MPS4
MCID: MCP004
MIFTS: 61

Mucopolysaccharidosis Iv (MPS4)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis Iv

MalaCards integrated aliases for Mucopolysaccharidosis Iv:

Name: Mucopolysaccharidosis Iv 12 15 70
Mucopolysaccharidosis Type Iv 20 43 58 36
Mucopolysaccharidosis Type 4 73 20 58
Morquio Disease 20 43 58
Mpsiv 20 58
Mps4 20 58
Deficiency of N-Acetylgalactosamine-6-Sulphatase 12
Galactosamine-6-Sulfatase Deficiency 12
Deficiency of Chondroitinsulphatase 12
Mucopolysaccharidosis, Mps-Iv-a 70
Mucopolysaccharidosis Type Ivb 70
Mucopolysaccharidosis, Type Iv 6
Mucopolysaccharidosis, Mps-Iv 12
Morquio-Brailsford Disease 43
Mucopolysaccharidosis Iv 43
Chondroosteodystrophy 12
Osteochondrodystrophy 12
Morquio's Syndrome 43
Morquio's Disease 43
Galns Deficiency 70
Morquio Syndrome 43
Mps Iv 43

Characteristics:

Orphanet epidemiological data:

58
mucopolysaccharidosis type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Sweden),1-9/100000 (Sweden),1-9/1000000 (Norway),1-5/10000 (Norway),1-9/1000000 (Denmark),1-5/10000 (Denmark),1-9/1000000 (Germany),1-9/100000 (Ireland),1-9/1000000 (Czech Republic),1-9/1000000 (Canada),1-9/1000000 (Tunisia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Netherlands),1-9/1000000 (Poland); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12804
KEGG 36 H00123
MeSH 44 D009085
NCIt 50 C61263
SNOMED-CT 67 378007
ICD10 32 E76.219
MESH via Orphanet 45 D009085
ICD10 via Orphanet 33 E76.2
UMLS via Orphanet 71 C0026707 C0086651
Orphanet 58 ORPHA582
UMLS 70 C0026707 C0086651 C0086652 more

Summaries for Mucopolysaccharidosis Iv

MedlinePlus Genetics : 43 Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.The first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process. The odontoid process helps stabilize the spinal bones in the neck (cervical vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical vertebrae, which may compress and damage the spinal cord, resulting in paralysis or death.In people with MPS IV, the clear covering of the eye (cornea) typically becomes cloudy, which can cause vision loss. Some affected individuals have recurrent ear infections and hearing loss. The airway may become narrow in some people with MPS IV, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.The life expectancy of individuals with MPS IV depends on the severity of symptoms. Severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Spinal cord compression and airway obstruction are major causes of death in people with MPS IV.

MalaCards based summary : Mucopolysaccharidosis Iv, also known as mucopolysaccharidosis type iv, is related to morquio syndrome and odontochondrodysplasia, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis Iv is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Pharmaceutical Solutions and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and bone, and related phenotypes are gait disturbance and short neck

Disease Ontology : 12 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

GARD : 20 Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various signs and symptoms associated with the condition. Affected people generally develop features of MPS IV between the ages of 1 and 3. These signs and symptoms may include abnormalities of the skeleton, eyes, heart and respiratory system. There are two forms of MPS IV: MPS IVA is caused by changes ( mutations ) in the GALNS gene. MPS IVB is caused by mutations in the GLB1 gene. Both forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition, coarse faces, and dysostosis multiplex.

Wikipedia : 73 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Related Diseases for Mucopolysaccharidosis Iv

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv

Diseases related to Mucopolysaccharidosis Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 morquio syndrome 31.9 TMPPE GUSB GLB1 GALNS CTSA APRT
2 odontochondrodysplasia 31.9 IDUA GUSB GALNS CRTAP
3 mucopolysaccharidosis, type ivb 31.1 TMPPE SUMF1 SGSH NAGLU IDUA IDS
4 mucopolysaccharidosis, type iva 30.5 TRAPPC2L SUMF1 SGSH OPRM1 NAGLU M6PR
5 gm1-gangliosidosis, type iii 30.5 TMPPE GLB1
6 gm1-gangliosidosis, type i 30.5 TMPPE GLB1 GALC
7 gm1-gangliosidosis, type ii 30.4 TMPPE IDS GLB1 CTSA
8 mucopolysaccharidoses 30.2 SGSH NAGLU IDUA GUSB ARSB
9 gangliosidosis 30.2 TMPPE GLB1 GALNS CTSA
10 glycoproteinosis 30.2 GLB1 GALNS CTSA ARSB
11 adenine phosphoribosyltransferase deficiency 30.1 GALNS APRT
12 galactosialidosis 30.0 M6PR IDUA GLB1 GALNS CTSA
13 fabry disease 30.0 M6PR GUSB GLA
14 mucolipidosis 30.0 SUMF1 M6PR IDUA GLB1 GALNS CTSA
15 hydrops fetalis, nonimmune 29.9 GUSB CTSA
16 gaucher's disease 29.9 M6PR IDUA GUSB GLA GALC
17 mucopolysaccharidosis-plus syndrome 29.7 SUMF1 SGSH NAGLU M6PR IDUA IDS
18 sphingolipidosis 29.6 SUMF1 SGSH M6PR IDUA GLB1 GLA
19 hurler syndrome 29.5 SUMF1 NAGLU IDUA IDS GUSB GNS
20 lysosomal storage disease 29.3 SUMF1 SGSH NAGLU M6PR IDUA IDS
21 gm1 gangliosidosis 29.2 TMPPE SUMF1 SGSH NAGLU M6PR IDUA
22 mucopolysaccharidosis iii 29.2 SUMF1 SGSH NAGLU M6PR IDUA IDS
23 morquio syndrome c 11.6
24 spondyloepiphyseal dysplasia, maroteaux type 11.5
25 spondyloepiphyseal dysplasia with congenital joint dislocations 11.1
26 pectus carinatum 11.0
27 dermochondrocorneal dystrophy 11.0
28 cerebral lipidosis 10.3 M6PR GLB1
29 kluver-bucy syndrome 10.3 SGSH NAGLU
30 mongolian spot 10.3 NAGLU IDUA GLB1
31 mannosidosis, alpha b, lysosomal 10.3 SGSH IDUA GUSB
32 leukodystrophy 10.2 SUMF1 IDUA GALC ARSB
33 multiple sulfatase deficiency 10.2 SUMF1 GNS GALNS ARSB
34 odontoid hypoplasia 10.2
35 niemann-pick disease, type a 10.2 IDUA GLA GALC
36 nephrolithiasis, calcium oxalate 10.2 NAGLU IDUA APRT
37 skin hemangioma 10.2 GLA CTSA
38 fucosidosis 10.2 NAGLU IDUA GLB1 GALNS ARSB
39 niemann-pick disease 10.2 M6PR GLA GALC
40 mucolipidosis iii alpha/beta 10.2 NAGLU M6PR GUSB ARSB
41 ceroid lipofuscinosis, neuronal, 3 10.2 SUMF1 SGSH NAGLU M6PR
42 dwarfism 10.2
43 lipid storage disease 10.2 GLB1 GLA GALC
44 angiokeratoma 10.2 GLA CTSA
45 mucolipidosis ii alpha/beta 10.1 NAGLU M6PR IDUA GUSB GALNS
46 hurler-scheie syndrome 10.1 SUMF1 SGSH NAGLU IDUA GALNS ARSB
47 aspartylglucosaminuria 10.1 M6PR CTSA
48 paraplegia 10.1
49 mucopolysaccharidosis, type iiid 10.0 SUMF1 SGSH NAGLU IDUA IDS GNS
50 tay-sachs disease 10.0 SGSH M6PR IDUA IDS GLB1 GLA

Graphical network of the top 20 diseases related to Mucopolysaccharidosis Iv:



Diseases related to Mucopolysaccharidosis Iv

Symptoms & Phenotypes for Mucopolysaccharidosis Iv

Human phenotypes related to Mucopolysaccharidosis Iv:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
6 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 mucopolysacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008155
9 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
10 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
11 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
12 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
13 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
14 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
15 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
16 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
18 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
19 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
20 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
21 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
22 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
23 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
24 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
25 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
26 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
27 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
28 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
29 grayish enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000683
30 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
31 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
32 bowing of the long bones 58 Very frequent (99-80%)
33 abnormality of the dentition 58 Very frequent (99-80%)
34 abnormality of dental enamel 58 Frequent (79-30%)

UMLS symptoms related to Mucopolysaccharidosis Iv:


ulnar deviation of the wrist

MGI Mouse Phenotypes related to Mucopolysaccharidosis Iv:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.47 APRT ARSB CTSA GALC GLA GLB1
2 cellular MP:0005384 10.42 ARSB CTSA GALC GALNS GLA GLB1
3 growth/size/body region MP:0005378 10.4 APRT ARSB CRTAP CTSA GALC GLA
4 hematopoietic system MP:0005397 10.39 APRT ARSB CTSA GALC GLB1 GNS
5 homeostasis/metabolism MP:0005376 10.31 APRT ARSB CTSA GALC GALNS GLA
6 immune system MP:0005387 10.29 APRT CTSA GALC GLA GLB1 GNS
7 cardiovascular system MP:0005385 10.26 ARSB CTSA GALC GLA IDUA M6PR
8 mortality/aging MP:0010768 10.21 APRT CTSA GALC GLA GLB1 GNS
9 craniofacial MP:0005382 10.19 ARSB CTSA GALC GUSB IDS IDUA
10 nervous system MP:0003631 10.1 ARSB GALC GLA GLB1 GNS IDS
11 renal/urinary system MP:0005367 10.07 APRT ARSB CTSA GALC GALNS GLA
12 integument MP:0010771 10.06 APRT CTSA GUSB IDS IDUA NAGLU
13 liver/biliary system MP:0005370 10.06 CTSA GALC GLA GLB1 IDS IDUA
14 limbs/digits/tail MP:0005371 9.98 ARSB GALC GUSB IDS IDUA SGSH
15 reproductive system MP:0005389 9.85 APRT ARSB CTSA GLB1 GUSB IDS
16 skeleton MP:0005390 9.77 ARSB CRTAP GALC GALNS GLB1 GUSB
17 vision/eye MP:0005391 9.28 ARSB GALC GALNS GLA IDS IDUA

Drugs & Therapeutics for Mucopolysaccharidosis Iv

Drugs for Mucopolysaccharidosis Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show all 28)
# 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 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/Week and 2.0 mg/kg/Every Other Week BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
4 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
5 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
6 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
7 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
8 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
9 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
10 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
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 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
14 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
15 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
16 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
17 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
18 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
19 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
20 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
23 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]
24 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329
25 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
26 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
27 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
28 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Mucopolysaccharidosis Iv

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


ELOSULFASE ALFA

Genetic Tests for Mucopolysaccharidosis Iv

Anatomical Context for Mucopolysaccharidosis Iv

MalaCards organs/tissues related to Mucopolysaccharidosis Iv:

40
Eye, Spinal Cord, Bone, Heart, Skin, Globus Pallidus, Brain

Publications for Mucopolysaccharidosis Iv

Articles related to Mucopolysaccharidosis Iv:

(show top 50) (show all 228)
# Title Authors PMID Year
1
GALNS mutations in Indian patients with mucopolysaccharidosis IVA. 6 61
25252036 2014
2
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A. 6 61
25287660 2014
3
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A. 6 61
22940367 2012
4
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. 6 61
22521955 2012
5
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses. 6
31905715 2019
6
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. 6
30980944 2019
7
Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe. 6
30927141 2019
8
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene. 6
30797135 2019
9
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families. 6
30458289 2019
10
Clinical implementation of gene panel testing for lysosomal storage diseases. 6
30548430 2019
11
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. 6
30675867 2019
12
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. 6
30555092 2018
13
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. 6
30267299 2018
14
Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation. 6
30094185 2018
15
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 6
29439846 2018
16
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. 6
28976722 2018
17
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 6
29352662 2018
18
Voice alterations in patients with Morquio A syndrome. 6
29275451 2018
19
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. 6
29731656 2018
20
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 6
29160035 2018
21
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 6
29451896 2018
22
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. 6
28844463 2017
23
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. 6
28716012 2017
24
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
25
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease. 6
27825773 2017
26
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. 6
27750150 2017
27
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 6
27679996 2016
28
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 6
26646981 2016
29
Recurrent and novel GLB1 mutations in India. 6
25936995 2015
30
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations. 6
25545067 2015
31
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
32
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 6
25443580 2015
33
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 6
25600812 2015
34
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. 6
26147980 2015
35
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
36
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 6
26108645 2015
37
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
38
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. 6
25137622 2014
39
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. 6
24773188 2014
40
Overcoming the barriers to diagnosis of Morquio A syndrome. 6
25433535 2014
41
In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA. 6
25501214 2014
42
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 6
24777551 2014
43
An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network. 6
25364648 2014
44
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 6
24726177 2014
45
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
46
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients. 6
24411403 2014
47
Molecular genetic assay of mucopolysaccharidosis IVA in South China. 6
24035930 2013
48
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 6
23831247 2013
49
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. 6
23876334 2013
50
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]. 6
24120057 2013

Variations for Mucopolysaccharidosis Iv

ClinVar genetic disease variations for Mucopolysaccharidosis Iv:

6 (show top 50) (show all 537)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GALNS GALNS, 2-BP DEL, 1343CA Deletion Pathogenic 702 GRCh37:
GRCh38:
2 GALNS GALNS, 1-BP DEL, 1374T Deletion Pathogenic 712 GRCh37:
GRCh38:
3 GALNS NM_000512.5(GALNS):c.952A>G (p.Met318Val) SNV Pathogenic 523005 rs537013895 GRCh37: 16:88898456-88898456
GRCh38: 16:88832048-88832048
4 GALNS NC_000016.10:g.(?_88826682)_(88826858_?)del Deletion Pathogenic 830431 GRCh37: 16:88893090-88893266
GRCh38:
5 GALNS NC_000016.10:g.(?_88822569)_(88842849_?)del Deletion Pathogenic 831598 GRCh37: 16:88888977-88909257
GRCh38:
6 GALNS NC_000016.10:g.(?_88837602)_(88842849_?)del Deletion Pathogenic 831954 GRCh37: 16:88904010-88909257
GRCh38:
7 GALNS NM_000512.5(GALNS):c.899-2A>C SNV Pathogenic 944266 GRCh37: 16:88898511-88898511
GRCh38: 16:88832103-88832103
8 GALNS NM_000512.5(GALNS):c.1241dup (p.Ile416fs) Duplication Pathogenic 873053 GRCh37: 16:88891175-88891176
GRCh38: 16:88824767-88824768
9 GALNS NC_000016.10:g.(?_88840972)_(88842849_?)del Deletion Pathogenic 655224 GRCh37: 16:88907380-88909257
GRCh38: 16:88840972-88842849
10 GALNS and overlap with 1 gene(s) NC_000016.10:g.(?_88814419)_(88856897_?)del Deletion Pathogenic 528326 GRCh37: 16:88880827-88923305
GRCh38: 16:88814419-88856897
11 GALNS , TRAPPC2L NC_000016.10:g.(?_88856738)_(88856897_?)del Deletion Pathogenic 528327 GRCh37: 16:88923146-88923305
GRCh38: 16:88856738-88856897
12 GLB1 NM_000404.4(GLB1):c.818G>T (p.Trp273Leu) SNV Pathogenic 931 rs72555362 GRCh37: 3:33093471-33093471
GRCh38: 3:33051979-33051979
13 GLB1 NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) SNV Pathogenic 933 rs72555363 GRCh37: 3:33055755-33055755
GRCh38: 3:33014263-33014263
14 GLB1 NM_000404.4(GLB1):c.247T>C (p.Tyr83His) SNV Pathogenic 937 rs72555364 GRCh37: 3:33110461-33110461
GRCh38: 3:33068969-33068969
15 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
16 GLB1 NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) SNV Pathogenic 943 rs72555369 GRCh37: 3:33063068-33063068
GRCh38: 3:33021576-33021576
17 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
18 GLB1 NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) SNV Pathogenic 938 rs72555365 GRCh37: 3:33058236-33058236
GRCh38: 3:33016744-33016744
19 GALNS , TRAPPC2L NM_000512.5(GALNS):c.118G>C (p.Asp40His) SNV Pathogenic 847815 GRCh37: 16:88923168-88923168
GRCh38: 16:88856760-88856760
20 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
21 GLB1 NM_000404.4(GLB1):c.443G>A (p.Arg148His) SNV Pathogenic 522884 rs745864233 GRCh37: 3:33109736-33109736
GRCh38: 3:33068244-33068244
22 GLB1 NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) SNV Pathogenic 528328 rs564428355 GRCh37: 3:33059962-33059962
GRCh38: 3:33018470-33018470
23 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
24 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
25 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
26 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
27 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Pathogenic 284172 rs376663785 GRCh37: 3:33093481-33093481
GRCh38: 3:33051989-33051989
28 GLB1 NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) Indel Pathogenic 568792 rs1559401428 GRCh37: 3:33093471-33093472
GRCh38: 3:33051979-33051980
29 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 GRCh37: 3:33038803-33038803
GRCh38: 3:32997311-32997311
30 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
31 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Pathogenic 284172 rs376663785 GRCh37: 3:33093481-33093481
GRCh38: 3:33051989-33051989
32 GLB1 NM_000404.4(GLB1):c.1480-2A>G SNV Pathogenic 946 rs587776526 GRCh37: 3:33055804-33055804
GRCh38: 3:33014312-33014312
33 GLB1 NM_000404.4(GLB1):c.553-1G>C SNV Pathogenic 639100 rs1575459735 GRCh37: 3:33099762-33099762
GRCh38: 3:33058270-33058270
34 GLB1 NM_000404.4(GLB1):c.1697C>A (p.Pro566His) SNV Pathogenic 645125 rs1575410340 GRCh37: 3:33055585-33055585
GRCh38: 3:33014093-33014093
35 GLB1 NM_000404.4(GLB1):c.163del (p.Ile55fs) Deletion Pathogenic 657106 rs1575475703 GRCh37: 3:33114118-33114118
GRCh38: 3:33072626-33072626
36 GLB1 NC_000003.12:g.(?_33097001)_(33097095_?)del Deletion Pathogenic 832564 GRCh37: 3:33138493-33138587
GRCh38:
37 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
38 GLB1 NM_000404.4(GLB1):c.1077del (p.Val360fs) Deletion Pathogenic 167146 rs727503952 GRCh37: 3:33065809-33065809
GRCh38: 3:33024317-33024317
39 GLB1 NM_000404.4(GLB1):c.531_534del (p.Gly178fs) Deletion Pathogenic 837229 GRCh37: 3:33106973-33106976
GRCh38: 3:33065481-33065484
40 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
41 GLB1 NM_000404.4(GLB1):c.1292_1293CT[3] (p.Ser433fs) Microsatellite Pathogenic 842879 GRCh37: 3:33059988-33059989
GRCh38: 3:33018496-33018497
42 GLB1 NM_000404.4(GLB1):c.694dup (p.Ala232fs) Duplication Pathogenic 552535 rs1553611025 GRCh37: 3:33099619-33099620
GRCh38: 3:33058127-33058128
43 GLB1 NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) SNV Pathogenic 551496 rs780724173 GRCh37: 3:33059966-33059966
GRCh38: 3:33018474-33018474
44 GLB1 NM_000404.4(GLB1):c.1480-2A>G SNV Pathogenic 946 rs587776526 GRCh37: 3:33055804-33055804
GRCh38: 3:33014312-33014312
45 GLB1 NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) SNV Pathogenic 496895 rs756878418 GRCh37: 3:33114106-33114106
GRCh38: 3:33072614-33072614
46 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
47 GLB1 NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) SNV Pathogenic 854615 GRCh37: 3:33093274-33093274
GRCh38: 3:33051782-33051782
48 GLB1 NM_000404.4(GLB1):c.1077del (p.Val360fs) Deletion Pathogenic 167146 rs727503952 GRCh37: 3:33065809-33065809
GRCh38: 3:33024317-33024317
49 GLB1 NM_000404.4(GLB1):c.733+1G>A SNV Pathogenic 553125 rs1041204916 GRCh37: 3:33099580-33099580
GRCh38: 3:33058088-33058088
50 GLB1 NM_000404.4(GLB1):c.495_497del (p.Leu166del) Deletion Pathogenic 684406 rs754077128 GRCh37: 3:33107010-33107012
GRCh38: 3:33065518-33065520

Expression for Mucopolysaccharidosis Iv

Search GEO for disease gene expression data for Mucopolysaccharidosis Iv.

Pathways for Mucopolysaccharidosis Iv

Pathways related to Mucopolysaccharidosis Iv according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

Pathways related to Mucopolysaccharidosis Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 SUMF1 SGSH NAGLU IDUA IDS GUSB
2
Show member pathways
12.61 SGSH NAGLU IDUA IDS GUSB GNS
3
Show member pathways
12.21 SUMF1 GLB1 GLA GALC CTSA ARSB
4
Show member pathways
12.21 SGSH NAGLU IDUA IDS GUSB GLB1
5 11.58 SUMF1 SGSH NAGLU M6PR IDUA IDS
6
Show member pathways
10.91 SGSH NAGLU IDUA IDS GUSB GNS

GO Terms for Mucopolysaccharidosis Iv

Cellular components related to Mucopolysaccharidosis Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.02 GUSB GNS GLB1 GLA GALNS CTSA
2 extracellular exosome GO:0070062 10 SGSH NAGLU IDUA GUSB GNS GLB1
3 lysosomal lumen GO:0043202 9.73 SGSH NAGLU IDUA IDS GUSB GNS
4 azurophil granule lumen GO:0035578 9.7 GUSB GNS GLB1 GLA GALNS CTSA
5 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
6 lysosome GO:0005764 9.44 SGSH NAGLU M6PR IDUA IDS GUSB

Biological processes related to Mucopolysaccharidosis Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.76 GUSB GNS GLB1 GLA GALNS CTSA
2 metabolic process GO:0008152 9.73 NAGLU IDUA GUSB GLB1 GLA GALC
3 carbohydrate metabolic process GO:0005975 9.71 IDUA GUSB GLB1 GLA
4 chondroitin sulfate catabolic process GO:0030207 9.54 IDUA IDS ARSB
5 keratan sulfate catabolic process GO:0042340 9.5 GNS GLB1 GALNS
6 negative regulation of nitric oxide biosynthetic process GO:0045019 9.48 OPRM1 GLA
7 lysosomal transport GO:0007041 9.46 M6PR ARSB
8 glycosaminoglycan metabolic process GO:0030203 9.43 SGSH GNS
9 glycosphingolipid metabolic process GO:0006687 9.35 SUMF1 GLB1 GLA GALC CTSA
10 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS GUSB GNS

Molecular functions related to Mucopolysaccharidosis Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.87 SGSH IDS GNS GLA GALNS GALC
2 hydrolase activity GO:0016787 9.77 TMPPE SGSH NAGLU IDUA IDS GUSB
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.63 NAGLU IDUA GUSB GLB1 GLA GALC
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.56 IDUA GUSB GLB1 GLA
5 glycosaminoglycan binding GO:0005539 9.48 SGSH GNS
6 arylsulfatase activity GO:0004065 9.46 GALNS ARSB
7 galactoside binding GO:0016936 9.43 GLB1 GLA
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.4 SGSH GNS
9 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 GALNS ARSB
10 sulfuric ester hydrolase activity GO:0008484 9.02 SGSH IDS GNS GALNS ARSB

Sources for Mucopolysaccharidosis Iv

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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