MPS4A
MCID: MCP047
MIFTS: 61

Mucopolysaccharidosis, Type Iva (MPS4A)

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

Aliases & Classifications for Mucopolysaccharidosis, Type Iva

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iva:

Name: Mucopolysaccharidosis, Type Iva 56 39
Galns Deficiency 56 12 52 58 73 71
Galactosamine-6-Sulfatase Deficiency 56 74 52 58 73
Mucopolysaccharidosis Iva 56 12 29 13 15
Morquio a Disease 56 12 24 52 73
Mps Iva 56 12 24 52 73
Mps4a 56 12 52 58 73
Mucopolysaccharidosis Type Iva 24 52 58 73
Morquio Syndrome a 56 12 52 73
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency 52 58
Mucopolysaccharidosis Type 4a 52 58
Morquio Disease Type a 52 58
Mpsiva 52 58
Mucopolysaccharidosis, Mps-Iv-a 71
Mucopolysaccharidosis Iv 43
Mucopolysaccharidosis 4a 73
Morquio Disease, Type a 74
Morquio Syndrome Type a 24
Morquio's Syndrome a 73
Mps Iv a 54
Mps 4a 52

Characteristics:

Orphanet epidemiological data:

58
mucopolysaccharidosis type 4a
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/1000000 (Canada),1-9/1000000 (Germany),1-9/100000 (United Arab Emirates),1-9/1000000 (United Arab Emirates),1-9/1000000 (Australia),1-9/1000000 (Sweden); Age of onset: Childhood; Age of death: adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
appear normal at birth
onset between 1-3 years


HPO:

31
mucopolysaccharidosis, type iva:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111391
OMIM 56 253000
OMIM Phenotypic Series 56 PS607014
MeSH 43 D009085
NCIt 49 C84901
SNOMED-CT 67 7259005
ICD10 32 E76.210
ICD10 via Orphanet 33 E76.2
UMLS via Orphanet 72 C0086651 C3179194
Orphanet 58 ORPHA309297
MedGen 41 C0086651
UMLS 71 C0086651 C3179194

Summaries for Mucopolysaccharidosis, Type Iva

OMIM : 56 Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008). McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., 183900) and multiple epiphyseal dysplasia (see, e.g., 132400). Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity. (253000)

MalaCards based summary : Mucopolysaccharidosis, Type Iva, also known as galns deficiency, is related to gangliosidosis and morquio syndrome, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis, Type Iva is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Losartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and bone, and related phenotypes are coarse facial features and hearing impairment

Disease Ontology : 12 A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has material basis in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3.

NIH Rare Diseases : 52 Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome , type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Signs and symptoms include various skeletal abnormalities such as short stature , knock knees, pectus carinatum , and malformations of the spine, hips and wrists. Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease , hearing impairment, corneal clouding , dental abnormalities, hepatomegaly , and spinal cord compression. MPS IVA is caused by changes (mutations ) in the GALNS gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 73 Mucopolysaccharidosis 4A: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.

Wikipedia : 74 Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in... more...

GeneReviews: NBK148668

Related Diseases for Mucopolysaccharidosis, Type Iva

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, Type Iva via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis 30.7 GLB1 GALNS
2 morquio syndrome 30.7 GUSB GLB1 GALNS ARSH
3 glycoproteinosis 30.4 GLB1 GALNS ARSH
4 mucopolysaccharidosis, type ivb 30.4 SGSH NAGLU IDUA IDS GNS GLB1
5 spondyloepiphyseal dysplasia with congenital joint dislocations 30.3 GALNS ARSH
6 mucopolysaccharidoses 30.2 NAGLU IDUA GUSB ARSH ARSB
7 fucosidosis 29.8 NAGLU IDUA GLB1 GALNS ARSH
8 glycogen storage disease ii 29.7 M6PR IGF2R IDUA
9 mannosidosis, alpha b, lysosomal 29.6 IGF2R IDUA GUSB ARSA
10 galactosialidosis 29.5 M6PR IDUA GLB1 GALNS ARSH
11 hydrocephalus 29.4 SUMF1 ARSH ARSB ARSA
12 aspartylglucosaminuria 29.3 M6PR IGF2R IDUA ARSA
13 gaucher disease, type i 28.9 IDUA GALC ARSH ARSA
14 mucolipidosis 28.8 SUMF1 M6PR IGF2R GALNS ARSH ARSA
15 gm1 gangliosidosis 28.5 IDUA GLB1 GALNS GALC ARSH ARSA
16 multiple sulfatase deficiency 28.4 SUMF1 SGSH IDS GNS GALNS ARSH
17 mucopolysaccharidosis-plus syndrome 26.1 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
18 lysosomal storage disease 25.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
19 mucopolysaccharidosis iv 24.6 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
20 morquio syndrome c 11.5
21 autosomal recessive disease 10.5
22 urolithiasis 10.4
23 chronic granulomatous disease 10.4
24 dihydroxyadeninuria 10.4
25 pectus carinatum 10.4
26 sleep apnea 10.3
27 glb1-related disorders 10.3
28 dysostosis 10.2
29 lysosomal storage disease with skeletal involvement 10.2
30 gm1-gangliosidosis, type i 10.2 GLB1 ARSA
31 bartter disease 10.1
32 gm1-gangliosidosis, type ii 10.1 IDS GLB1 GALNS
33 coxa vara 10.1
34 legg-calve-perthes disease 10.1
35 protrusio acetabuli 10.1
36 astigmatism 10.1
37 odontoid hypoplasia 10.1
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
39 infective endocarditis 10.1
40 tracheomalacia 10.1
41 heart valve disease 10.1
42 cataract 10.1
43 hip subluxation 10.1
44 spinal cord injury 10.1
45 avascular necrosis 10.1
46 kluver-bucy syndrome 10.1 SGSH NAGLU
47 mongolian spot 10.1 NAGLU IDUA GLB1
48 adenine phosphoribosyltransferase deficiency 10.1
49 scoliosis 10.1
50 sensorineural hearing loss 10.1

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Iva:



Diseases related to Mucopolysaccharidosis, Type Iva

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iva

Human phenotypes related to Mucopolysaccharidosis, Type Iva:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 HP:0000280
2 hearing impairment 31 HP:0000365
3 hepatomegaly 31 HP:0002240
4 inguinal hernia 31 HP:0000023
5 scoliosis 31 HP:0002650
6 kyphosis 31 HP:0002808
7 mandibular prognathia 31 HP:0000303
8 widely spaced teeth 31 HP:0000687
9 carious teeth 31 HP:0000670
10 abnormal heart valve morphology 31 HP:0001654
11 recurrent upper respiratory tract infections 31 HP:0002788
12 genu valgum 31 HP:0002857
13 ovoid vertebral bodies 31 HP:0003300
14 disproportionate short-trunk short stature 31 HP:0003521
15 opacification of the corneal stroma 31 HP:0007759
16 hyperlordosis 31 HP:0003307
17 restrictive ventilatory defect 31 HP:0002091
18 osteoporosis 31 HP:0000939
19 joint laxity 31 HP:0001388
20 wide mouth 31 HP:0000154
21 platyspondyly 31 HP:0000926
22 coxa valga 31 HP:0002673
23 ulnar deviation of the wrist 31 HP:0003049
24 hypoplasia of the odontoid process 31 HP:0003311
25 prominent sternum 31 HP:0000884
26 grayish enamel 31 HP:0000683
27 metaphyseal widening 31 HP:0003016
28 large elbow 31 HP:0030865
29 keratan sulfate excretion in urine 31 HP:0012069
30 cervical myelopathy 31 HP:0002318
31 cervical subluxation 31 HP:0003308
32 flaring of rib cage 31 HP:0000904
33 pointed proximal second through fifth metacarpals 31 HP:0001223
34 epiphyseal deformities of tubular bones 31 HP:0003053
35 constricted iliac wings 31 HP:0003277
36 chondroitin sulfate excretion in urine 31 HP:0012070

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia

Head And Neck Teeth:
widely spaced teeth
grayish enamel
frequent caries

Skeletal:
osteoporosis

Chest Ribs Sternum Clavicles And Scapulae:
prominent sternum
flaring of rib cage

Skeletal Hands:
pointed proximal second through fifth metacarpals

Head And Neck Face:
prognathism
coarse facial features, mild

Head And Neck Eyes:
corneal opacities

Head And Neck Mouth:
broad mouth

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Laboratory Abnormalities:
n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes
keratan sulfate excretion in urine that decreases with age
chondroitin 6-sulfate excretion in urine

Skeletal Spine:
scoliosis
kyphosis
ovoid vertebral bodies
hyperlordosis
platyspondyly
more
Skeletal Limbs:
genu valgum
joint laxity
ulnar deviation of the wrist
epiphyseal deformities of tubular bones
widened metaphyses

Skeletal Pelvis:
coxa valga
constricted iliac wings

Neurologic Central Nervous System:
cervical myelopathy
normal intelligence

Head And Neck Ears:
hearing loss

Respiratory Lung:
restrictive lung disease

Cardiovascular Heart:
valvular heart disease

Growth Height:
short-trunked dwarfism
adult height 82 to 115 cm

Abdomen Liver:
hepatomegaly, mild

Clinical features from OMIM:

253000

UMLS symptoms related to Mucopolysaccharidosis, Type Iva:


ulnar deviation of the wrist

GenomeRNAi Phenotypes related to Mucopolysaccharidosis, Type Iva according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 9.6 IGF2R
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.6 IGF2R
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.6 IDS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 9.6 IDS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 IDS IGF2R
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.6 ARSA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.6 ARSA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.6 IDS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.6 IDS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.6 IGF2R
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.6 IDS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 IDS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 9.6 IDS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.6 IDS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.6 IGF2R
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.6 ARSA
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.6 IDS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.6 IGF2R

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iva:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 ARSA ARSB GALC GLB1 GNS GUSB
2 cellular MP:0005384 10.36 ARSB GALC GALNS GLB1 GNS GUSB
3 hematopoietic system MP:0005397 10.27 ARSA ARSB GALC GLB1 GNS GUSB
4 growth/size/body region MP:0005378 10.26 ARSB GALC GLB1 GUSB IDS IDUA
5 homeostasis/metabolism MP:0005376 10.22 ARSA ARSB GALC GALNS GLB1 GUSB
6 craniofacial MP:0005382 10.19 ARSB GALC GUSB IDS IDUA IGF2R
7 immune system MP:0005387 10.11 ARSA GALC GLB1 GNS IDS IDUA
8 mortality/aging MP:0010768 10.11 GALC GLB1 GNS GUSB IDS IDUA
9 nervous system MP:0003631 10.06 ARSA ARSB GALC GLB1 GNS IDS
10 limbs/digits/tail MP:0005371 10.03 ARSB GALC GUSB IDS IDUA IGF2R
11 liver/biliary system MP:0005370 10.01 GALC GLB1 IDS IDUA IGF2R NAGLU
12 renal/urinary system MP:0005367 10 ARSB GALC GALNS GLB1 GUSB IDS
13 hearing/vestibular/ear MP:0005377 9.91 ARSA ARSB GUSB IDUA NAGLU
14 reproductive system MP:0005389 9.76 ARSB GLB1 GUSB IDS IDUA IGF2R
15 skeleton MP:0005390 9.73 ARSB GALC GALNS GLB1 GUSB IDS
16 vision/eye MP:0005391 9.17 ARSB GALC GALNS IDS IDUA NAGLU

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iva

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

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

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 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
3 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
4 A Multicenter Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01966029 Phase 3 BMN 110
5 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
6 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
7 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
8 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
9 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
10 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
11 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
12 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
13 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
14 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
15 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
16 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
17 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
18 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
19 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
20 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 Recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069
23 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
24 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329
25 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
26 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
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, Type Iva

Cochrane evidence based reviews: mucopolysaccharidosis iv

Genetic Tests for Mucopolysaccharidosis, Type Iva

Genetic tests related to Mucopolysaccharidosis, Type Iva:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Iva 29

Anatomical Context for Mucopolysaccharidosis, Type Iva

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iva:

40
Heart, Spinal Cord, Bone, Brain, Eye, Lung, Liver

Publications for Mucopolysaccharidosis, Type Iva

Articles related to Mucopolysaccharidosis, Type Iva:

(show top 50) (show all 171)
# Title Authors PMID Year
1
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. 56 6 61
9298823 1997
2
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations. 6 56
20574428 2010
3
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations. 24 56
25545067 2015
4
Growth charts for patients affected with Morquio A disease. 56 24
18412124 2008
5
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 56 24
16287098 2005
6
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. 24 6
9521421 1998
7
Mild manifestations of the Morquio syndrome. 56 24
6431819 1984
8
Morquio syndrome: clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB. 56 24
6793501 1981
9
Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement. 56 61
24478273 2014
10
Mucopolysaccharidosis Type IVA 61 6
23844448 2013
11
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. 56 61
10479485 1999
12
Clinical, biochemical and molecular findings in a two-generation Morquio A family. 61 6
9660054 1998
13
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS). 61 56
7607677 1995
14
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. 61 6
1522213 1992
15
Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment. 56
29526614 2018
16
Epidemiology of mucopolysaccharidoses. 56
28595941 2017
17
Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions? 56
24953405 2015
18
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. 56
25582974 2015
19
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. 56
25496828 2015
20
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. 56
24810369 2014
21
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. 24 61
22358740 2013
22
Intellectual and neurological functioning in Morquio syndrome (MPS IVa). 61 24
22231379 2013
23
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. 24 61
21506915 2011
24
Enzyme replacement therapy in a murine model of Morquio A syndrome. 56
18056156 2008
25
Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. 56
16922718 2006
26
Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA). 24 61
16539564 2006
27
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. 6
15309681 2004
28
Incidence of the mucopolysaccharidoses in Western Australia. 56
14608657 2003
29
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. 56
14583446 2003
30
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. 6
12721840 2003
31
Genetic landmarks through philately: Luís Morquio 1867-1935. 56
12485190 2002
32
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. 56
10814710 2000
33
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. 6
9385378 1997
34
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. 56
9375852 1997
35
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. 56
8651279 1996
36
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. 56
8829629 1996
37
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. 6
7668283 1995
38
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). 6
7581409 1995
39
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. 56
8325655 1993
40
Fetal presentation of Morquio disease type A. 56
1287637 1992
41
Luis Morquio (1867-1935). 56
1505567 1992
42
An update on the frequency of mucopolysaccharide syndromes in British Columbia. 56
2118475 1990
43
Glaucoma in siblings with Morquio syndrome. 56
2116163 1990
44
Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings. 56
3129221 1988
45
Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings. 56
3129222 1988
46
Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia. 56
3129223 1988
47
Heterogeneity of Morquio disease. 56
3087664 1986
48
Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi. 56
3939537 1985
49
Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A. 56
6427747 1984
50
Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. 56
6224421 1983

Variations for Mucopolysaccharidosis, Type Iva

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iva:

6 (show top 50) (show all 190) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALNS NM_000512.5(GALNS):c.952A>G (p.Met318Val)SNV Pathogenic 523005 rs537013895 16:88898456-88898456 16:88832048-88832048
2 GALNS NC_000016.10:g.(?_88814419)_(88856897_?)deldeletion Pathogenic 528326 16:88880827-88923305 16:88814419-88856897
3 GALNS NC_000016.10:g.(?_88856738)_(88856897_?)deldeletion Pathogenic 528327 16:88923146-88923305 16:88856738-88856897
4 GALNS NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)SNV Pathogenic 520618 rs1028668536 16:88908356-88908356 16:88841948-88841948
5 GALNS NM_000512.5(GALNS):c.898+1G>ASNV Pathogenic 528323 rs761850746 16:88901620-88901620 16:88835212-88835212
6 GALNS NM_000512.5(GALNS):c.121-2A>GSNV Pathogenic 572428 rs1567538216 16:88909239-88909239 16:88842831-88842831
7 GALNS NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)SNV Pathogenic 569803 rs200374326 16:88907491-88907491 16:88841083-88841083
8 GALNS NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)SNV Pathogenic 619963 rs1567526805 16:88898408-88898408 16:88832000-88832000
9 GALNS NM_000512.5(GALNS):c.498del (p.Phe167fs)deletion Pathogenic 633232 rs772656696 16:88904098-88904098 16:88837690-88837690
10 GALNS NM_000512.5(GALNS):c.489del (p.Asn164fs)deletion Pathogenic 643109 16:88904107-88904107 16:88837699-88837699
11 GALNS NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)SNV Pathogenic 651205 16:88908344-88908344 16:88841936-88841936
12 GALNS NM_000512.5(GALNS):c.1364+1G>ASNV Pathogenic 645753 16:88888996-88888996 16:88822588-88822588
13 GALNS NC_000016.10:g.(?_88840972)_(88842849_?)deldeletion Pathogenic 655224 16:88907380-88909257 16:88840972-88842849
14 GALNS NM_000512.5(GALNS):c.1241dup (p.Ile416fs)duplication Pathogenic 873053 16:88891175-88891176 16:88824767-88824768
15 GALNS NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)SNV Pathogenic 800974 16:88884423-88884423 16:88818015-88818015
16 GALNS NC_000016.10:g.(?_88822569)_(88842849_?)deldeletion Pathogenic 831598 16:88888977-88909257
17 GALNS NC_000016.10:g.(?_88826682)_(88826858_?)deldeletion Pathogenic 830431 16:88893090-88893266
18 GALNS NC_000016.10:g.(?_88837602)_(88842849_?)deldeletion Pathogenic 831954 16:88904010-88909257
19 GALNS NM_000512.5(GALNS):c.1192del (p.His398fs)deletion Pathogenic 849188 16:88891225-88891225 16:88824817-88824817
20 GALNS NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)SNV Pathogenic 803280 16:88904105-88904105 16:88837697-88837697
21 GALNS NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)SNV Pathogenic 701 rs118204440 16:88884437-88884437 16:88818029-88818029
22 GALNS GALNS, 2-BP DEL, 1343CAdeletion Pathogenic 702
23 GALNS NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)SNV Pathogenic 703 rs118204438 16:88907485-88907485 16:88841077-88841077
24 GALNS NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)SNV Pathogenic 704 rs118204439 16:88884480-88884480 16:88818072-88818072
25 GALNS NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)SNV Pathogenic 705 rs118204441 16:88908344-88908344 16:88841936-88841936
26 GALNS NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)SNV Pathogenic 706 rs118204442 16:88901743-88901743 16:88835335-88835335
27 GALNS NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)SNV Pathogenic 707 rs118204448 16:88901648-88901648 16:88835240-88835240
28 GALNS NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)SNV Pathogenic 708 rs118204443 16:88898507-88898507 16:88832099-88832099
29 GALNS NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)SNV Pathogenic 709 rs118204444 16:88904111-88904111 16:88837703-88837703
30 GALNS NM_000512.5(GALNS):c.205T>G (p.Phe69Val)SNV Pathogenic 710 rs118204445 16:88909153-88909153 16:88842745-88842745
31 GALNS NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)SNV Pathogenic 711 rs118204449 16:88902202-88902202 16:88835794-88835794
32 GALNS GALNS, 1-BP DEL, 1374Tdeletion Pathogenic 712
33 GALNS NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)SNV Pathogenic 713 rs118204446 16:88898473-88898473 16:88832065-88832065
34 GALNS NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)SNV Pathogenic 714 rs118204447 16:88909180-88909180 16:88842772-88842772
35 GALNS NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)SNV Pathogenic 18403 rs267606838 16:88893230-88893230 16:88826822-88826822
36 GALNS NM_000512.5(GALNS):c.120+1G>CSNV Pathogenic 847816 16:88923165-88923165 16:88856757-88856757
37 GALNS NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)SNV Pathogenic 698 rs118204435 16:88902630-88902630 16:88836222-88836222
38 GALNS NM_000512.4(GALNS):c.413T>C (p.Val138Ala)SNV Pathogenic 699 rs118204436 16:88907409-88907409 16:88841001-88841001
39 GALNS NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)SNV Pathogenic 93179 rs398123439 16:88904119-88904119 16:88837711-88837711
40 GALNS NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)SNV Pathogenic 192298 rs786205899 16:88904054-88904054 16:88837646-88837646
41 GALNS NM_000512.5(GALNS):c.898+1G>CSNV Pathogenic 224783 rs761850746 16:88901620-88901620 16:88835212-88835212
42 GALNS NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)SNV Pathogenic 265169 rs770053354 16:88901659-88901659 16:88835251-88835251
43 GALNS NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)SNV Pathogenic/Likely pathogenic 265167 rs146093755 16:88907407-88907407 16:88840999-88840999
44 GALNS NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)SNV Pathogenic/Likely pathogenic 281018 rs199638097 16:88909219-88909219 16:88842811-88842811
45 GALNS NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)SNV Pathogenic/Likely pathogenic 197149 rs794727625 16:88907401-88907401 16:88840993-88840993
46 GALNS NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)SNV Pathogenic/Likely pathogenic 700 rs118204437 16:88891261-88891261 16:88824853-88824853
47 GALNS NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)SNV Pathogenic/Likely pathogenic 856567 16:88909128-88909128 16:88842720-88842720
48 GALNS NM_000512.5(GALNS):c.425A>T (p.His142Leu)SNV Likely pathogenic 836229 16:88904171-88904171 16:88837763-88837763
49 GALNS NM_000512.5(GALNS):c.423-862C>TSNV Likely pathogenic 800975 16:88905035-88905035 16:88838627-88838627
50 GALNS NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)SNV Likely pathogenic 803279 16:88880923-88880923 16:88814515-88814515

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iva:

73 (show top 50) (show all 126)
# Symbol AA change Variation ID SNP ID
1 GALNS p.Gly47Arg VAR_007172 rs199638097
2 GALNS p.Asp60Asn VAR_007173 rs118204447
3 GALNS p.Pro77Arg VAR_007175
4 GALNS p.Ser80Leu VAR_007177 rs120915432
5 GALNS p.Arg90Trp VAR_007178 rs102866853
6 GALNS p.Arg94Cys VAR_007179 rs118204441
7 GALNS p.Arg94Gly VAR_007180 rs118204441
8 GALNS p.Gly96Cys VAR_007181
9 GALNS p.Gly96Val VAR_007182
10 GALNS p.Phe97Val VAR_007183
11 GALNS p.Gln111Arg VAR_007184
12 GALNS p.Ile113Phe VAR_007185 rs118204438
13 GALNS p.Pro125Leu VAR_007186 rs746949976
14 GALNS p.Ser135Arg VAR_007187
15 GALNS p.Val138Ala VAR_007188 rs118204436
16 GALNS p.Gly139Ser VAR_007189 rs146093755
17 GALNS p.Trp141Arg VAR_007190 rs794727625
18 GALNS p.Pro151Leu VAR_007191 rs559063128
19 GALNS p.Pro151Ser VAR_007192
20 GALNS p.Gly155Arg VAR_007193 rs398123438
21 GALNS p.Phe156Cys VAR_007194 rs130114630
22 GALNS p.Phe156Ser VAR_007195
23 GALNS p.His166Gln VAR_007196 rs130119869
24 GALNS p.Gly168Arg VAR_007197 rs775732598
25 GALNS p.Pro179His VAR_007199
26 GALNS p.Pro179Leu VAR_007200
27 GALNS p.Glu185Gly VAR_007201
28 GALNS p.Asn204Lys VAR_007203 rs118204435
29 GALNS p.Trp230Gly VAR_007204
30 GALNS p.Gly247Asp VAR_007206 rs761385192
31 GALNS p.Ala257Thr VAR_007207 rs773283163
32 GALNS p.Arg259Gln VAR_007208 rs118204442
33 GALNS p.Phe284Val VAR_007210 rs144067930
34 GALNS p.Ser287Leu VAR_007211 rs770053354
35 GALNS p.Gly290Ser VAR_007212 rs975409254
36 GALNS p.Ala291Asp VAR_007213
37 GALNS p.Ala291Thr VAR_007214 rs118204448
38 GALNS p.Ser295Phe VAR_007215 rs149239881
39 GALNS p.Gly301Cys VAR_007216 rs118204443
40 GALNS p.Gly309Arg VAR_007217
41 GALNS p.Thr312Ser VAR_007218 rs118204446
42 GALNS p.Met318Arg VAR_007219 rs746756997
43 GALNS p.Met343Arg VAR_007221
44 GALNS p.Asp344Glu VAR_007222
45 GALNS p.Asp344Asn VAR_007223
46 GALNS p.Phe346Leu VAR_007224
47 GALNS p.Ala351Val VAR_007225 rs761386453
48 GALNS p.Arg361Gly VAR_007226 rs778120439
49 GALNS p.Arg376Gln VAR_007227 rs150734270
50 GALNS p.Arg386Cys VAR_007228 rs118204437

Expression for Mucopolysaccharidosis, Type Iva

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iva.

Pathways for Mucopolysaccharidosis, Type Iva

Pathways related to Mucopolysaccharidosis, Type Iva according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 SUMF1 SGSH NAGLU IDUA IDS GUSB
2
Show member pathways
12.61 SGSH NAGLU IDUA IDS GUSB GNS
3
Show member pathways
12.21 SGSH NAGLU IDUA IDS GUSB GLB1
4
Show member pathways
12.2 SUMF1 GLB1 GALC ARSH ARSB ARSA
5
Show member pathways
11.74 SUMF1 ARSH ARSB ARSA
6 11.58 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
7
Show member pathways
10.91 SGSH NAGLU IDUA IDS GUSB GNS

GO Terms for Mucopolysaccharidosis, Type Iva

Cellular components related to Mucopolysaccharidosis, Type Iva according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 SGSH NAGLU IGF2R IDUA GUSB GNS
2 lysosomal lumen GO:0043202 9.7 SGSH NAGLU IDUA IDS GUSB GNS
3 endoplasmic reticulum lumen GO:0005788 9.67 SUMF1 ARSH ARSB ARSA
4 azurophil granule lumen GO:0035578 9.63 GUSB GNS GLB1 GALNS ARSB ARSA
5 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
6 lysosome GO:0005764 9.44 SGSH NAGLU M6PR IGF2R IDUA IDS

Biological processes related to Mucopolysaccharidosis, Type Iva according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.72 NAGLU IDUA GUSB GLB1 GALC
2 lysosomal transport GO:0007041 9.58 M6PR IGF2R ARSB
3 chondroitin sulfate catabolic process GO:0030207 9.54 IDUA IDS ARSB
4 neutrophil degranulation GO:0043312 9.5 IGF2R GUSB GNS GLB1 GALNS ARSB
5 glycosaminoglycan metabolic process GO:0030203 9.48 SGSH GNS
6 response to pH GO:0009268 9.46 ARSB ARSA
7 glycosphingolipid metabolic process GO:0006687 9.46 SUMF1 GLB1 GALC ARSA
8 response to methylmercury GO:0051597 9.43 ARSB ARSA
9 keratan sulfate catabolic process GO:0042340 9.43 GNS GLB1 GALNS
10 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS GUSB GNS

Molecular functions related to Mucopolysaccharidosis, Type Iva according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.86 SGSH IDS GNS GALNS GALC ARSH
2 hydrolase activity GO:0016787 9.73 SGSH NAGLU IDUA IDS GUSB GNS
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.72 NAGLU IDUA GUSB GLB1 GALC
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.58 IDUA GUSB GLB1
5 glycosaminoglycan binding GO:0005539 9.48 SGSH GNS
6 retromer complex binding GO:1905394 9.46 M6PR IGF2R
7 arylsulfatase activity GO:0004065 9.46 GALNS ARSH ARSB ARSA
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.43 SGSH GNS
9 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 GALNS ARSB
10 sulfuric ester hydrolase activity GO:0008484 9.17 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis, Type Iva

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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