Aliases & Classifications for Morquio Syndrome

MalaCards integrated aliases for Morquio Syndrome:

Name: Morquio Syndrome 73 29 6
Mucopolysaccharidosis Iv 70
Morquios Syndrome 54

External Ids:

UMLS 70 C0026707

Summaries for Morquio Syndrome

MalaCards based summary : Morquio Syndrome, also known as mucopolysaccharidosis iv, is related to mucopolysaccharidosis, type ivb and mucopolysaccharidosis, type iva. An important gene associated with Morquio Syndrome is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotype is renal/urinary system.

Wikipedia : 73 Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in... more...

Related Diseases for Morquio Syndrome

Diseases in the Morquio Syndrome family:

Morquio Syndrome C

Diseases related to Morquio Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type ivb 32.0 TMPPE GLB1 GALNS CTSA
2 mucopolysaccharidosis, type iva 31.0 GUSB GLB1 GALNS CTSA ARSH APRT
3 mucopolysaccharidosis iv 30.8 TMPPE GUSB GLB1 GALNS CTSA APRT
4 mucopolysaccharidoses 30.2 GUSB ARSH
5 spondyloepiphyseal dysplasia with congenital joint dislocations 30.1 TRPV4 GALNS
6 gangliosidosis 29.2 TMPPE NEU1 GLB1 GALNS CTSA
7 gm1 gangliosidosis 29.2 TMPPE NEU1 GLB1 GALNS CTSA
8 mucopolysaccharidosis-plus syndrome 29.1 NEU1 GUSB GLB1 GALNS CTSA ARSH
9 mucopolysaccharidosis iii 29.0 GUSB GLB1 GALNS ARSH
10 lysosomal storage disease 28.9 NEU1 GUSB GLB1 GALNS CTSA ARSH
11 hurler syndrome 28.5 NEU1 GUSB GLB1 GALNS CTSA
12 morquio syndrome c 11.6
13 spondyloepiphyseal dysplasia, maroteaux type 11.5
14 pectus carinatum 11.0
15 odontoid hypoplasia 10.2
16 dwarfism 10.2
17 adenine phosphoribosyltransferase deficiency 10.2 GALNS APRT
18 gm1-gangliosidosis, type i 10.1 TMPPE GLB1
19 autosomal recessive disease 10.1
20 fucosidosis 10.1 GLB1 GALNS
21 gm1-gangliosidosis, type iii 10.1 TMPPE GLB1
22 paraplegia 10.1
23 mongolian spot 10.1 NEU1 GLB1
24 multiple sulfatase deficiency 10.0 GALNS ARSH
25 respiratory failure 10.0
26 dysostosis 10.0
27 spinal stenosis 10.0
28 hip subluxation 10.0
29 spinal cord injury 10.0
30 lysosomal storage disease with skeletal involvement 10.0
31 gm2 gangliosidosis 10.0 NEU1 GLB1
32 atrophic rhinitis 9.9 NEU1 CTSA
33 skin hemangioma 9.9 NEU1 CTSA
34 tay-sachs disease 9.9 NEU1 GLB1
35 mucopolysaccharidosis, type vii 9.9 GUSB GALNS
36 angiokeratoma 9.9 NEU1 CTSA
37 mucopolysaccharidosis, type iiib 9.9 GUSB GALNS
38 sphingolipidosis 9.9 GLB1 CTSA
39 brachyolmia type 3 9.8
40 coxa vara 9.8
41 metatropic dysplasia 9.8
42 parastremmatic dwarfism 9.8
43 protrusio acetabuli 9.8
44 spondylometaphyseal dysplasia, kozlowski type 9.8
45 hypophosphatasia, infantile 9.8
46 rothmund-thomson syndrome, type 2 9.8
47 tyrosinemia, type iii 9.8
48 astigmatism 9.8
49 hereditary motor and sensory neuropathy, type iic 9.8
50 brachyolmia type 2 9.8

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



Diseases related to Morquio Syndrome

Symptoms & Phenotypes for Morquio Syndrome

MGI Mouse Phenotypes related to Morquio Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 APRT CTSA GALNS GLB1 GUSB NEU1

Drugs & Therapeutics for Morquio Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
2
Losartan Approved Phase 2 114798-26-4 3961
3
Morphine Approved, Investigational Phase 2 57-27-2 5288826
4 Giapreza Phase 2
5 Angiotensin II Type 1 Receptor Blockers Phase 2
6 Angiotensin Receptor Antagonists Phase 2
7 Angiotensinogen Phase 2
8 Antihypertensive Agents Phase 2
9 Anti-Arrhythmia Agents Phase 2
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
2 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
3 A Phase 1/2, Multicenter, Open-label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Completed NCT00884949 Phase 1, Phase 2 BMN 110
4 A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
5 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
6 A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01242111 Phase 1, Phase 2 BMN 110
7 A Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation Terminated NCT01697319 Phase 2 BMN 110
8 A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01609062 Phase 2 BMN 110;BMN 110
9 A Multicenter, Open-label BMN 110 US Expanded Access Program (BMN 110 US EAP) to Provide BMN 110 to Patients Diagnosed With MPS IVA Approved for marketing NCT01858103 BMN 110
10 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
11 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
12 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
13 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
14 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
15 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
16 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
17 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
18 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
19 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
20 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
21 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
22 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Active, not recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
23 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329
24 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
25 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
26 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
27 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Morquio Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


ELOSULFASE ALFA

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:

40
Spinal Cord

Publications for Morquio Syndrome

Articles related to Morquio Syndrome:

(show top 50) (show all 277)
# Title Authors PMID Year
1
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. 61 6
24773188 2014
2
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A. 61 6
25287660 2014
3
GALNS mutations in Indian patients with mucopolysaccharidosis IVA. 6 61
25252036 2014
4
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A. 6 61
22940367 2012
5
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. 61 6
22521955 2012
6
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. 54 6
8829629 1996
7
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families. 6
30458289 2019
8
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. 6
29731656 2018
9
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. 6
28844463 2017
10
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations. 6
25545067 2015
11
Overcoming the barriers to diagnosis of Morquio A syndrome. 6
25433535 2014
12
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. 6
25137622 2014
13
In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA. 6
25501214 2014
14
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 6
24726177 2014
15
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. 6
23876334 2013
16
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 6
22976768 2013
17
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. 6
17876718 2007
18
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. 6
16837223 2006
19
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 6
16287098 2005
20
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 6
15235041 2004
21
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. 6
15309681 2004
22
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. 6
12721840 2003
23
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. 6
10814710 2000
24
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 6
9521421 1998
25
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. 6
9385378 1997
26
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). 6
9401012 1997
27
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. 6
9298823 1997
28
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. 6
7668283 1995
29
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. 6
7795586 1995
30
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. 61 54
19394256 2009
31
Preimplantation genetic diagnosis of Morquio disease. 61 54
18792995 2008
32
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples. 54 61
17027703 2007
33
[RFLP of a StuI site in the GALNS gene in Morquio Syndrome of Guangdong national minority population]. 54 61
15639893 2003
34
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. 61 54
11686941 2001
35
[Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis]. 54 61
11022666 2000
36
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region. 54 61
10699374 2000
37
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. 54 61
9183994 1997
38
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. 61 54
8020961 1994
39
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. 54 61
8325655 1993
40
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines. 61 54
2127527 1990
41
C1-C2 instability in a 3-year-old girl with Morquio syndrome: A technically challenging fixation under intra-operative CT scan and neuronavigation. 61
33771619 2021
42
Severe rejection of deep anterior lamellar keratoplasty in a patient with mucopolysaccharidosis type IV (Morquio syndrome). 61
33642059 2021
43
Morquio Syndrome Presenting with Dural Band Pathology: A Case Report. 61
33390680 2020
44
Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome. 61
32172394 2020
45
Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA. 61
31897472 2020
46
Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases. 61
33100777 2020
47
Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108. 61
32674526 2020
48
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A. 61
32676143 2020
49
Paralysis Caused by Spinal Cord Injury After Posterior Fossa Surgery: A Systematic Review. 61
32305599 2020
50
In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses 61
32631021 2020

Variations for Morquio Syndrome

ClinVar genetic disease variations for Morquio Syndrome:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GALNS NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) SNV Pathogenic 703 rs118204438 GRCh37: 16:88907485-88907485
GRCh38: 16:88841077-88841077
2 GALNS NM_000512.5(GALNS):c.498del (p.Phe167fs) Deletion Pathogenic 633232 rs772656696 GRCh37: 16:88904098-88904098
GRCh38: 16:88837690-88837690
3 GALNS NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) SNV Pathogenic 708 rs118204443 GRCh37: 16:88898507-88898507
GRCh38: 16:88832099-88832099
4 GALNS NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) SNV Pathogenic 281018 rs199638097 GRCh37: 16:88909219-88909219
GRCh38: 16:88842811-88842811
5 GALNS NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) SNV Pathogenic 928751 GRCh37: 16:88907476-88907476
GRCh38: 16:88841068-88841068
6 GALNS NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) SNV Pathogenic 711 rs118204449 GRCh37: 16:88902202-88902202
GRCh38: 16:88835794-88835794
7 GALNS NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) SNV Pathogenic 569803 rs200374326 GRCh37: 16:88907491-88907491
GRCh38: 16:88841083-88841083
8 GALNS NM_000512.5(GALNS):c.953T>G (p.Met318Arg) SNV Pathogenic 199031 rs746756997 GRCh37: 16:88898455-88898455
GRCh38: 16:88832047-88832047
9 GALNS NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) SNV Pathogenic 521930 rs1209154325 GRCh37: 16:88909119-88909119
GRCh38: 16:88842711-88842711
10 GALNS NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) SNV Pathogenic 713 rs118204446 GRCh37: 16:88898473-88898473
GRCh38: 16:88832065-88832065
11 GALNS NM_000512.5(GALNS):c.1171A>G (p.Met391Val) SNV Pathogenic 93162 rs398123429 GRCh37: 16:88891246-88891246
GRCh38: 16:88824838-88824838
12 GALNS NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) SNV Pathogenic 700 rs118204437 GRCh37: 16:88891261-88891261
GRCh38: 16:88824853-88824853
13 GALNS NM_000512.5(GALNS):c.899-2A>G SNV Likely pathogenic 633231 rs1165218506 GRCh37: 16:88898511-88898511
GRCh38: 16:88832103-88832103
14 GALNS NM_000512.5(GALNS):c.499T>G (p.Phe167Val) SNV Likely pathogenic 321204 rs148565559 GRCh37: 16:88904097-88904097
GRCh38: 16:88837689-88837689
15 GALNS NM_000512.5(GALNS):c.489del (p.Asn164fs) Deletion Likely pathogenic 643109 rs1328983959 GRCh37: 16:88904107-88904107
GRCh38: 16:88837699-88837699
16 GALNS NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) SNV Likely pathogenic 198426 rs761385192 GRCh37: 16:88902151-88902151
GRCh38: 16:88835743-88835743
17 GALNS NM_000512.5(GALNS):c.850T>G (p.Phe284Val) SNV Likely pathogenic 321200 rs144067930 GRCh37: 16:88901669-88901669
GRCh38: 16:88835261-88835261
18 GALNS NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) SNV Uncertain significance 321191 rs142822371 GRCh37: 16:88889114-88889114
GRCh38: 16:88822706-88822706
19 GALNS NM_000512.5(GALNS):c.*3C>G SNV Uncertain significance 321187 rs77826920 GRCh37: 16:88880844-88880844
GRCh38: 16:88814436-88814436
20 GALNS NM_000512.5(GALNS):c.400G>A (p.Val134Ile) SNV Uncertain significance 321206 rs886052457 GRCh37: 16:88907422-88907422
GRCh38: 16:88841014-88841014
21 GLB1 NM_001135602.2(GLB1):c.-73C>T SNV Uncertain significance 344800 rs530326876 GRCh37: 3:33138650-33138650
GRCh38: 3:33097158-33097158
22 GLB1 NM_000404.4(GLB1):c.1603C>G (p.His535Asp) SNV Uncertain significance 344785 rs886058341 GRCh37: 3:33055679-33055679
GRCh38: 3:33014187-33014187
23 GLB1 NM_000404.4(GLB1):c.1735-15TC[7] Microsatellite Uncertain significance 344783 rs745361874 GRCh37: 3:33038839-33038840
GRCh38: 3:32997347-32997348
24 GLB1 , TMPPE NM_000404.4(GLB1):c.-35T>G SNV Uncertain significance 344798 rs886058344 GRCh37: 3:33138612-33138612
GRCh38: 3:33097120-33097120
25 GALNS NM_000512.5(GALNS):c.*236C>T SNV Uncertain significance 321180 rs189375208 GRCh37: 16:88880611-88880611
GRCh38: 16:88814203-88814203
26 GALNS NM_000512.5(GALNS):c.*287T>C SNV Uncertain significance 321178 rs776880179 GRCh37: 16:88880560-88880560
GRCh38: 16:88814152-88814152
27 GALNS NM_000512.5(GALNS):c.*123G>C SNV Uncertain significance 321184 rs886052453 GRCh37: 16:88880724-88880724
GRCh38: 16:88814316-88814316
28 GALNS NM_000512.5(GALNS):c.*207G>T SNV Uncertain significance 321182 rs886052452 GRCh37: 16:88880640-88880640
GRCh38: 16:88814232-88814232
29 GALNS , APRT NM_000485.2(APRT):c.-50C>A SNV Likely benign 369134 rs8191469 GRCh37: 16:88878357-88878357
GRCh38: 16:88811949-88811949
30 APRT , GALNS NM_000512.5(GALNS):c.*224C>G SNV Likely benign 321181 rs111233947 GRCh37: 16:88880623-88880623
GRCh38: 16:88814215-88814215
31 GALNS , APRT NM_000485.3(APRT):c.*182A>G SNV Likely benign 321155 rs8191498 GRCh37: 16:88875924-88875924
GRCh38: 16:88809516-88809516
32 APRT , GALNS NM_000512.5(GALNS):c.*524G>C SNV Likely benign 321174 rs3759946 GRCh37: 16:88880323-88880323
GRCh38: 16:88813915-88813915
33 GALNS , APRT NM_000485.3(APRT):c.*47T>C SNV Likely benign 321161 rs8191497 GRCh37: 16:88876059-88876059
GRCh38: 16:88809651-88809651
34 GALNS , APRT NM_000485.3(APRT):c.90G>T (p.Ser30=) SNV Likely benign 321167 rs8191472 GRCh37: 16:88878055-88878055
GRCh38: 16:88811647-88811647
35 APRT , GALNS NM_000512.5(GALNS):c.*296A>G SNV Likely benign 321177 rs79507351 GRCh37: 16:88880551-88880551
GRCh38: 16:88814143-88814143
36 GALNS , APRT NM_000485.3(APRT):c.*3A>G SNV Likely benign 321162 rs2070256 GRCh37: 16:88876103-88876103
GRCh38: 16:88809695-88809695
37 GALNS , APRT NM_000485.3(APRT):c.97C>T (p.Leu33=) SNV Likely benign 321166 rs8191473 GRCh37: 16:88878048-88878048
GRCh38: 16:88811640-88811640
38 APRT , GALNS NM_000512.5(GALNS):c.*36G>A SNV Benign 256330 rs11076715 GRCh37: 16:88880811-88880811
GRCh38: 16:88814403-88814403
39 APRT , GALNS NM_000512.5(GALNS):c.*652A>G SNV Benign 321169 rs1135366 GRCh37: 16:88880195-88880195
GRCh38: 16:88813787-88813787
40 GALNS , APRT NM_000485.3(APRT):c.*178A>G SNV Benign 321156 rs4695 GRCh37: 16:88875928-88875928
GRCh38: 16:88809520-88809520
41 APRT , GALNS NM_000512.5(GALNS):c.*611A>G SNV Benign 321170 rs1135364 GRCh37: 16:88880236-88880236
GRCh38: 16:88813828-88813828
42 APRT , GALNS NM_000512.5(GALNS):c.*367T>C SNV Benign 321176 rs1141390 GRCh37: 16:88880480-88880480
GRCh38: 16:88814072-88814072
43 APRT , GALNS NM_000512.5(GALNS):c.*701C>G SNV Benign 321168 rs77936719 GRCh37: 16:88880146-88880146
GRCh38: 16:88813738-88813738

Expression for Morquio Syndrome

Search GEO for disease gene expression data for Morquio Syndrome.

Pathways for Morquio Syndrome

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 extracellular region GO:0005576 9.8 NEU1 GUSB GLB1 GALNS CTSA APRT
2 extracellular exosome GO:0070062 9.73 NEU1 GUSB GLB1 GALNS CTSA APRT
3 intracellular membrane-bounded organelle GO:0043231 9.67 NEU1 GUSB GLB1 CTSA
4 lysosome GO:0005764 9.55 NEU1 GUSB GLB1 GALNS CTSA
5 azurophil granule lumen GO:0035578 9.26 GUSB GLB1 GALNS CTSA
6 lysosomal lumen GO:0043202 9.02 NEU1 GUSB GLB1 GALNS CTSA

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.54 NEU1 GUSB GLB1
2 metabolic process GO:0008152 9.43 NEU1 GUSB GLB1
3 glycosaminoglycan catabolic process GO:0006027 9.32 GUSB GLB1
4 keratan sulfate catabolic process GO:0042340 9.16 GLB1 GALNS
5 glycosphingolipid metabolic process GO:0006687 9.13 NEU1 GLB1 CTSA
6 neutrophil degranulation GO:0043312 9.1 NEU1 GUSB GLB1 GALNS CTSA APRT

Molecular functions related to Morquio Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.32 GUSB GLB1
2 sulfuric ester hydrolase activity GO:0008484 9.26 GALNS ARSH
3 hydrolase activity GO:0016787 9.17 TMPPE NEU1 GUSB GLB1 GALNS CTSA
4 arylsulfatase activity GO:0004065 9.16 GALNS ARSH
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 NEU1 GUSB GLB1

Sources for Morquio Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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