MLIIIC
MCID: MCL016
MIFTS: 44

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 57 24 25 29 13 6 72
Pseudo-Hurler Polydystrophy 25 59 72
Mucolipidosis Type Iii 25 59
Mucolipidosis Iiic 57 25
Ml Iii Gamma 57 59
Ml Iiic 57 25
Mucolipidosis Type Iii Complementation Group C 74
Mucolipidosis Iii, Complementation Group C 57
Mucolipidosis Iii, Iranian Variant Form 57
Variant Pseudo Hurler Polydystrophy 24
Variant Pseudo-Hurler Polydystrophy 74
Mucolipidosis Iii, Variant Form 57
Mucolipidosis, Type Iii, Gamma 40
Mucolipidosis Type Iii Gamma 59
Mucolipidosis Iii, Variant 25
Mucolipidosis Type 3 Gamma 59
Mucolipidosis Iii C 24
Mucolipidosis Iii 25
Ml 3 Gamma 59
Mliiic 74

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
mucolipidosis iii gamma:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 252605
ICD10 via Orphanet 34 E77.0
UMLS via Orphanet 73 C0033788 C1854896
MedGen 42 C1854896
UMLS 72 C0033788 C1854896

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 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). 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 : 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)

UniProtKB/Swiss-Prot : 74 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

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:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
2 hypoplastic inferior ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008821
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
7 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
8 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
9 hearing abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000364
10 large iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008818
11 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
12 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
13 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
14 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
15 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
16 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
17 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
18 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
19 abnormal aortic valve morphology 32 occasional (7.5%) HP:0001646
20 short neck 32 HP:0000470
21 genu valgum 32 HP:0002857
22 scoliosis 32 HP:0002650
23 kyphosis 32 HP:0002808
24 pectus carinatum 32 HP:0000768
25 abnormal facial shape 59 Very frequent (99-80%)
26 intellectual disability, mild 32 HP:0001256
27 arthralgia 32 HP:0002829
28 dysostosis multiplex 32 HP:0000943
29 abnormal heart valve morphology 59 Occasional (29-5%)
30 malformation of the heart and great vessels 59 Frequent (79-30%)
31 opacification of the corneal stroma 32 HP:0007759
32 abnormality of the aortic valve 59 Occasional (29-5%)
33 abnormality of the hip bone 59 Very frequent (99-80%)
34 myopia 32 HP:0000545
35 abnormality of the hand 32 HP:0001155
36 aortic valve stenosis 32 HP:0001650
37 aortic regurgitation 32 HP:0001659
38 flared iliac wings 32 HP:0002869
39 flat capital femoral epiphysis 32 HP:0003370
40 increased serum iduronate sulfatase activity 32 HP:0003538
41 abnormality of the rib cage 32 HP:0001547
42 increased serum beta-hexosaminidase 32 HP:0003333

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone, Heart, Eye, Skin, Ovary, Testes, Kidney

Publications for Mucolipidosis Iii Gamma

Articles related to Mucolipidosis Iii Gamma:

(show top 50) (show all 92)
# Title Authors PMID Year
1
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. 38 4 8 71
20034096 2010
2
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. 38 4 8 71
19370764 2009
3
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) 38 4 8 71
10712439 2000
4
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. 4 8 71
19659762 2009
5
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. 38 4 71
16465621 2006
6
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 4 71
19197337 2009
7
Molecular order in mucolipidosis II and III nomenclature. 4 8
18203164 2008
8
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. 4 8
8940155 1996
9
Mucolipidosis III Gamma 38 71
20301784 2010
10
Mucolipidosis III Alpha/Beta 38 71
20301730 2008
11
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. 38 71
16094673 2005
12
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. 38 8
6309902 1983
13
Mucolipidosis III is genetically heterogeneous. 38 8
6961420 1982
14
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. 38 8
6461005 1981
15
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 71
20880125 2011
16
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. 38 4
20951619 2011
17
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 71
18190596 2008
18
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. 71
16116615 2005
19
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). 38 4
11891688 2002
20
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. 38 4
9077513 1997
21
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. 8
1309624 1992
22
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). 38 4
3777077 1986
23
Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. 8
3001079 1986
24
Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. 8
6287841 1982
25
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. 4
21792934 2011
26
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. 4
20147709 2010
27
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 4
19617216 2010
28
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. 4
19634183 2009
29
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma. 4
19708128 2009
30
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review. 4
19154518 2009
31
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 4
16630736 2006
32
Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion. 4
16041526 2005
33
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 4
16200072 2005
34
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. 4
15633164 2005
35
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. 4
15532026 2004
36
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. 4
15060128 2004
37
Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis. 4
12627421 2003
38
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. 4
12705498 2002
39
Mucolipidosis III presenting as a rheumatological disorder. 4
8441145 1993
40
The genetic mucolipidoses. Diagnosis and differential diagnosis. 4
4246487 1970
41
[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. 38
31188938 2019
42
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 38
30235039 2018
43
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 38
29900995 2018
44
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. 38
26935170 2016
45
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. 38
26108976 2015
46
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling. 38
27896079 2014
47
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. 38
25314316 2014
48
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. 38
22241869 2013
49
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. 38
16835905 2006
50
A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. 38
15361946 2004

Variations for Mucolipidosis Iii Gamma

ClinVar genetic disease variations for Mucolipidosis Iii Gamma:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNPTG NM_032520.4(GNPTG): c.499dup (p.Leu167Profs) duplication Pathogenic rs756959430 16:1412294-1412294 16:1362293-1362293
2 GNPTG NM_032520.5(GNPTG): c.328G> T (p.Glu110Ter) single nucleotide variant Pathogenic rs763678034 16:1412049-1412049 16:1362048-1362048
3 GNPTG GNPTG, 1-BP DEL, 639T deletion Pathogenic
4 GNPTG GNPTG, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
5 GNPTG GNPTG, 1-BP INS insertion Pathogenic
6 GNPTG NM_032520.4(GNPTG): c.611delG (p.Gly204Alafs) deletion Pathogenic rs193302856 16:1412613-1412613 16:1362612-1362612
7 GNPTG NM_032520.5(GNPTG): c.640_667del (p.Glu214fs) deletion Pathogenic rs193302859 16:1412642-1412669 16:1362641-1362668
8 GNPTG NM_032520.5(GNPTG): c.333G> A (p.Trp111Ter) single nucleotide variant Pathogenic rs137852884 16:1412054-1412054 16:1362053-1362053
9 GNPTG GNPTG, IVS8AS, A-G, -2 single nucleotide variant Pathogenic
10 GNPTG NM_032520.5(GNPTG): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852885 16:1411955-1411955 16:1361954-1361954
11 GNPTG NM_032520.5(GNPTG): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs193302848 16:1411761-1411761 16:1361760-1361760
12 GNPTG NM_032520.5(GNPTG): c.318-1G> C single nucleotide variant Pathogenic rs193302847 16:1412038-1412038 16:1362037-1362037
13 GNPTG NM_032520.5(GNPTG): c.379_391del (p.Asp127fs) deletion Pathogenic rs193302850 16:1412100-1412112 16:1362099-1362111
14 GNPTG NM_032520.5(GNPTG): c.523dup (p.Leu175fs) duplication Pathogenic rs193302851 16:1412318-1412318 16:1362317-1362317
15 GNPTG NM_032520.5(GNPTG): c.608_609insC (p.Gln203fs) insertion Pathogenic rs1555451988 16:1412534-1412535 16:1362533-1362534
16 GNPTG NM_032520.5(GNPTG): c.609+28_610-16del deletion Pathogenic rs193302853 16:1412563-1412596 16:1362562-1362595
17 GNPTG NM_032520.5(GNPTG): c.610-1G> T single nucleotide variant Pathogenic rs193302854 16:1412611-1412611 16:1362610-1362610
18 GNPTG NM_032520.5(GNPTG): c.610-2A> G single nucleotide variant Pathogenic rs193302855 16:1412610-1412610 16:1362609-1362609
19 GNPTG NM_032520.5(GNPTG): c.619_620insT (p.Lys207fs) insertion Pathogenic rs193302857 16:1412621-1412622 16:1362620-1362621
20 GNPTG NM_032520.5(GNPTG): c.639del (p.Phe213fs) deletion Pathogenic rs193302858 16:1412641-1412641 16:1362640-1362640
21 GNPTG GNPTG, IVS7AS, G-A, -10 single nucleotide variant Pathogenic
22 GNPTG NM_032520.5(GNPTG): c.445del (p.Ala149fs) deletion Pathogenic rs281864956 16:1412240-1412240 16:1362239-1362239
23 GNPTG NM_032520.5(GNPTG): c.318-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs193302847 16:1412038-1412038 16:1362037-1362037
24 GNPTG NM_032520.5(GNPTG): c.233+5G> A single nucleotide variant Likely pathogenic rs1060499691 16:1411803-1411803 16:1361802-1361802
25 GNPTG NM_032520.5(GNPTG): c.324G> A (p.Trp108Ter) single nucleotide variant Likely pathogenic rs1060499690 16:1412045-1412045 16:1362044-1362044
26 GNPTG NM_032520.5(GNPTG): c.53-2A> G single nucleotide variant Likely pathogenic rs779597308 16:1402101-1402101 16:1352100-1352100
27 GNPTG NM_032520.5(GNPTG): c.233+1G> T single nucleotide variant Likely pathogenic rs376679416 16:1411799-1411799 16:1361798-1361798
28 GNPTG NM_032520.5(GNPTG): c.110+1G> A single nucleotide variant Likely pathogenic rs1555450716 16:1402161-1402161 16:1352160-1352160
29 GNPTG NM_032520.5(GNPTG): c.233+1G> A single nucleotide variant Likely pathogenic rs376679416 16:1411799-1411799 16:1361798-1361798
30 GNPTG NM_032520.5(GNPTG): c.233+2T> C single nucleotide variant Likely pathogenic rs1555451608 16:1411800-1411800 16:1361799-1361799
31 GNPTG NM_032520.5(GNPTG): c.234-1G> A single nucleotide variant Likely pathogenic rs112850896 16:1411872-1411872 16:1361871-1361871
32 GNPTG NM_032520.5(GNPTG): c.412-1G> C single nucleotide variant Likely pathogenic rs1555451866 16:1412206-1412206 16:1362205-1362205
33 GNPTG NM_032520.5(GNPTG): c.607dup (p.Gln203fs) duplication Likely pathogenic rs756225251 16:1412527-1412527 16:1362532-1362532
34 GNPTG NM_032520.5(GNPTG): c.751G> T (p.Glu251Ter) single nucleotide variant Likely pathogenic rs1555452081 16:1412835-1412835 16:1362834-1362834
35 GNPTG NM_032520.5(GNPTG): c.823+1G> T single nucleotide variant Likely pathogenic rs1385935677 16:1412908-1412908 16:1362907-1362907
36 GNPTG NM_032520.5(GNPTG): c.344_346ACA[1] (p.Asn116del) short repeat Likely pathogenic rs193302849 16:1412068-1412070 16:1362067-1362069
37 GNPTG NM_032520.5(GNPTG): c.178+2T> C single nucleotide variant Likely pathogenic rs1555450744 16:1402309-1402309 16:1352308-1352308
38 GNPTG NM_032520.5(GNPTG): c.233+2T> A single nucleotide variant Likely pathogenic rs1555451608 16:1411800-1411800 16:1361799-1361799
39 GNPTG NM_032520.5(GNPTG): c.242_243del (p.Lys80_Tyr81insTer) deletion Likely pathogenic rs1555451643 16:1411879-1411881 16:1361880-1361881
40 GNPTG NM_032520.5(GNPTG): c.742-1G> A single nucleotide variant Likely pathogenic rs373976323 16:1412825-1412825 16:1362824-1362824
41 GNPTG NM_032520.5(GNPTG): c.609+1G> C single nucleotide variant Likely pathogenic rs1260510628 16:1412536-1412536 16:1362535-1362535
42 GNPTG NM_032520.5(GNPTG): c.742-1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs373976323 16:1412825-1412825 16:1362824-1362824
43 GNPTG NM_032520.5(GNPTG): c.857C> T (p.Thr286Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193302860 16:1413031-1413031 16:1363030-1363030
44 GNPTG NM_032520.5(GNPTG): c.29T> A (p.Leu10Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1555450681 16:1401995-1401995 16:1351994-1351994
45 GNPTG NM_032520.5(GNPTG): c.388C> T (p.Arg130Cys) single nucleotide variant Uncertain significance rs761584357 16:1412109-1412109 16:1362108-1362108
46 GNPTG NM_032520.5(GNPTG): c.551_556del (p.Leu184_Gln185del) deletion Uncertain significance rs1555451962 16:1412475-1412481 16:1362476-1362481
47 GNPTG NM_032520.5(GNPTG): c.557G> A (p.Arg186Gln) single nucleotide variant Uncertain significance rs139997459 16:1412483-1412483 16:1362482-1362482
48 GNPTG NM_032520.5(GNPTG): c.5_7CGG[1] (p.Ala3del) short repeat Uncertain significance rs1344845304 16:1401968-1401971 16:1351973-1351975
49 GNPTG NM_032520.5(GNPTG): c.814_816del (p.Arg272del) deletion Uncertain significance rs1555452112 16:1412896-1412899 16:1362897-1362899
50 GNPTG NM_032520.5(GNPTG): c.750dup (p.Glu251fs) duplication Uncertain significance rs758242017 16:1412831-1412831 16:1362833-1362833

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

74
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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28 GO
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30 HGMD
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34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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