33055688: 33055688
10 GLB1 NM_000404.3(GLB1): c.1594A> G (p.Ser532Gly) single nucleotide variant Benign/Likely benign rs73826339 GRCh38 Chromosome 3, 33014196: 33014196
11 GLB1 NM_000404.3(GLB1): c.1824G> C (p.Leu608=) single nucleotide variant Benign rs77226678 GRCh37 Chromosome 3, 33038747: 33038747
12 GLB1 NM_000404.3(GLB1): c.1824G> C (p.Leu608=) single nucleotide variant Benign rs77226678 GRCh38 Chromosome 3, 32997255: 32997255
13 GLB1 NM_000404.3(GLB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs7637099 GRCh37 Chromosome 3, 33138549: 33138549
14 GLB1 NM_000404.3(GLB1): c.29C> T (p.Pro10Leu) single nucleotide variant Benign rs7637099 GRCh38 Chromosome 3, 33097057: 33097057
15 GLB1 NM_000404.3(GLB1): c.34T> C (p.Leu12=) single nucleotide variant Benign rs7614776 GRCh37 Chromosome 3, 33138544: 33138544
16 GLB1 NM_000404.3(GLB1): c.34T> C (p.Leu12=) single nucleotide variant Benign rs7614776 GRCh38 Chromosome 3, 33097052: 33097052
17 GLB1 NM_000404.3(GLB1): c.458-11T> C single nucleotide variant Benign/Likely benign rs34204221 GRCh37 Chromosome 3, 33107060: 33107060
18 GLB1 NM_000404.3(GLB1): c.458-11T> C single nucleotide variant Benign/Likely benign rs34204221 GRCh38 Chromosome 3, 33065568: 33065568
19 GLB1 NM_000404.3(GLB1): c.792+10G> T single nucleotide variant Benign/Likely benign rs79518579 GRCh37 Chromosome 3, 33094973: 33094973
20 GLB1 NM_000404.3(GLB1): c.792+10G> T single nucleotide variant Benign/Likely benign rs79518579 GRCh38 Chromosome 3, 33053481: 33053481
21 GALNS NM_000512.4(GALNS): c.1177G> T (p.Ala393Ser) single nucleotide variant Benign/Likely benign rs2303269 GRCh37 Chromosome 16, 88891240: 88891240
22 GALNS NM_000512.4(GALNS): c.1177G> T (p.Ala393Ser) single nucleotide variant Benign/Likely benign rs2303269 GRCh38 Chromosome 16, 88824832: 88824832
23 GALNS NM_000512.4(GALNS): c.1413C> T (p.Val471=) single nucleotide variant Benign/Likely benign rs73251084 GRCh37 Chromosome 16, 88884484: 88884484
24 GALNS NM_000512.4(GALNS): c.1413C> T (p.Val471=) single nucleotide variant Benign/Likely benign rs73251084 GRCh38 Chromosome 16, 88818076: 88818076
25 GALNS NM_000512.4(GALNS): c.1431G> A (p.Glu477=) single nucleotide variant Benign rs2303271 GRCh37 Chromosome 16, 88884466: 88884466
26 GALNS NM_000512.4(GALNS): c.1431G> A (p.Glu477=) single nucleotide variant Benign rs2303271 GRCh38 Chromosome 16, 88818058: 88818058
27 GALNS NM_000512.4(GALNS): c.199C> A (p.Leu67Met) single nucleotide variant Benign rs11862754 GRCh37 Chromosome 16, 88909159: 88909159
28 GALNS NM_000512.4(GALNS): c.199C> A (p.Leu67Met) single nucleotide variant Benign rs11862754 GRCh38 Chromosome 16, 88842751: 88842751
29 GALNS NM_000512.4(GALNS): c.510T> C (p.Tyr170=) single nucleotide variant Benign/Likely benign rs3743544 GRCh37 Chromosome 16, 88904086: 88904086
30 GALNS NM_000512.4(GALNS): c.510T> C (p.Tyr170=) single nucleotide variant Benign/Likely benign rs3743544 GRCh38 Chromosome 16, 88837678: 88837678
31 GALNS NM_000512.4(GALNS): c.692C> G (p.Ala231Gly) single nucleotide variant Benign/Likely benign rs34745339 GRCh37 Chromosome 16, 88902199: 88902199
32 GALNS NM_000512.4(GALNS): c.692C> G (p.Ala231Gly) single nucleotide variant Benign/Likely benign rs34745339 GRCh38 Chromosome 16, 88835791: 88835791
33 GALNS NM_000512.4(GALNS): c.708C> T (p.His236=) single nucleotide variant Benign rs1064315 GRCh37 Chromosome 16, 88902183: 88902183
34 GALNS NM_000512.4(GALNS): c.708C> T (p.His236=) single nucleotide variant Benign rs1064315 GRCh38 Chromosome 16, 88835775: 88835775
35 GALNS NM_000512.4(GALNS): c.846C> T (p.Phe282=) single nucleotide variant Benign/Likely benign rs35232749 GRCh37 Chromosome 16, 88901673: 88901673
36 GALNS NM_000512.4(GALNS): c.846C> T (p.Phe282=) single nucleotide variant Benign/Likely benign rs35232749 GRCh38 Chromosome 16, 88835265: 88835265
37 GLB1 NM_000404.3(GLB1): c.325C> T (p.Arg109Trp) single nucleotide variant Benign/Likely benign rs35289681 GRCh37 Chromosome 3, 33110383: 33110383
38 GLB1 NM_000404.3(GLB1): c.325C> T (p.Arg109Trp) single nucleotide variant Benign/Likely benign rs35289681 GRCh38 Chromosome 3, 33068891: 33068891
39 GALNS NM_000512.4(GALNS): c.1462G> A (p.Val488Met) single nucleotide variant Benign/Likely benign rs78127134 GRCh37 Chromosome 16, 88884435: 88884435
40 GALNS NM_000512.4(GALNS): c.1462G> A (p.Val488Met) single nucleotide variant Benign/Likely benign rs78127134 GRCh38 Chromosome 16, 88818027: 88818027
41 GALNS NM_000512.4(GALNS): c.421T> A (p.Trp141Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727625 GRCh37 Chromosome 16, 88907401: 88907401
42 GALNS NM_000512.4(GALNS): c.421T> A (p.Trp141Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727625 GRCh38 Chromosome 16, 88840993: 88840993
43 GALNS NM_000512.4(GALNS): c.599C> T (p.Thr200Met) single nucleotide variant Benign/Likely benign rs7187889 GRCh37 Chromosome 16, 88902643: 88902643
44 GALNS NM_000512.4(GALNS): c.599C> T (p.Thr200Met) single nucleotide variant Benign/Likely benign rs7187889 GRCh38 Chromosome 16, 88836235: 88836235
45 GALNS NM_000512.4(GALNS): c.665G> A (p.Arg222Gln) single nucleotide variant Uncertain significance rs140162658 GRCh37 Chromosome 16, 88902226: 88902226
46 GALNS NM_000512.4(GALNS): c.665G> A (p.Arg222Gln) single nucleotide variant Uncertain significance rs140162658 GRCh38 Chromosome 16, 88835818: 88835818
47 APRT; GALNS NM_000512.4(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 GRCh37 Chromosome 16, 88880811: 88880811
48 APRT; GALNS NM_000512.4(GALNS): c.*36G> A single nucleotide variant Benign rs11076715 GRCh38 Chromosome 16, 88814403: 88814403
49 GALNS NM_000512.4(GALNS): c.858G> A (p.Thr286=) single nucleotide variant Conflicting interpretations of pathogenicity rs140299014 GRCh38 Chromosome 16, 88835253: 88835253
50 GALNS NM_000512.4(GALNS): c.858G> A (p.Thr286=) single nucleotide variant Conflicting interpretations of pathogenicity rs140299014 GRCh37 Chromosome 16, 88901661: 88901661

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
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