MLIIIC
MCID: MCL016
MIFTS: 43

Mucolipidosis Iii Gamma (MLIIIC)

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

Aliases & Classifications for Mucolipidosis Iii Gamma

MalaCards integrated aliases for Mucolipidosis Iii Gamma:

Name: Mucolipidosis Iii Gamma 56 24 25 29 13 6 71
Pseudo-Hurler Polydystrophy 25 58 71
Mucolipidosis Type Iii 25 58
Mucolipidosis Iiic 56 25
Ml Iii Gamma 56 58
Ml Iiic 56 25
Mucolipidosis Type Iii Complementation Group C 73
Mucolipidosis Iii, Complementation Group C 56
Mucolipidosis Iii, Iranian Variant Form 56
Variant Pseudo-Hurler Polydystrophy 73
Mucolipidosis Iii, Variant Form 56
Mucolipidosis, Type Iii, Gamma 39
Mucolipidosis Type Iii Gamma 58
Mucolipidosis Iii, Variant 25
Mucolipidosis Type 3 Gamma 58
Mucolipidosis Iii 25
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:

56
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

Genetics Home Reference : 25 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 pseudo-hurler polydystrophy, is related to mucolipidosis and mucolipidoses, 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). The drug polysaccharide-K has been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are craniofacial hyperostosis and hypoplastic inferior ilia

OMIM : 56 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)

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 all 41)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis 29.5 UNKL GNPTG
2 mucolipidoses 11.7
3 niemann-pick disease 10.4
4 mucolipidosis ii alpha/beta 10.3
5 autosomal recessive disease 10.3
6 carpal tunnel syndrome 10.2
7 gnptab-related disorders 10.2
8 astigmatism 10.1
9 dilated cardiomyopathy 10.1
10 lysosomal storage disease 10.1
11 avascular necrosis 10.1
12 mucolipidosis iii alpha/beta 10.0
13 scoliosis 10.0
14 polycystic kidney disease 10.0
15 tuberous sclerosis 10.0
16 dysostosis 10.0
17 kidney disease 10.0
18 lysosomal storage disease with skeletal involvement 10.0
19 gaucher disease, type i 10.0
20 breath-holding spells 10.0
21 bone resorption disease 10.0
22 tarsal tunnel syndrome 10.0
23 mucopolysaccharidosis iv 10.0
24 gaucher's disease 10.0
25 atrial standstill 1 9.9
26 otitis media 9.9
27 mucopolysaccharidosis-plus syndrome 9.9
28 pain sensitivity quantitative trait locus 1 9.9
29 umbilical hernia 9.9
30 microcephaly 9.9
31 bardet-biedl syndrome 9.9
32 retinal vascular disease 9.9
33 sensory peripheral neuropathy 9.9
34 systemic scleroderma 9.9
35 mutism 9.9
36 juvenile rheumatoid arthritis 9.9
37 neuropathy 9.9
38 hypertrophic cardiomyopathy 9.9
39 pectus carinatum 9.9
40 mucopolysaccharidoses 9.9
41 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 42)
# 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 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
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 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
19 abnormal aortic valve morphology 31 occasional (7.5%) HP:0001646
20 short neck 31 HP:0000470
21 genu valgum 31 HP:0002857
22 scoliosis 31 HP:0002650
23 kyphosis 31 HP:0002808
24 pectus carinatum 31 HP:0000768
25 abnormal facial shape 58 Very frequent (99-80%)
26 intellectual disability, mild 31 HP:0001256
27 arthralgia 31 HP:0002829
28 dysostosis multiplex 31 HP:0000943
29 abnormal heart valve morphology 58 Occasional (29-5%)
30 malformation of the heart and great vessels 58 Frequent (79-30%)
31 opacification of the corneal stroma 31 HP:0007759
32 abnormality of the aortic valve 58 Occasional (29-5%)
33 abnormality of the hip bone 58 Very frequent (99-80%)
34 myopia 31 HP:0000545
35 abnormality of the hand 31 HP:0001155
36 aortic valve stenosis 31 HP:0001650
37 aortic regurgitation 31 HP:0001659
38 flared iliac wings 31 HP:0002869
39 flat capital femoral epiphysis 31 HP:0003370
40 increased serum iduronate sulfatase activity 31 HP:0003538
41 abnormality of the rib cage 31 HP:0001547
42 increased serum beta-hexosaminidase 31 HP:0003333

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
lordosis

Growth Height:
short stature

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

Skeletal Limbs:
genu valgum
shoulder stiffness

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal:
dysostosis multiplex
joint pain
joint stiffness, progressive

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

UMLS symptoms related to Mucolipidosis Iii Gamma:


arthralgia, stiff shoulders, thick skin

Drugs & Therapeutics for Mucolipidosis Iii Gamma

Drugs for Mucolipidosis Iii Gamma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
2 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673

Search 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 Iii Gamma 29 GNPTG

Anatomical Context for Mucolipidosis Iii Gamma

MalaCards organs/tissues related to Mucolipidosis Iii Gamma:

40
Bone, Heart, Eye, Skin, Kidney, Testes, 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 24 56 6
19370764 2009
2
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 61 24 56 6
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. 24 56 6
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 56 6
20034096 2010
5
Molecular order in mucolipidosis II and III nomenclature. 24 56
18203164 2008
6
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. 24 56
8940155 1996
7
Mucolipidosis III Gamma 61 6
20301784 2010
8
Mucolipidosis III Alpha/Beta 61 6
20301730 2008
9
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. 61 6
16465621 2006
10
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
11
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 61 56
6309902 1983
12
Mucolipidosis III is genetically heterogeneous. 61 56
6961420 1982
13
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. 61 56
6461005 1981
14
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 6
20880125 2011
15
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. 61 24
20951619 2011
16
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 6
19197337 2009
17
GNPTAB-Related Disorders 6
20301728 2008
18
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 6
18190596 2008
19
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
20
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. 56
1309624 1992
21
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. 56
3001079 1986
22
Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. 56
6287841 1982
23
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. 24
30882951 2019
24
Clinical implementation of gene panel testing for lysosomal storage diseases. 24
30548430 2019
25
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. 24
30507725 2019
26
Mucolipidosis type III, a series of adult patients. 24
29704188 2018
27
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. 24
29170090 2018
28
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. 24
28950892 2017
29
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
30
Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing. 24
28649512 2017
31
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24
24767253 2014
32
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. 24
15532026 2004
33
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 24
15060128 2004
34
Mucolipidosis III presenting as a rheumatological disorder. 24
8441145 1993
35
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. 61
31188938 2019
36
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 61
30235039 2018
37
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 61
29900995 2018
38
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
39
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. 61
26108976 2015
40
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling. 61
27896079 2014
41
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. 61
25314316 2014
42
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. 61
22241869 2013
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 98) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTG GNPTG, 1-BP INSinsertion Pathogenic 2794
2 GNPTG NM_032520.4(GNPTG):c.611delG (p.Gly204Alafs)deletion Pathogenic 2795 rs193302856 16:1412611-1412611 16:1362610-1362610
3 GNPTG NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)deletion Pathogenic 2796 rs193302859 16:1412642-1412669 16:1362641-1362668
4 GNPTG NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)SNV Pathogenic 2797 rs137852884 16:1412054-1412054 16:1362053-1362053
5 GNPTG GNPTG, IVS8AS, A-G, -2SNV Pathogenic 2798
6 GNPTG NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)SNV Pathogenic 2799 rs137852885 16:1411955-1411955 16:1361954-1361954
7 GNPTG GNPTG, 1-BP DEL, 639Tdeletion Pathogenic 2800
8 GNPTG GNPTG, IVS8AS, G-T, -1SNV Pathogenic 2801
9 GNPTG NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)SNV Pathogenic 21713 rs193302848 16:1411761-1411761 16:1361760-1361760
10 GNPTG NM_032520.5(GNPTG):c.318-1G>CSNV Pathogenic 21714 rs193302847 16:1412038-1412038 16:1362037-1362037
11 GNPTG NM_032520.5(GNPTG):c.379_391del (p.Asp127fs)deletion Pathogenic 21716 rs193302850 16:1412099-1412111 16:1362098-1362110
12 GNPTG NM_032520.5(GNPTG):c.523dup (p.Leu175fs)duplication Pathogenic 21717 rs193302851 16:1412317-1412318 16:1362316-1362317
13 GNPTG NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs)insertion Pathogenic 21718 rs1555451988 16:1412534-1412535 16:1362533-1362534
14 GNPTG NM_032520.5(GNPTG):c.609+28_610-16deldeletion Pathogenic 21719 rs193302853 16:1412563-1412596 16:1362562-1362595
15 GNPTG NM_032520.5(GNPTG):c.610-1G>TSNV Pathogenic 21720 rs193302854 16:1412611-1412611 16:1362610-1362610
16 GNPTG NM_032520.5(GNPTG):c.610-2A>GSNV Pathogenic 21721 rs193302855 16:1412610-1412610 16:1362609-1362609
17 GNPTG NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs)insertion Pathogenic 21722 rs193302857 16:1412621-1412622 16:1362620-1362621
18 GNPTG NM_032520.5(GNPTG):c.639del (p.Phe213fs)deletion Pathogenic 21723 rs193302858 16:1412637-1412637 16:1362636-1362636
19 GNPTG NM_032520.5(GNPTG):c.527-10G>ASNV Pathogenic 30685 16:1412443-1412443 16:1362442-1362442
20 GNPTG NM_032520.5(GNPTG):c.445del (p.Ala149fs)deletion Pathogenic 39080 rs281864956 16:1412239-1412239 16:1362238-1362238
21 GNPTG NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)duplication Pathogenic 437454 rs756959430 16:1412288-1412289 16:1362287-1362288
22 GNPTG NM_032520.5(GNPTG):c.318-1G>ASNV Pathogenic 453175 rs193302847 16:1412038-1412038 16:1362037-1362037
23 GNPTG NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)SNV Pathogenic 554488 rs763678034 16:1412049-1412049 16:1362048-1362048
24 GNPTG NM_032520.5(GNPTG):c.233+2T>CSNV Likely pathogenic 558369 rs1555451608 16:1411800-1411800 16:1361799-1361799
25 GNPTG NM_032520.5(GNPTG):c.234-1G>ASNV Likely pathogenic 555879 rs112850896 16:1411872-1411872 16:1361871-1361871
26 GNPTG NM_032520.5(GNPTG):c.233+1G>TSNV Likely pathogenic 557240 rs376679416 16:1411799-1411799 16:1361798-1361798
27 GNPTG NM_032520.5(GNPTG):c.110+1G>ASNV Likely pathogenic 555853 rs1555450716 16:1402161-1402161 16:1352160-1352160
28 GNPTG NM_032520.5(GNPTG):c.233+1G>ASNV Likely pathogenic 552294 rs376679416 16:1411799-1411799 16:1361798-1361798
29 GNPTG NM_032520.5(GNPTG):c.233+5G>ASNV Likely pathogenic 397576 rs1060499691 16:1411803-1411803 16:1361802-1361802
30 GNPTG NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)SNV Likely pathogenic 397575 rs1060499690 16:1412045-1412045 16:1362044-1362044
31 GNPTG NM_032520.5(GNPTG):c.53-2A>GSNV Likely pathogenic 551781 rs779597308 16:1402101-1402101 16:1352100-1352100
32 GNPTG NM_032520.5(GNPTG):c.344_346ACA[1] (p.Asn116del)short repeat Likely pathogenic 21715 rs193302849 16:1412063-1412065 16:1362062-1362064
33 GNPTG NM_032520.5(GNPTG):c.412-1G>CSNV Likely pathogenic 554098 rs1555451866 16:1412206-1412206 16:1362205-1362205
34 GNPTG NM_032520.5(GNPTG):c.607dup (p.Gln203fs)duplication Likely pathogenic 553164 rs756225251 16:1412527-1412528 16:1362526-1362527
35 GNPTG NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)SNV Likely pathogenic 557574 rs1555452081 16:1412835-1412835 16:1362834-1362834
36 GNPTG NM_032520.5(GNPTG):c.823+1G>TSNV Likely pathogenic 558624 rs1385935677 16:1412908-1412908 16:1362907-1362907
37 GNPTG NM_032520.5(GNPTG):c.178+2T>CSNV Likely pathogenic 552397 rs1555450744 16:1402309-1402309 16:1352308-1352308
38 GNPTG NM_032520.5(GNPTG):c.233+2T>ASNV Likely pathogenic 555991 rs1555451608 16:1411800-1411800 16:1361799-1361799
39 GNPTG NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)deletion Likely pathogenic 554142 rs1555451643 16:1411880-1411881 16:1361879-1361880
40 GNPTG NM_032520.5(GNPTG):c.742-1G>ASNV Likely pathogenic 553814 rs373976323 16:1412825-1412825 16:1362824-1362824
41 GNPTG NM_032520.5(GNPTG):c.609+1G>CSNV Likely pathogenic 550057 rs1260510628 16:1412536-1412536 16:1362535-1362535
42 GNPTG NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)SNV Conflicting interpretations of pathogenicity 557735 rs1555450681 16:1401995-1401995 16:1351994-1351994
43 GNPTG NM_032520.5(GNPTG):c.742-1G>TSNV Conflicting interpretations of pathogenicity 552977 rs373976323 16:1412825-1412825 16:1362824-1362824
44 GNPTG NM_032520.5(GNPTG):c.857C>T (p.Thr286Met)SNV Conflicting interpretations of pathogenicity 21724 rs193302860 16:1413031-1413031 16:1363030-1363030
45 GNPTG NM_032520.5(GNPTG):c.255G>A (p.Pro85=)SNV Conflicting interpretations of pathogenicity 317881 rs76594024 16:1411894-1411894 16:1361893-1361893
46 GNPTG NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp)SNV Conflicting interpretations of pathogenicity 317882 rs200741370 16:1412115-1412115 16:1362114-1362114
47 GNPTG NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)SNV Conflicting interpretations of pathogenicity 317885 rs190614894 16:1412297-1412297 16:1362296-1362296
48 GNPTG NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)SNV Conflicting interpretations of pathogenicity 317889 rs202080062 16:1412715-1412715 16:1362714-1362714
49 GNPTG NM_032520.5(GNPTG):c.741+5C>TSNV Conflicting interpretations of pathogenicity 317890 rs201263537 16:1412748-1412748 16:1362747-1362747
50 GNPTG NM_032520.5(GNPTG):c.741+6G>ASNV Conflicting interpretations of pathogenicity 317891 rs371060844 16:1412749-1412749 16:1362748-1362748

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

GO Terms for Mucolipidosis Iii Gamma

Sources for Mucolipidosis Iii Gamma

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