MCID: MCP047
MIFTS: 44

Mucopolysaccharidosis, Type Iva

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

Aliases & Classifications for Mucopolysaccharidosis, Type Iva

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iva:

Name: Mucopolysaccharidosis, Type Iva 57 40
Galactosamine-6-Sulfatase Deficiency 57 76 59 75
Galns Deficiency 57 59 75 73
Mps4a 57 59 75
Mucopolysaccharidosis Type Iva 59 75
Mucopolysaccharidosis Iva 57 13
Morquio Syndrome a 57 75
Morquio a Disease 57 75
Mps Iva 57 75
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency 59
Mucopolysaccharidosis, Mps-Iv-a 73
Mucopolysaccharidosis Type 4a 59
Mucopolysaccharidosis 4a 75
Morquio Disease, Type a 76
Morquio Disease Type a 59
Morquio's Syndrome a 75
Mpsiva 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
mucopolysaccharidosis, type iva:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis, Type Iva

OMIM : 57 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 galactosamine-6-sulfatase deficiency, is related to mucopolysaccharidosis iv and mucopolysaccharidosis, type ivb, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis, Type Iva is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase). The drugs Pharmaceutical Solutions and Morphine have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and lung, and related phenotypes are inguinal hernia and wide mouth

UniProtKB/Swiss-Prot : 75 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 : 76 Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or... more...

Related Diseases for Mucopolysaccharidosis, Type Iva

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



Diseases related to Mucopolysaccharidosis, Type Iva

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iva

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
joint laxity
ulnar deviation of the wrist
widened metaphyses
epiphyseal deformities of tubular bones

Abdomen External Features:
inguinal hernia

Skeletal:
osteoporosis

Head And Neck Ears:
hearing loss

Neurologic Central Nervous System:
normal intelligence
cervical myelopathy

Head And Neck Eyes:
corneal opacities

Head And Neck Mouth:
broad mouth

Respiratory Nasopharynx:
frequent upper respiratory tract infections

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

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
hyperlordosis
ovoid vertebral bodies
platyspondyly
more
Head And Neck Teeth:
widely spaced teeth
grayish enamel
frequent caries

Skeletal Pelvis:
coxa valga
constricted iliac wings

Head And Neck Face:
prognathism
mildly coarse facial features

Respiratory Lung:
restrictive lung disease

Cardiovascular Heart:
valvular heart disease

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

Abdomen Liver:
mild hepatomegaly

Skeletal Hands:
pointed proximal second through fifth metacarpals


Clinical features from OMIM:

253000

Human phenotypes related to Mucopolysaccharidosis, Type Iva:

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

UMLS symptoms related to Mucopolysaccharidosis, Type Iva:


ulnar deviation of the wrist

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iva

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Morphine Approved, Investigational Phase 2 57-27-2 5288826

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
2 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
3 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
4 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
5 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
6 A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01242111 Phase 1, Phase 2 BMN 110
7 Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome Terminated NCT01609062 Phase 2 BMN 110;BMN 110
8 Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation Terminated NCT01697319 Phase 2 BMN 110
9 Gait Analysis in MPS IVA Unknown status NCT01920828
10 BMN 110 US Expanded Access Program Approved for marketing NCT01858103 BMN 110
11 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study) Completed NCT02208661
12 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome Completed NCT01961518
13 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
14 Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis Completed NCT02067650
15 Psychological Concomitants of Morquio Syndrome (The MAP Study) Completed NCT01752296
16 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
17 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
18 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
19 Natural History of Atypical Morquio A Disease Not yet recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
20 A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
21 Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA Terminated NCT01733615
22 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
23 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iva

Genetic Tests for Mucopolysaccharidosis, Type Iva

Anatomical Context for Mucopolysaccharidosis, Type Iva

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iva:

41
Heart, Bone, Lung, Brain, Eye

Publications for Mucopolysaccharidosis, Type Iva

Articles related to Mucopolysaccharidosis, Type Iva:

(show all 14)
# Title Authors Year
1
Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels. ( 28487826 )
2017
2
Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome). ( 27251659 )
2016
3
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). ( 27610627 )
2016
4
Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA. ( 26276046 )
2015
5
Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. ( 26973801 )
2015
6
Elosulfase Alfa: a review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome). ( 25200032 )
2014
7
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA. ( 23313879 )
2013
8
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. ( 22358740 )
2013
9
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. ( 21506915 )
2011
10
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. ( 20107903 )
2010
11
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients. ( 7633425 )
1995
12
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS). ( 7607677 )
1995
13
Mucopolysaccharidosis Type IVA ( 23844448 )
1993
14
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. ( 1522213 )
1992

Variations for Mucopolysaccharidosis, Type Iva

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

75 (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
5 GALNS p.Arg90Trp VAR_007178 rs1028668536Mucopolysaccharidosis
6 GALNS p.Arg94Cys VAR_007179
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
22 GALNS p.Phe156Ser VAR_007195
23 GALNS p.His166Gln VAR_007196
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

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iva:

6
(show top 50) (show all 107)
# 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, Type Iva

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

Pathways for Mucopolysaccharidosis, Type Iva

GO Terms for Mucopolysaccharidosis, Type Iva

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 8.62 ARSH GALNS

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

# Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 8.62 ARSH GALNS

Sources for Mucopolysaccharidosis, Type Iva

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
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44 MeSH
45 MESH via Orphanet
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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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