MCID: MCP004
MIFTS: 60

Mucopolysaccharidosis Iv

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

Aliases & Classifications for Mucopolysaccharidosis Iv

MalaCards integrated aliases for Mucopolysaccharidosis Iv:

Name: Mucopolysaccharidosis Iv 37 12 41 14 69
Mucopolysaccharidosis Type Iv 49 24 55 36
Mucopolysaccharidosis, Mps-Iv-a 12 28 69
Mucopolysaccharidosis Type Iva 12 23 49
Mucopolysaccharidosis Type 4 72 49 55
Morquio a Disease 12 23 49
Morquio Disease 49 24 55
Galactosamine-6-Sulfatase Deficiency 12 49
Mucopolysaccharidosis Type Ivb 12 69
Morquio Syndrome a 12 49
Galns Deficiency 49 69
Mps Iva 23 49
Mpsiv 49 55
Mps4 49 55
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency 49
Deficiency of N-Acetylgalactosamine-6-Sulphatase 12
Deficiency of Chondroitinsulphatase 12
Mucopolysaccharidosis, Mps-Iv 12
Mucopolysaccharidosis Type 4a 49
Mps Iv - Morquio Syndrome a 12
Mps Iv - Morquio Syndrome B 12
Morquio-Brailsford Disease 24
Mucopolysaccharidosis Iv 24
Morquio Syndrome Type a 23
Morquio Disease Type a 49
Chondroosteodystrophy 12
Osteochondrodystrophy 12
Morquio's Syndrome 24
Morquio's Disease 24
Morquios Syndrome 51
Morquio Syndrome 24
Mps Iv a 51
Mps 4a 49
Mpsiva 49
Mps Iv 24
Mps4a 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 7/30/2017

MalaCards based summary : Mucopolysaccharidosis Iv, also known as mucopolysaccharidosis type iv, is related to mucopolysaccharidosis, type iva and mucopolysaccharidosis-plus syndrome, and has symptoms including wide mouth, macrocephaly and coarse facial features. 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 Alendronate and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotype is renal/urinary system.

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.

Genetics Home Reference : 24 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.

Wikipedia : 72 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 24)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iva 31.7 ARSH GALNS
2 mucopolysaccharidosis-plus syndrome 29.8 APRT ARSH GALNS
3 morquio syndrome c 12.3
4 morquio syndrome 11.4
5 spondyloepiphyseal dysplasia with congenital joint dislocations 11.1
6 osteochondrodysplasia 11.1
7 mucopolysaccharidosis, type ivb 11.0
8 dermochondrocorneal dystrophy of françois 11.0
9 mucopolysaccharidosis type vi 10.1 ARSH GALNS
10 mucopolysaccharidosis, type ii 10.1 ARSH GALNS
11 mucopolysaccharidosis, type vii 10.0 GALNS GLB1
12 mucolipidosis ii alpha/beta 9.9 ARSH NEU1
13 gangliosidosis gm2 9.9 CTSA GLB1
14 inclusion-cell disease 9.9 CTSA GLB1
15 mucolipidosis iv 9.8 CTSA GLB1
16 cataract 9.7
17 gangliosidosis gm1 9.7 GALNS GLB1 NEU1
18 sphingolipidosis 9.7 CTSA GLB1
19 multiple sulfatase deficiency 9.7 ARSH GALNS
20 tay-sachs disease 9.7 CTSA NEU1
21 scheie syndrome 9.6 CTSA GALNS GLB1
22 galactosialidosis 9.6 CTSA GLB1 NEU1
23 glycoproteinosis 9.6 CTSA GLB1 NEU1
24 lysosomal storage disease 9.3 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:

55 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
2 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
3 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
4 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
5 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
6 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
7 carious teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000670
8 grayish enamel 55 31 frequent (33%) Frequent (79-30%) HP:0000683
9 pectus carinatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000768
10 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
11 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
12 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
13 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
14 joint dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0001373
15 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
16 coxa valga 55 31 frequent (33%) Frequent (79-30%) HP:0002673
17 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
18 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
19 genu valgum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002857
20 spinal canal stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0003416
21 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
22 reduced bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004349
23 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
24 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
25 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
26 hyperlordosis 55 31 frequent (33%) Frequent (79-30%) HP:0003307
27 mucopolysacchariduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0008155
28 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
29 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
30 hernia 55 31 frequent (33%) Frequent (79-30%) HP:0100790
31 abnormality of the dentition 55 Very frequent (99-80%)
32 abnormality of the heart valves 55 Frequent (79-30%)
33 bowing of the long bones 55 Very frequent (99-80%)
34 abnormality of dental enamel 55 Frequent (79-30%)
35 abnormal heart valve morphology 31 frequent (33%) HP:0001654

UMLS symptoms related to Mucopolysaccharidosis Iv:


ulnar deviation of the wrist

MGI Mouse Phenotypes related to Mucopolysaccharidosis Iv:

43
# 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 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1 40391-99-9 4674
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Antiviral Agents Phase 4,Phase 2,Phase 3
10 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
12 Interferon-gamma Phase 4,Phase 3,Phase 2
13 interferons Phase 4,Phase 3,Phase 2
14 Ergocalciferols Phase 4
15 Micronutrients Phase 4,Phase 3
16 Trace Elements Phase 4,Phase 3
17 Vitamins Phase 4,Phase 3,Phase 2
18 Anti-Bacterial Agents Phase 4
19 Gentamicins Phase 4
20 diuretics Phase 4
21 Natriuretic Agents Phase 4,Phase 3,Phase 2
22 Sodium Chloride Symporter Inhibitors Phase 4
23 Vaccines Phase 4
24 Calciferol Nutraceutical Phase 4
25 Vitamin D2 Nutraceutical Phase 4
26
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
27
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
28
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
29
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
30
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
31
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
32
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
33
Etidronic acid Approved Phase 2, Phase 3 2809-21-4, 7414-83-7 3305
34
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
35
Denosumab Approved Phase 3,Phase 2 615258-40-7
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
37
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
38
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
39 Alkylating Agents Phase 2, Phase 3, Phase 1
40 Antifungal Agents Phase 2, Phase 3,Phase 1
41 Antilymphocyte Serum Phase 2, Phase 3
42 Antimetabolites Phase 2, Phase 3
43 Antimetabolites, Antineoplastic Phase 2, Phase 3
44 Antirheumatic Agents Phase 2, Phase 3, Phase 1
45 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
46 Cyclosporins Phase 2, Phase 3,Phase 1
47 Dermatologic Agents Phase 2, Phase 3,Phase 1
48 Folic Acid Antagonists Phase 2, Phase 3
49 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
50 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 137)

# Name Status NCT ID Phase Drugs
1 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4 Actimmune Registry
2 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
3 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
4 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
5 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
6 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
7 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
8 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
9 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
10 A Randomised Study to Compare Metal Ion Release and Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-Metal or a Metal-on-Metal Bearing Terminated NCT00873444 Phase 4
11 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
12 A Two Centre Study to Assess the Stability and Long-term Performance of the C-Stem™ AMT in a Total Primary Hip Replacement Terminated NCT00872573 Phase 4
13 Multi-Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Resurfacing and Primary Total Hip Replacement Terminated NCT00872547 Phase 4
14 A Single Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-ceramic Bearing in Primary Total Hip Replacement Terminated NCT00872222 Phase 4
15 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
16 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
17 A Two Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Metal-on-Metal Bearing in Primary Total Hip Replacement Terminated NCT00208364 Phase 4
18 A Multi-centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Polyethylene-on-metal Bearing in Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
19 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
20 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen);Cyclosporin, Methotrexate (GVHD prophylaxis)
21 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
22 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
23 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
24 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
25 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
26 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
27 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
28 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
29 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
30 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
31 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
32 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
33 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
34 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
35 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
36 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
37 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
38 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
39 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
40 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
41 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
42 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
43 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
44 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
45 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
46 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
47 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
48 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
49 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
50 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg

Search NIH Clinical Center for Mucopolysaccharidosis Iv

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 GALNS

Anatomical Context for Mucopolysaccharidosis Iv

MalaCards organs/tissues related to Mucopolysaccharidosis Iv:

38
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
Cataracts in Morquio syndrome (mucopolysaccharidosis IV A). ( 8233358 )
1993
8
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. ( 8325655 )
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 all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALNS NM_000512.4(GALNS): c.1019G> A (p.Gly340Asp) single nucleotide variant Pathogenic rs267606838 GRCh37 Chromosome 16, 88893230: 88893230
2 GALNS NM_000512.4(GALNS): c.1171A> G (p.Met391Val) single nucleotide variant Pathogenic rs398123429 GRCh37 Chromosome 16, 88891246: 88891246
3 GALNS NM_000512.4(GALNS): c.1175C> T (p.Ala392Val) single nucleotide variant Pathogenic rs398123430 GRCh37 Chromosome 16, 88891242: 88891242
4 GALNS NM_000512.4(GALNS): c.1559G> A (p.Trp520Ter) single nucleotide variant Pathogenic rs372893383 GRCh37 Chromosome 16, 88880857: 88880857
5 GALNS NM_000512.4(GALNS): c.463G> A (p.Gly155Arg) single nucleotide variant Pathogenic rs398123438 GRCh37 Chromosome 16, 88904133: 88904133
6 GALNS NM_000512.4(GALNS): c.477G> A (p.Trp159Ter) single nucleotide variant Pathogenic rs398123439 GRCh37 Chromosome 16, 88904119: 88904119
7 GALNS NM_000512.4(GALNS): c.542A> G (p.Tyr181Cys) single nucleotide variant Pathogenic rs786205899 GRCh38 Chromosome 16, 88837646: 88837646
8 GALNS NM_000512.4(GALNS): c.421T> A (p.Trp141Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727625 GRCh37 Chromosome 16, 88907401: 88907401
9 GALNS NM_000512.4(GALNS): c.953T> G (p.Met318Arg) single nucleotide variant Pathogenic rs746756997 GRCh37 Chromosome 16, 88898455: 88898455
10 GALNS NM_000512.4(GALNS): c.612C> G (p.Asn204Lys) single nucleotide variant Pathogenic rs118204435 GRCh37 Chromosome 16, 88902630: 88902630
11 GALNS NM_000512.4(GALNS): c.413T> C (p.Val138Ala) single nucleotide variant Pathogenic rs118204436 GRCh37 Chromosome 16, 88907409: 88907409
12 GALNS NM_000512.4(GALNS): c.1156C> T (p.Arg386Cys) single nucleotide variant Pathogenic rs118204437 GRCh37 Chromosome 16, 88891261: 88891261
13 GALNS NM_000512.4(GALNS): c.1460A> G (p.Asn487Ser) single nucleotide variant Pathogenic rs118204440 GRCh37 Chromosome 16, 88884437: 88884437
14 GALNS GALNS, 2-BP DEL, 1343CA deletion Pathogenic
15 GALNS NM_000512.4(GALNS): c.337A> T (p.Ile113Phe) single nucleotide variant Pathogenic rs118204438 GRCh37 Chromosome 16, 88907485: 88907485
16 GALNS NM_000512.4(GALNS): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs118204439 GRCh37 Chromosome 16, 88884480: 88884480
17 GALNS NM_000512.4(GALNS): c.280C> G (p.Arg94Gly) single nucleotide variant Pathogenic rs118204441 GRCh37 Chromosome 16, 88908344: 88908344
18 GALNS NM_000512.4(GALNS): c.776G> A (p.Arg259Gln) single nucleotide variant Pathogenic rs118204442 GRCh37 Chromosome 16, 88901743: 88901743
19 GALNS NM_000512.4(GALNS): c.871G> A (p.Ala291Thr) single nucleotide variant Pathogenic rs118204448 GRCh37 Chromosome 16, 88901648: 88901648
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.485C> T (p.Ser162Phe) single nucleotide variant Pathogenic rs118204444 GRCh37 Chromosome 16, 88904111: 88904111
22 GALNS NM_000512.4(GALNS): c.205T> G (p.Phe69Val) single nucleotide variant Pathogenic rs118204445 GRCh37 Chromosome 16, 88909153: 88909153
23 GALNS NM_000512.4(GALNS): c.689G> A (p.Trp230Ter) single nucleotide variant Pathogenic rs118204449 GRCh37 Chromosome 16, 88902202: 88902202
24 GALNS GALNS, 1-BP DEL, 1374T deletion Pathogenic
25 GALNS NM_000512.4(GALNS): c.935C> G (p.Thr312Ser) single nucleotide variant Pathogenic rs118204446 GRCh37 Chromosome 16, 88898473: 88898473
26 GALNS NM_000512.4(GALNS): c.178G> A (p.Asp60Asn) single nucleotide variant Pathogenic rs118204447 GRCh37 Chromosome 16, 88909180: 88909180
27 GALNS NM_000512.4(GALNS): c.898+1G> C single nucleotide variant Pathogenic rs761850746 GRCh37 Chromosome 16, 88901620: 88901620
28 GALNS NM_000512.4(GALNS): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs199638097 GRCh37 Chromosome 16, 88909219: 88909219
29 GALNS NM_000512.4(GALNS): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs781439830 GRCh38 Chromosome 16, 88837737: 88837737

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
13.48 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
11.79 CTSA GLB1 NEU1
5
Show member pathways
11.66 ARSH CTSA GLB1 NEU1
6 11.01 CTSA GALNS GLB1 NEU1
7
Show member pathways
10.56 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 9.55 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 8.96 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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