MCID: MCP004
MIFTS: 59

Mucopolysaccharidosis Iv

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

Aliases & Classifications for Mucopolysaccharidosis Iv

MalaCards integrated aliases for Mucopolysaccharidosis Iv:

Name: Mucopolysaccharidosis Iv 38 12 44 15 73
Mucopolysaccharidosis, Mps-Iv-a 12 29 6 73
Mucopolysaccharidosis Type Iv 53 25 59 37
Mucopolysaccharidosis Type Iva 12 24 53
Mucopolysaccharidosis Type 4 76 53 59
Morquio a Disease 12 24 53
Morquio Disease 53 25 59
Galactosamine-6-Sulfatase Deficiency 12 53
Mucopolysaccharidosis Type Ivb 12 73
Morquio Syndrome a 12 53
Galns Deficiency 53 73
Mps Iva 24 53
Mpsiv 53 59
Mps4 53 59
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency 53
Deficiency of N-Acetylgalactosamine-6-Sulphatase 12
Deficiency of Chondroitinsulphatase 12
Mucopolysaccharidosis, Mps-Iv 12
Mucopolysaccharidosis Type 4a 53
Mps Iv - Morquio Syndrome a 12
Mps Iv - Morquio Syndrome B 12
Morquio-Brailsford Disease 25
Mucopolysaccharidosis Iv 25
Morquio Syndrome Type a 24
Morquio Disease Type a 53
Chondroosteodystrophy 12
Osteochondrodystrophy 12
Morquio's Syndrome 25
Morquio's Disease 25
Morquios Syndrome 55
Morquio Syndrome 25
Mps Iv a 55
Mps 4a 53
Mpsiva 53
Mps Iv 25
Mps4a 53

Characteristics:

Orphanet epidemiological data:

59
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:



Summaries for Mucopolysaccharidosis Iv

NIH Rare Diseases : 53 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.

MalaCards based summary : Mucopolysaccharidosis Iv, also known as mucopolysaccharidosis, mps-iv-a, is related to mucopolysaccharidosis, type iva and morquio syndrome, 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 Teriparatide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are wide mouth and macrocephaly

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

GeneReviews: NBK148668

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
Mucopolysaccharidosis Type 2, Severe Form

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iva 31.8 ARSH GALNS
2 morquio syndrome 31.6 APRT GALNS GLB1
3 osteochondrodysplasia 11.4
4 dyggve-melchior-clausen disease 11.3
5 spondyloepiphyseal dysplasia with congenital joint dislocations 11.1
6 mucopolysaccharidosis, type ivb 11.0
7 dermochondrocorneal dystrophy of françois 11.0
8 mucopolysaccharidosis, type ii 10.1 ARSH GALNS
9 mucopolysaccharidosis type vi 10.0 ARSH GALNS
10 mucopolysaccharidosis, type vii 10.0 GALNS GLB1
11 inclusion-cell disease 9.8 CTSA GLB1
12 gangliosidosis gm2 9.8 CTSA GLB1
13 mucolipidosis ii alpha/beta 9.8 ARSH NEU1
14 cataract 9.7
15 adenine phosphoribosyltransferase deficiency 9.7 APRT GALNS
16 gangliosidosis gm1 9.6 GALNS GLB1 NEU1
17 multiple sulfatase deficiency 9.6 ARSH GALNS
18 sphingolipidosis 9.5 CTSA GLB1
19 scheie syndrome 9.4 CTSA GALNS GLB1
20 mucolipidosis iv 9.4 CTSA GALNS GLB1
21 glycoproteinosis 9.3 CTSA GLB1 NEU1
22 galactosialidosis 9.3 CTSA GLB1 NEU1
23 tay-sachs disease 9.3 CTSA GLB1 NEU1
24 mucopolysaccharidosis-plus syndrome 9.3 APRT ARSH GALNS
25 lysosomal storage disease 8.9 CTSA GALNS GLB1 NEU1

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:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
2 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
3 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
4 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
5 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
6 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
7 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
8 grayish enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000683
9 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
10 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
11 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
12 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
13 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
14 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
15 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
16 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
17 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
18 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
19 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
20 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
21 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
22 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
23 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
24 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
25 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
26 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
27 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
28 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
29 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
30 hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100790
31 abnormality of the dentition 59 Very frequent (99-80%)
32 abnormality of the heart valves 59 Frequent (79-30%)
33 bowing of the long bones 59 Very frequent (99-80%)
34 abnormality of dental enamel 59 Frequent (79-30%)
35 abnormal heart valve morphology 32 frequent (33%) HP:0001654

UMLS symptoms related to Mucopolysaccharidosis Iv:


ulnar deviation of the wrist

MGI Mouse Phenotypes related to Mucopolysaccharidosis Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 APRT CTSA GALNS GLB1 NEU1

Drugs & Therapeutics for Mucopolysaccharidosis Iv

Drugs for Mucopolysaccharidosis Iv (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 143)
# 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 Mucopolysaccharidosis Iv

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


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Iv cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Iv:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Iv:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

Cochrane evidence based reviews: mucopolysaccharidosis iv

Genetic Tests for Mucopolysaccharidosis Iv

Genetic tests related to Mucopolysaccharidosis Iv:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis, Mps-Iv-a 29 GALNS

Anatomical Context for Mucopolysaccharidosis Iv

MalaCards organs/tissues related to Mucopolysaccharidosis Iv:

41
Bone, Heart, Eye, Skin, Brain, Bone Marrow, T Cells

Publications for Mucopolysaccharidosis Iv

Articles related to Mucopolysaccharidosis Iv:

(show all 17)
# Title Authors Year
1
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study. ( 28315965 )
2017
2
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A. ( 22940367 )
2012
3
A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis. ( 12763346 )
2003
4
Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery. ( 10408824 )
1999
5
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. ( 10202296 )
1999
6
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. ( 8020961 )
1994
7
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. ( 8325655 )
1993
8
Cataracts in Morquio syndrome (mucopolysaccharidosis IV A). ( 8233358 )
1993
9
Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A). ( 2119328 )
1990
10
Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). ( 3121219 )
1987
11
Ultrastructure of lymphocytes and skin in mucopolysaccharidosis IV A (Morquio syndrome). ( 6792941 )
1981
12
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. ( 6446239 )
1980
13
Hearing patterns in Morquio's syndrome (mucopolysaccharidosis IV). ( 409383 )
1977
14
The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies. ( 810613 )
1975
15
Oral findings in the Morquio syndrome (mucopolysaccharidosis IV). ( 803669 )
1975
16
Mucopolysaccharidosis IV (MorquiAPs disease) in a twenty-months old child. ( 5004678 )
1971
17
Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV). ( 4229430 )
1968

Variations for Mucopolysaccharidosis Iv

ClinVar genetic disease variations for Mucopolysaccharidosis Iv:

6
(show top 50) (show all 265)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNS NM_000512.4(GALNS): c.612C> G (p.Asn204Lys) single nucleotide variant Pathogenic rs118204435 GRCh37 Chromosome 16, 88902630: 88902630
2 GALNS NM_000512.4(GALNS): c.612C> G (p.Asn204Lys) single nucleotide variant Pathogenic rs118204435 GRCh38 Chromosome 16, 88836222: 88836222
3 GALNS NM_000512.4(GALNS): c.413T> C (p.Val138Ala) single nucleotide variant Pathogenic rs118204436 GRCh37 Chromosome 16, 88907409: 88907409
4 GALNS NM_000512.4(GALNS): c.413T> C (p.Val138Ala) single nucleotide variant Pathogenic rs118204436 GRCh38 Chromosome 16, 88841001: 88841001
5 GALNS NM_000512.4(GALNS): c.1156C> T (p.Arg386Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118204437 GRCh37 Chromosome 16, 88891261: 88891261
6 GALNS NM_000512.4(GALNS): c.1156C> T (p.Arg386Cys) single nucleotide variant Pathogenic/Likely pathogenic rs118204437 GRCh38 Chromosome 16, 88824853: 88824853
7 GALNS NM_000512.4(GALNS): c.1460A> G (p.Asn487Ser) single nucleotide variant Pathogenic rs118204440 GRCh37 Chromosome 16, 88884437: 88884437
8 GALNS NM_000512.4(GALNS): c.1460A> G (p.Asn487Ser) single nucleotide variant Pathogenic rs118204440 GRCh38 Chromosome 16, 88818029: 88818029
9 GALNS GALNS, 2-BP DEL, 1343CA deletion Pathogenic
10 GALNS NM_000512.4(GALNS): c.337A> T (p.Ile113Phe) single nucleotide variant Pathogenic rs118204438 GRCh37 Chromosome 16, 88907485: 88907485
11 GALNS NM_000512.4(GALNS): c.337A> T (p.Ile113Phe) single nucleotide variant Pathogenic rs118204438 GRCh38 Chromosome 16, 88841077: 88841077
12 GALNS NM_000512.4(GALNS): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs118204439 GRCh37 Chromosome 16, 88884480: 88884480
13 GALNS NM_000512.4(GALNS): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs118204439 GRCh38 Chromosome 16, 88818072: 88818072
14 GALNS NM_000512.4(GALNS): c.280C> G (p.Arg94Gly) single nucleotide variant Pathogenic rs118204441 GRCh37 Chromosome 16, 88908344: 88908344
15 GALNS NM_000512.4(GALNS): c.280C> G (p.Arg94Gly) single nucleotide variant Pathogenic rs118204441 GRCh38 Chromosome 16, 88841936: 88841936
16 GALNS NM_000512.4(GALNS): c.776G> A (p.Arg259Gln) single nucleotide variant Pathogenic rs118204442 GRCh37 Chromosome 16, 88901743: 88901743
17 GALNS NM_000512.4(GALNS): c.776G> A (p.Arg259Gln) single nucleotide variant Pathogenic rs118204442 GRCh38 Chromosome 16, 88835335: 88835335
18 GALNS NM_000512.4(GALNS): c.871G> A (p.Ala291Thr) single nucleotide variant Pathogenic rs118204448 GRCh37 Chromosome 16, 88901648: 88901648
19 GALNS NM_000512.4(GALNS): c.871G> A (p.Ala291Thr) single nucleotide variant Pathogenic rs118204448 GRCh38 Chromosome 16, 88835240: 88835240
20 GALNS NM_000512.4(GALNS): c.901G> T (p.Gly301Cys) single nucleotide variant Pathogenic rs118204443 GRCh37 Chromosome 16, 88898507: 88898507
21 GALNS NM_000512.4(GALNS): c.901G> T (p.Gly301Cys) single nucleotide variant Pathogenic rs118204443 GRCh38 Chromosome 16, 88832099: 88832099
22 GALNS NM_000512.4(GALNS): c.485C> T (p.Ser162Phe) single nucleotide variant Pathogenic rs118204444 GRCh37 Chromosome 16, 88904111: 88904111
23 GALNS NM_000512.4(GALNS): c.485C> T (p.Ser162Phe) single nucleotide variant Pathogenic rs118204444 GRCh38 Chromosome 16, 88837703: 88837703
24 GALNS NM_000512.4(GALNS): c.205T> G (p.Phe69Val) single nucleotide variant Pathogenic rs118204445 GRCh37 Chromosome 16, 88909153: 88909153
25 GALNS NM_000512.4(GALNS): c.205T> G (p.Phe69Val) single nucleotide variant Pathogenic rs118204445 GRCh38 Chromosome 16, 88842745: 88842745
26 GALNS NM_000512.4(GALNS): c.689G> A (p.Trp230Ter) single nucleotide variant Pathogenic rs118204449 GRCh37 Chromosome 16, 88902202: 88902202
27 GALNS NM_000512.4(GALNS): c.689G> A (p.Trp230Ter) single nucleotide variant Pathogenic rs118204449 GRCh38 Chromosome 16, 88835794: 88835794
28 GALNS GALNS, 1-BP DEL, 1374T deletion Pathogenic
29 GALNS NM_000512.4(GALNS): c.935C> G (p.Thr312Ser) single nucleotide variant Pathogenic rs118204446 GRCh37 Chromosome 16, 88898473: 88898473
30 GALNS NM_000512.4(GALNS): c.935C> G (p.Thr312Ser) single nucleotide variant Pathogenic rs118204446 GRCh38 Chromosome 16, 88832065: 88832065
31 GALNS NM_000512.4(GALNS): c.178G> A (p.Asp60Asn) single nucleotide variant Pathogenic rs118204447 GRCh37 Chromosome 16, 88909180: 88909180
32 GALNS NM_000512.4(GALNS): c.178G> A (p.Asp60Asn) single nucleotide variant Pathogenic rs118204447 GRCh38 Chromosome 16, 88842772: 88842772
33 GALNS NM_000512.4(GALNS): c.1019G> A (p.Gly340Asp) single nucleotide variant Pathogenic rs267606838 GRCh37 Chromosome 16, 88893230: 88893230
34 GALNS NM_000512.4(GALNS): c.1019G> A (p.Gly340Asp) single nucleotide variant Pathogenic rs267606838 GRCh38 Chromosome 16, 88826822: 88826822
35 GALNS NM_000512.4(GALNS): c.1171A> G (p.Met391Val) single nucleotide variant Pathogenic rs398123429 GRCh37 Chromosome 16, 88891246: 88891246
36 GALNS NM_000512.4(GALNS): c.1171A> G (p.Met391Val) single nucleotide variant Pathogenic rs398123429 GRCh38 Chromosome 16, 88824838: 88824838
37 GALNS NM_000512.4(GALNS): c.1175C> T (p.Ala392Val) single nucleotide variant Pathogenic rs398123430 GRCh37 Chromosome 16, 88891242: 88891242
38 GALNS NM_000512.4(GALNS): c.1175C> T (p.Ala392Val) single nucleotide variant Pathogenic rs398123430 GRCh38 Chromosome 16, 88824834: 88824834
39 GALNS NM_000512.4(GALNS): c.1559G> A (p.Trp520Ter) single nucleotide variant Pathogenic rs372893383 GRCh37 Chromosome 16, 88880857: 88880857
40 GALNS NM_000512.4(GALNS): c.1559G> A (p.Trp520Ter) single nucleotide variant Pathogenic rs372893383 GRCh38 Chromosome 16, 88814449: 88814449
41 GALNS NM_000512.4(GALNS): c.405_422+1del19 deletion Pathogenic rs398123437 GRCh37 Chromosome 16, 88907399: 88907417
42 GALNS NM_000512.4(GALNS): c.405_422+1del19 deletion Pathogenic rs398123437 GRCh38 Chromosome 16, 88840991: 88841009
43 GALNS NM_000512.4(GALNS): c.463G> A (p.Gly155Arg) single nucleotide variant Pathogenic rs398123438 GRCh37 Chromosome 16, 88904133: 88904133
44 GALNS NM_000512.4(GALNS): c.463G> A (p.Gly155Arg) single nucleotide variant Pathogenic rs398123438 GRCh38 Chromosome 16, 88837725: 88837725
45 GALNS NM_000512.4(GALNS): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs398123439 GRCh37 Chromosome 16, 88904119: 88904119
46 GALNS NM_000512.4(GALNS): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs398123439 GRCh38 Chromosome 16, 88837711: 88837711
47 GALNS NM_000512.4(GALNS): c.704C> A (p.Thr235Lys) single nucleotide variant Likely pathogenic rs398123440 GRCh37 Chromosome 16, 88902187: 88902187
48 GALNS NM_000512.4(GALNS): c.704C> A (p.Thr235Lys) single nucleotide variant Likely pathogenic rs398123440 GRCh38 Chromosome 16, 88835779: 88835779
49 GALNS NM_000512.4(GALNS): c.542A> G (p.Tyr181Cys) single nucleotide variant Pathogenic rs786205899 GRCh38 Chromosome 16, 88837646: 88837646
50 GALNS NM_000512.4(GALNS): c.542A> G (p.Tyr181Cys) single nucleotide variant Pathogenic rs786205899 GRCh37 Chromosome 16, 88904054: 88904054

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:

37
# 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
13.48 APRT ARSH CTSA GALNS GLB1 NEU1
2
Show member pathways
13.4 APRT CTSA GALNS GLB1 NEU1
3
Show member pathways
12.5 CTSA GLB1 NEU1
4
Show member pathways
11.72 CTSA GLB1 NEU1
5
Show member pathways
11.66 ARSH CTSA GLB1 NEU1
6 11.01 CTSA GALNS GLB1 NEU1
7
Show member pathways
10.62 GALNS GLB1
8 10.41 GLB1 NEU1

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 exosome GO:0070062 9.72 APRT CTSA GALNS GLB1 NEU1
2 extracellular region GO:0005576 9.65 APRT CTSA GALNS GLB1 NEU1
3 azurophil granule lumen GO:0035578 9.33 CTSA GALNS GLB1
4 lysosome GO:0005764 9.26 CTSA GALNS GLB1 NEU1
5 lysosomal lumen GO:0043202 8.92 CTSA GALNS GLB1 NEU1

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.46 ARSH GALNS GLB1 NEU1
2 neutrophil degranulation GO:0043312 9.35 APRT CTSA GALNS GLB1 NEU1
3 keratan sulfate catabolic process GO:0042340 9.26 GALNS GLB1
4 glycosphingolipid metabolic process GO:0006687 8.92 ARSH CTSA GLB1 NEU1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.35 ARSH CTSA GALNS GLB1 NEU1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 GLB1 NEU1
3 sulfuric ester hydrolase activity GO:0008484 9.16 ARSH GALNS
4 exo-alpha-sialidase activity GO:0004308 8.8 CTSA GLB1 NEU1

Sources for Mucopolysaccharidosis Iv

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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