MLIIIC
MCID: MCL016
MIFTS: 50

Mucolipidosis Iii Gamma (MLIIIC)

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

Aliases & Classifications for Mucolipidosis Iii Gamma

MalaCards integrated aliases for Mucolipidosis Iii Gamma:

Name: Mucolipidosis Iii Gamma 57 12 25 43 13 15 71
Mucolipidosis Type Iii Gamma 58 29 6
Pseudo-Hurler Polydystrophy 43 58 71
Mucolipidosis Type Iii 43 58
Mucolipidosis Iiic 57 43
Ml Iii Gamma 57 58
Ml Iiic 57 43
Mucolipidosis Type Iii Complementation Group C 73
Mucolipidosis Iii, Complementation Group C 57
Mucolipidosis Iii, Iranian Variant Form 57
Variant Pseudo-Hurler Polydystrophy 73
Mucolipidosis Iii, Variant Form 57
Mucolipidosis, Type Iii, Gamma 39
Mucolipidosis Iii, Variant 43
Mucolipidosis Type 3 Gamma 58
Mucolipidosis Iii 43
Ml 3 Gamma 58
Mliiic 73

Characteristics:

Orphanet epidemiological data:

58
mucolipidosis type iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Netherlands),1-9/100000 (Portugal),1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult,young Adult;
mucolipidosis type iii gamma
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
mliii is a heterogeneous disorder
complementation groups - complementation group a (classic mliii, )
complementation group b (represented by single atypical patient)
complementation group c (variant mliii, )


HPO:

31
mucolipidosis iii gamma:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Mucolipidosis Iii Gamma

MedlinePlus Genetics : 43 Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems in people with mucolipidosis III gamma also cause pain, which becomes more severe over time.People with mucolipidosis III gamma often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or "coarse" as they get older. A small percentage of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III gamma generally survive into adulthood, but they may have a shortened lifespan.

MalaCards based summary : Mucolipidosis Iii Gamma, also known as mucolipidosis type iii gamma, is related to mucolipidoses and mucolipidosis, and has symptoms including arthralgia, stiff shoulders and thick skin. An important gene associated with Mucolipidosis Iii Gamma is GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Lysosome. Affiliated tissues include eye, bone and heart, and related phenotypes are craniofacial hyperostosis and hypoplastic inferior ilia

Disease Ontology : 12 A mucolipidosis that has material basis in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay.

OMIM® : 57 Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by Raas-Rothschild et al., 2000). (252605) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Mucolipidosis type III complementation group C: Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts.

GeneReviews: NBK24701

Related Diseases for Mucolipidosis Iii Gamma

Diseases in the Mucolipidosis family:

Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta
Mucolipidosis Iii Gamma Mucolipidosis Iv

Diseases related to Mucolipidosis Iii Gamma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 mucolipidoses 31.9 GNPTG GNPTAB
2 mucolipidosis 30.2 MBTPS1 M6PR GNPTG GNPTAB
3 tarsal tunnel syndrome 30.1 GNPTG GNPTAB
4 mucolipidosis ii alpha/beta 29.8 MBTPS1 M6PR GNPTG GNPTAB
5 mucopolysaccharidosis-plus syndrome 29.6 M6PR GNPTG GNPTAB
6 mucolipidosis iii alpha/beta 29.5 MBTPS1 M6PR GNPTG GNPTAB
7 autosomal recessive disease 10.3
8 niemann-pick disease 10.2
9 carpal tunnel syndrome 10.2
10 gnptab-related disorders 10.2
11 tibial neuropathy 10.1 GNPTG GNPTAB
12 hurler syndrome 10.1 GNPTG GNPTAB
13 gingival hypertrophy 10.1 GNPTG GNPTAB
14 articulation disorder 10.1 GNPTG GNPTAB
15 atrial standstill 1 10.0
16 astigmatism 10.0
17 dilated cardiomyopathy 10.0
18 lysosomal storage disease 10.0
19 avascular necrosis 10.0
20 scoliosis 10.0
21 polycystic kidney disease 10.0
22 mild cognitive impairment 10.0
23 tuberous sclerosis 10.0
24 dysostosis 10.0
25 kidney disease 10.0
26 lysosomal storage disease with skeletal involvement 10.0
27 breath-holding spells 10.0
28 bone resorption disease 10.0
29 mucopolysaccharidosis iv 10.0
30 gaucher's disease 10.0
31 stuttering 10.0 GNPTG GNPTAB
32 mucopolysaccharidosis, type iiia 9.9 M6PR GNPTAB
33 speech disorder 9.9 GNPTG GNPTAB
34 mucopolysaccharidosis iii 9.9 M6PR GNPTAB
35 otitis media 9.9
36 pain sensitivity quantitative trait locus 1 9.9
37 umbilical hernia 9.9
38 parkinsonism 9.9
39 microcephaly 9.9
40 hypertrophic cardiomyopathy 9.9
41 bardet-biedl syndrome 9.9
42 retinal vascular disease 9.9
43 sensory peripheral neuropathy 9.9
44 systemic scleroderma 9.9
45 mutism 9.9
46 juvenile rheumatoid arthritis 9.9
47 neuropathy 9.9
48 pectus carinatum 9.9
49 mucopolysaccharidoses 9.9
50 tremor 9.9

Graphical network of the top 20 diseases related to Mucolipidosis Iii Gamma:



Diseases related to Mucolipidosis Iii Gamma

Symptoms & Phenotypes for Mucolipidosis Iii Gamma

Human phenotypes related to Mucolipidosis Iii Gamma:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
2 hypoplastic inferior ilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008821
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
8 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
9 hearing abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000364
10 large iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008818
11 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
12 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
13 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
14 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
15 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
16 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
17 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
18 abnormal aortic valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001646
19 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
20 scoliosis 31 HP:0002650
21 kyphosis 31 HP:0002808
22 short neck 31 HP:0000470
23 pectus carinatum 31 HP:0000768
24 abnormal facial shape 58 Very frequent (99-80%)
25 intellectual disability, mild 31 HP:0001256
26 dysostosis multiplex 31 HP:0000943
27 abnormal heart valve morphology 58 Occasional (29-5%)
28 malformation of the heart and great vessels 58 Frequent (79-30%)
29 genu valgum 31 HP:0002857
30 opacification of the corneal stroma 31 HP:0007759
31 abnormality of the hip bone 58 Very frequent (99-80%)
32 myopia 31 HP:0000545
33 arthralgia 31 HP:0002829
34 aortic valve stenosis 31 HP:0001650
35 aortic regurgitation 31 HP:0001659
36 abnormality of the hand 31 HP:0001155
37 flared iliac wings 31 HP:0002869
38 flat capital femoral epiphysis 31 HP:0003370
39 abnormal rib cage morphology 31 HP:0001547
40 increased serum beta-hexosaminidase 31 HP:0003333
41 increased serum iduronate sulfatase level 31 HP:0003538

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
kyphosis
lordosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal:
dysostosis multiplex
joint pain
joint stiffness, progressive

Head And Neck Eyes:
myopia
fine corneal opacities

Skeletal Pelvis:
flared iliac wings
flattened proximal femoral epiphyses

Head And Neck Face:
coarse face

Chest External Features:
thoracic asymmetry

Head And Neck Neck:
short neck

Growth Height:
short stature

Skeletal Limbs:
genu valgum
shoulder stiffness

Cardiovascular Heart:
aortic regurgitation
aortic stenosis
aortic valve thickening

Laboratory Abnormalities:
increased serum beta-hexosaminidase
no mucopolysacchariduria
increased serum arylsulfatase a.
increased serum alpha-mannosidase
increased serum iduronate sulfatase
more
Skeletal Hands:
hand stiffness
claw-hand deformity

Neurologic Central Nervous System:
mental retardation, mild (in some)

Clinical features from OMIM®:

252605 (Updated 05-Mar-2021)

UMLS symptoms related to Mucolipidosis Iii Gamma:


arthralgia, stiff shoulders, thick skin

Drugs & Therapeutics for Mucolipidosis Iii Gamma

Search Clinical Trials , NIH Clinical Center for Mucolipidosis Iii Gamma

Genetic Tests for Mucolipidosis Iii Gamma

Genetic tests related to Mucolipidosis Iii Gamma:

# Genetic test Affiliating Genes
1 Mucolipidosis Type Iii Gamma 29 GNPTG

Anatomical Context for Mucolipidosis Iii Gamma

MalaCards organs/tissues related to Mucolipidosis Iii Gamma:

40
Eye, Bone, Heart, Skin, Kidney, Ovary

Publications for Mucolipidosis Iii Gamma

Articles related to Mucolipidosis Iii Gamma:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. 61 6 25 57
19370764 2009
2
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 61 6 57 25
10712439 2000
3
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 57 6 25
19659762 2009
4
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. 61 6 57
20034096 2010
5
Molecular order in mucolipidosis II and III nomenclature. 25 57
18203164 2008
6
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. 57 25
8940155 1996
7
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. 6 61
16465621 2006
8
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. 61 6
16094673 2005
9
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 57 61
6309902 1983
10
Mucolipidosis III is genetically heterogeneous. 57 61
6961420 1982
11
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. 61 57
6461005 1981
12
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 6
20880125 2011
13
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. 61 25
20951619 2011
14
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 6
19197337 2009
15
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 6
18190596 2008
16
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. 6
16116615 2005
17
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. 57
1309624 1992
18
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. 57
3001079 1986
19
Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. 57
6287841 1982
20
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. 25
30882951 2019
21
Clinical implementation of gene panel testing for lysosomal storage diseases. 25
30548430 2019
22
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. 25
30507725 2019
23
Mucolipidosis type III, a series of adult patients. 25
29704188 2018
24
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. 25
29170090 2018
25
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. 25
28950892 2017
26
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
27
Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing. 25
28649512 2017
28
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 25
24767253 2014
29
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. 25
15532026 2004
30
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 25
15060128 2004
31
Mucolipidosis III presenting as a rheumatological disorder. 25
8441145 1993
32
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. 61
33507475 2021
33
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. 61
31188938 2019
34
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 61
30235039 2018
35
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 61
29900995 2018
36
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. 61
26935170 2016
37
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. 61
26108976 2015
38
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. 61
25314316 2014
39
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling. 61
27896079 2014
40
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. 61
22241869 2013
41
Mucolipidosis III Gamma 61
20301784 2010
42
Mucolipidosis III Alpha/Beta – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301730 2008
43
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. 61
16835905 2006
44
A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. 61
15361946 2004
45
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). 61
14555827 2003
46
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). 61
11891688 2002
47
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. 61
12564313 2002
48
[I-cell disease and pseudo-Hurler polydystrophy]. 61
11031999 2000
49
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. 61
9077513 1997
50
[Mucolipidosis type III (case report)]. 61
8759415 1996

Variations for Mucolipidosis Iii Gamma

ClinVar genetic disease variations for Mucolipidosis Iii Gamma:

6 (show top 50) (show all 540)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) SNV Pathogenic 2762 rs137852895 12:102163863-102163863 12:101770085-101770085
2 GNPTAB NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly) SNV Pathogenic 38416 rs142172397 12:102158710-102158710 12:101764932-101764932
3 GNPTAB NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) SNV Pathogenic 2761 rs281865025 12:102173930-102173930 12:101780152-101780152
4 GNPTAB NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) SNV Pathogenic 39018 rs281864970 12:102164296-102164296 12:101770518-101770518
5 GNPTAB NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) SNV Pathogenic 39026 rs281864973 12:102163875-102163875 12:101770097-101770097
6 GNPTAB NM_024312.5(GNPTAB):c.1285-2A>G SNV Pathogenic 39028 rs281864974 12:102161940-102161940 12:101768162-101768162
7 GNPTAB NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter) SNV Pathogenic 39038 rs281864950 12:102190490-102190490 12:101796712-101796712
8 GNPTAB NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) SNV Pathogenic 39053 rs281864953 12:102183797-102183797 12:101790019-101790019
9 GNPTAB NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro) SNV Pathogenic 39060 rs281865002 12:102155480-102155480 12:101761702-101761702
10 GNPTAB NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) SNV Pathogenic 39061 rs281865004 12:102155391-102155391 12:101761613-101761613
11 GNPTAB NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg) SNV Pathogenic 39062 rs281865005 12:102155390-102155390 12:101761612-101761612
12 GNPTAB NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser) SNV Pathogenic 39075 rs281865019 12:102147294-102147294 12:101753516-101753516
13 GNPTAB NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) SNV Pathogenic 39081 rs281864947 12:102224410-102224410 12:101830632-101830632
14 GNPTAB NM_024312.5(GNPTAB):c.571+3A>C SNV Pathogenic 39083 rs281864960 12:102179787-102179787 12:101786009-101786009
15 GNPTAB NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) SNV Pathogenic 100738 rs144060383 12:102158341-102158341 12:101764563-101764563
16 GNPTAB NM_024312.5(GNPTAB):c.22A>G (p.Arg8Gly) SNV Pathogenic 684627 rs1594269995 12:102224432-102224432 12:101830654-101830654
17 GNPTAB NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs) Duplication Pathogenic 39033 rs281864978 12:102161837-102161838 12:101768059-101768060
18 GNPTAB NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs) Insertion Pathogenic 39082 rs281864957 12:102179843-102179844 12:101786065-101786066
19 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 2764 rs137852897 12:102147187-102147187 12:101753409-101753409
20 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>G SNV Pathogenic 2773 rs34788341 12:102151344-102151344 12:101757566-101757566
21 GNPTAB NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) SNV Pathogenic 2774 rs34159654 12:102224444-102224444 12:101830666-101830666
22 GNPTAB NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) SNV Pathogenic 2775 rs137852900 12:102163963-102163963 12:101770185-101770185
23 GNPTG GNPTG, 1-BP INS Insertion Pathogenic 2794
24 GNPTG NM_032520.4(GNPTG):c.611delG (p.Gly204Alafs) Deletion Pathogenic 2795 rs193302856 16:1412611-1412611 16:1362610-1362610
25 GNPTG NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) Deletion Pathogenic 2796 rs193302859 16:1412642-1412669 16:1362641-1362668
26 GNPTG NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) SNV Pathogenic 2797 rs137852884 16:1412054-1412054 16:1362053-1362053
27 GNPTG GNPTG, IVS8AS, A-G, -2 SNV Pathogenic 2798
28 GNPTG GNPTG, 1-BP DEL, 639T Deletion Pathogenic 2800
29 GNPTG GNPTG, IVS8AS, G-T, -1 SNV Pathogenic 2801
30 GNPTG NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) SNV Pathogenic 21713 rs193302848 16:1411761-1411761 16:1361760-1361760
31 GNPTG NM_032520.5(GNPTG):c.318-1G>C SNV Pathogenic 21714 rs193302847 16:1412038-1412038 16:1362037-1362037
32 GNPTG NM_032520.5(GNPTG):c.344_346ACA[1] (p.Asn116del) Microsatellite Pathogenic 21715 rs193302849 16:1412063-1412065 16:1362062-1362064
33 GNPTG NM_032520.5(GNPTG):c.379_391del (p.Asp127fs) Deletion Pathogenic 21716 rs193302850 16:1412099-1412111 16:1362098-1362110
34 GNPTG NM_032520.5(GNPTG):c.523dup (p.Leu175fs) Duplication Pathogenic 21717 rs193302851 16:1412317-1412318 16:1362316-1362317
35 GNPTG NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs) Insertion Pathogenic 21718 rs1555451988 16:1412534-1412535 16:1362533-1362534
36 GNPTG NM_032520.5(GNPTG):c.609+28_610-16del Deletion Pathogenic 21719 rs193302853 16:1412563-1412596 16:1362562-1362595
37 GNPTG NM_032520.5(GNPTG):c.610-1G>T SNV Pathogenic 21720 rs193302854 16:1412611-1412611 16:1362610-1362610
38 GNPTG NM_032520.5(GNPTG):c.610-2A>G SNV Pathogenic 21721 rs193302855 16:1412610-1412610 16:1362609-1362609
39 GNPTG NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs) Insertion Pathogenic 21722 rs193302857 16:1412621-1412622 16:1362620-1362621
40 GNPTG NM_032520.5(GNPTG):c.639del (p.Phe213fs) Deletion Pathogenic 21723 rs193302858 16:1412637-1412637 16:1362636-1362636
41 GNPTG NM_032520.5(GNPTG):c.527-10G>A SNV Pathogenic 30685 rs1336176104 16:1412443-1412443 16:1362442-1362442
42 GNPTAB NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) SNV Pathogenic 38413 rs281865026 12:102163887-102163887 12:101770109-101770109
43 GNPTAB NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) Microsatellite Pathogenic 2769 rs281865029 12:102158120-102158121 12:101764342-101764343
44 GNPTAB NM_024312.5(GNPTAB):c.2715+1G>A SNV Pathogenic 2768 rs281865031 12:102157979-102157979 12:101764201-101764201
45 GNPTAB NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) SNV Pathogenic 38429 rs35333334 12:102142959-102142959 12:101749181-101749181
46 GNPTAB NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) SNV Pathogenic 39017 rs281864969 12:102164297-102164297 12:101770519-101770519
47 GNPTAB NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) SNV Pathogenic 39029 rs281864975 12:102161898-102161898 12:101768120-101768120
48 GNPTAB NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) SNV Pathogenic 39035 rs281864980 12:102159967-102159967 12:101766189-101766189
49 GNPTAB NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) Deletion Pathogenic 39058 rs281864999 12:102158002-102158002 12:101764224-101764224
50 GNPTAB NM_024312.5(GNPTAB):c.2715+2T>G SNV Pathogenic 39059 rs281865001 12:102157978-102157978 12:101764200-101764200

UniProtKB/Swiss-Prot genetic disease variations for Mucolipidosis Iii Gamma:

73
# Symbol AA change Variation ID SNP ID
1 GNPTG p.Cys142Tyr VAR_070816
2 GNPTG p.Gly106Ser VAR_077164 rs137852885
3 GNPTG p.Gly126Ser VAR_077165 rs775359476

Expression for Mucolipidosis Iii Gamma

Search GEO for disease gene expression data for Mucolipidosis Iii Gamma.

Pathways for Mucolipidosis Iii Gamma

Pathways related to Mucolipidosis Iii Gamma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.93 PRKD1 CABP1
2 10.91 M6PR GNPTG GNPTAB

GO Terms for Mucolipidosis Iii Gamma

Cellular components related to Mucolipidosis Iii Gamma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.76 PRKD1 MBTPS1 M6PR GOLIM4 GOLGA2 GNPTG
2 Golgi membrane GO:0000139 9.43 MBTPS1 GOLIM4 GOLGA2 GNPTG GNPTAB CABP1
3 transport vesicle GO:0030133 9.37 M6PR GOLIM4
4 Golgi cisterna membrane GO:0032580 9.32 GOLIM4 GOLGA2
5 cis-Golgi network GO:0005801 9.26 GOLIM4 GOLGA2
6 Golgi apparatus GO:0005794 9.23 PRKD1 MBTPS1 M6PR GOLIM4 GOLGA2 GNPTG

Biological processes related to Mucolipidosis Iii Gamma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi organization GO:0007030 9.26 PRKD1 GOLGA2
2 lysosome organization GO:0007040 9.16 MBTPS1 GNPTAB
3 carbohydrate phosphorylation GO:0046835 8.96 GNPTG GNPTAB
4 secretion of lysosomal enzymes GO:0033299 8.62 M6PR GNPTAB

Molecular functions related to Mucolipidosis Iii Gamma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB

Sources for Mucolipidosis Iii Gamma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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