MLIIIC
MCID: MCL016
MIFTS: 42

Mucolipidosis Iii Gamma (MLIIIC)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Gastrointestinal 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 58 25 26 30 13 6 74
Pseudo-Hurler Polydystrophy 26 60 74
Mucolipidosis Type Iii 26 60
Mucolipidosis Iiic 58 26
Ml Iii Gamma 58 60
Ml Iiic 58 26
Mucolipidosis Type Iii Complementation Group C 76
Mucolipidosis Iii, Complementation Group C 58
Mucolipidosis Iii, Iranian Variant Form 58
Variant Pseudo Hurler Polydystrophy 25
Variant Pseudo-Hurler Polydystrophy 76
Mucolipidosis Iii, Variant Form 58
Mucolipidosis, Type Iii, Gamma 41
Mucolipidosis Type Iii Gamma 60
Mucolipidosis Iii, Variant 26
Mucolipidosis Type 3 Gamma 60
Mucolipidosis Iii C 25
Mucolipidosis Iii 26
Ml 3 Gamma 60
Mliiic 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
mucolipidosis iii gamma:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucolipidosis Iii Gamma

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Mucolipidosis Iii Gamma, also known as pseudo-hurler polydystrophy, is related to mucolipidosis iii alpha/beta 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 drugs Peginterferon alfa-2a and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are craniofacial hyperostosis and hypoplastic inferior ilia

Genetics Home Reference : 26 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.

OMIM : 58 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)

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 20)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii alpha/beta 12.9
2 mucolipidoses 11.2
3 mucolipidosis ii alpha/beta 10.9
4 mucolipidosis 10.4
5 tuberous sclerosis 10.0
6 kidney disease 10.0
7 polycystic kidney disease 10.0
8 mucopolysaccharidosis-plus syndrome 10.0
9 lysosomal storage disease 10.0
10 atrial standstill 1 10.0
11 carpal tunnel syndrome 10.0
12 mononeuropathy of the median nerve, mild 10.0
13 bardet-biedl syndrome 2 10.0
14 bardet-biedl syndrome 10 10.0
15 bardet-biedl syndrome 11 10.0
16 bardet-biedl syndrome 12 10.0
17 dilated cardiomyopathy 10.0
18 bardet-biedl syndrome 10.0
19 sensory peripheral neuropathy 10.0
20 neuropathy 10.0

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:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004493
2 hypoplastic inferior ilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008821
3 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
4 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
7 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
8 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
9 hearing abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000364
10 large iliac wings 60 33 hallmark (90%) Very frequent (99-80%) HP:0008818
11 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
12 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
13 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
14 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
15 acne 60 33 frequent (33%) Frequent (79-30%) HP:0001061
16 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
17 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
18 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
19 abnormal aortic valve morphology 33 occasional (7.5%) HP:0001646
20 short neck 33 HP:0000470
21 genu valgum 33 HP:0002857
22 scoliosis 33 HP:0002650
23 kyphosis 33 HP:0002808
24 pectus carinatum 33 HP:0000768
25 abnormal facial shape 60 Very frequent (99-80%)
26 intellectual disability, mild 33 HP:0001256
27 arthralgia 33 HP:0002829
28 dysostosis multiplex 33 HP:0000943
29 abnormality of the heart valves 60 Occasional (29-5%)
30 malformation of the heart and great vessels 60 Frequent (79-30%)
31 opacification of the corneal stroma 33 HP:0007759
32 abnormality of the aortic valve 60 Occasional (29-5%)
33 abnormality of the hip bone 60 Very frequent (99-80%)
34 myopia 33 HP:0000545
35 abnormality of the hand 33 HP:0001155
36 aortic valve stenosis 33 HP:0001650
37 aortic regurgitation 33 HP:0001659
38 flared iliac wings 33 HP:0002869
39 flat capital femoral epiphysis 33 HP:0003370
40 increased serum iduronate sulfatase activity 33 HP:0003538
41 increased serum beta-hexosaminidase 33 HP:0003333
42 abnormality of the rib cage 33 HP:0001547

Symptoms via clinical synopsis from OMIM:

58
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

Laboratory Abnormalities:
no mucopolysacchariduria
increased serum arylsulfatase a.
increased serum beta-hexosaminidase
increased serum alpha-mannosidase
increased serum iduronate sulfatase
more
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

Head And Neck Face:
coarse face

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):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3 Interferon-alpha Phase 4
4 Immunologic Factors Phase 4
5 Anti-Infective Agents Phase 4
6 Antiviral Agents Phase 4
7 interferons Phase 4
8 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 HBsAg Related Response Guided Therapy Unknown status NCT01456312 Phase 4 Peginterferon alfa-2a;Entecavir
2 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

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 30 GNPTG

Anatomical Context for Mucolipidosis Iii Gamma

MalaCards organs/tissues related to Mucolipidosis Iii Gamma:

42
Bone, Skin, Kidney, Heart, Testes, Eye

Publications for Mucolipidosis Iii Gamma

Articles related to Mucolipidosis Iii Gamma:

(show all 40)
# Title Authors Year
1
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. ( 30235039 )
2018
2
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. ( 26935170 )
2016
3
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. ( 26108976 )
2015
4
Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. ( 25314316 )
2014
5
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling. ( 27896079 )
2014
6
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. ( 20034096 )
2010
7
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. ( 19370764 )
2009
8
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. ( 19659762 )
2009
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. ( 16465621 )
2006
10
Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy). ( 14555827 )
2003
11
Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). ( 11891688 )
2002
12
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. ( 12564313 )
2002
13
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) ( 10712439 )
2000
14
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. ( 9077513 )
1997
15
Connective tissue naevus with pseudo-Hurler polydystrophy. ( 8186124 )
1994
16
Phosphorylation and subcellular location of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 8286862 )
1993
17
Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features. ( 1788443 )
1991
18
Biosynthesis, processing, and secretion of alpha-L-fucosidase in lymphoid cells from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 1822239 )
1991
19
Impaired cholesterol esterification in cultured skin fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy. ( 2751679 )
1989
20
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. ( 2829837 )
1987
21
Mucolipidosis type III (pseudo-Hurler polydystrophy): conservative treatment of myofascial pain dysfunction syndrome with the sterling silver splint. ( 3459118 )
1986
22
Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). ( 3777077 )
1986
23
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies. ( 3017692 )
1986
24
I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants. ( 2998644 )
1985
25
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. ( 6289658 )
1982
26
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. ( 6461005 )
1981
27
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. ( 6262380 )
1981
28
Acid acylhydrolase deficiency in I-cell disease and pseudo-Hurler polydystrophy. ( 42439 )
1979
29
Mucolipidosis III (pseudo-Hurler polydystrophy): report of case. ( 701114 )
1978
30
Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudo-Hurler polydystrophy). ( 803649 )
1975
31
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. ( 810612 )
1975
32
Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis. 3 (pseudo-Hurler polydystrophy). ( 4208016 )
1974
33
Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study. ( 4213328 )
1974
34
Mucolipidosis III (pseudo-Hurler polydystrophy). ( 4282263 )
1974
35
Roentgen findings of pseudo-Hurler polydystrophy in the adult, with a note on cephalometric changes. ( 4214401 )
1974
36
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. ( 4200718 )
1973
37
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. ( 4201594 )
1973
38
Dermatological aspects of pseudo-Hurler polydystrophy (mucolipidosis 3). ( 4202776 )
1973
39
Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). ( 4264747 )
1973
40
Conjunctival ultrastructure in mucolipidosis 3 (pseudo-Hurler polydystrophy). ( 4255138 )
1971

Variations for Mucolipidosis Iii Gamma

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

76
# 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

ClinVar genetic disease variations for Mucolipidosis Iii Gamma:

6 (show top 50) (show all 191)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTG GNPTG, 1-BP INS insertion Pathogenic
2 GNPTG NM_032520.4(GNPTG): c.611delG (p.Gly204Alafs) deletion Pathogenic rs193302856 GRCh37 Chromosome 16, 1412613: 1412613
3 GNPTG NM_032520.4(GNPTG): c.611delG (p.Gly204Alafs) deletion Pathogenic rs193302856 GRCh38 Chromosome 16, 1362612: 1362612
4 GNPTG NM_032520.4(GNPTG): c.640_667del28 (p.Glu214Lysfs) deletion Pathogenic rs193302859 GRCh37 Chromosome 16, 1412642: 1412669
5 GNPTG NM_032520.4(GNPTG): c.640_667del28 (p.Glu214Lysfs) deletion Pathogenic rs193302859 GRCh38 Chromosome 16, 1362641: 1362668
6 GNPTG NM_032520.4(GNPTG): c.333G> A (p.Trp111Ter) single nucleotide variant Pathogenic rs137852884 GRCh37 Chromosome 16, 1412054: 1412054
7 GNPTG NM_032520.4(GNPTG): c.333G> A (p.Trp111Ter) single nucleotide variant Pathogenic rs137852884 GRCh38 Chromosome 16, 1362053: 1362053
8 GNPTG GNPTG, IVS8AS, A-G, -2 single nucleotide variant Pathogenic
9 GNPTG NM_032520.4(GNPTG): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852885 GRCh37 Chromosome 16, 1411955: 1411955
10 GNPTG NM_032520.4(GNPTG): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852885 GRCh38 Chromosome 16, 1361954: 1361954
11 GNPTG GNPTG, 1-BP DEL, 639T deletion Pathogenic
12 GNPTG GNPTG, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
13 GNPTG NM_032520.4(GNPTG): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs193302848 GRCh37 Chromosome 16, 1411761: 1411761
14 GNPTG NM_032520.4(GNPTG): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs193302848 GRCh38 Chromosome 16, 1361760: 1361760
15 GNPTG NM_032520.4(GNPTG): c.318-1G> C single nucleotide variant Pathogenic rs193302847 GRCh37 Chromosome 16, 1412038: 1412038
16 GNPTG NM_032520.4(GNPTG): c.318-1G> C single nucleotide variant Pathogenic rs193302847 GRCh38 Chromosome 16, 1362037: 1362037
17 GNPTG NM_032520.4(GNPTG): c.347_349delACA (p.Asn116del) deletion Pathogenic rs193302849 GRCh37 Chromosome 16, 1412068: 1412070
18 GNPTG NM_032520.4(GNPTG): c.347_349delACA (p.Asn116del) deletion Pathogenic rs193302849 GRCh38 Chromosome 16, 1362067: 1362069
19 GNPTG NM_032520.4(GNPTG): c.379_391delGACGCCTGCCGTT (p.Asp127Profs) deletion Pathogenic rs193302850 GRCh37 Chromosome 16, 1412100: 1412112
20 GNPTG NM_032520.4(GNPTG): c.379_391delGACGCCTGCCGTT (p.Asp127Profs) deletion Pathogenic rs193302850 GRCh38 Chromosome 16, 1362099: 1362111
21 GNPTG NM_032520.4(GNPTG): c.523dupC (p.Leu175Profs) duplication Pathogenic rs193302851 GRCh37 Chromosome 16, 1412318: 1412318
22 GNPTG NM_032520.4(GNPTG): c.523dupC (p.Leu175Profs) duplication Pathogenic rs193302851 GRCh38 Chromosome 16, 1362317: 1362317
23 GNPTG NM_032520.4(GNPTG): c.608_609insC (p.Gln203Hisfs) insertion Pathogenic rs1555451988 GRCh37 Chromosome 16, 1412534: 1412535
24 GNPTG NM_032520.4(GNPTG): c.608_609insC (p.Gln203Hisfs) insertion Pathogenic rs1555451988 GRCh38 Chromosome 16, 1362533: 1362534
25 GNPTG NM_032520.4(GNPTG): c.609+28_610-16del deletion Pathogenic rs193302853 GRCh37 Chromosome 16, 1412563: 1412596
26 GNPTG NM_032520.4(GNPTG): c.609+28_610-16del deletion Pathogenic rs193302853 GRCh38 Chromosome 16, 1362562: 1362595
27 GNPTG NM_032520.4(GNPTG): c.610-1G> T single nucleotide variant Pathogenic rs193302854 GRCh37 Chromosome 16, 1412611: 1412611
28 GNPTG NM_032520.4(GNPTG): c.610-1G> T single nucleotide variant Pathogenic rs193302854 GRCh38 Chromosome 16, 1362610: 1362610
29 GNPTG NM_032520.4(GNPTG): c.610-2A> G single nucleotide variant Pathogenic rs193302855 GRCh37 Chromosome 16, 1412610: 1412610
30 GNPTG NM_032520.4(GNPTG): c.610-2A> G single nucleotide variant Pathogenic rs193302855 GRCh38 Chromosome 16, 1362609: 1362609
31 GNPTG NM_032520.4(GNPTG): c.619_620insT (p.Lys207Ilefs) insertion Pathogenic rs193302857 GRCh37 Chromosome 16, 1412621: 1412622
32 GNPTG NM_032520.4(GNPTG): c.619_620insT (p.Lys207Ilefs) insertion Pathogenic rs193302857 GRCh38 Chromosome 16, 1362620: 1362621
33 GNPTG NM_032520.4(GNPTG): c.639delT (p.Phe213Leufs) deletion Pathogenic rs193302858 GRCh37 Chromosome 16, 1412641: 1412641
34 GNPTG NM_032520.4(GNPTG): c.639delT (p.Phe213Leufs) deletion Pathogenic rs193302858 GRCh38 Chromosome 16, 1362640: 1362640
35 GNPTG NM_032520.4(GNPTG): c.857C> T (p.Thr286Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193302860 GRCh37 Chromosome 16, 1413031: 1413031
36 GNPTG NM_032520.4(GNPTG): c.857C> T (p.Thr286Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193302860 GRCh38 Chromosome 16, 1363030: 1363030
37 GNPTG GNPTG, IVS7AS, G-A, -10 single nucleotide variant Pathogenic
38 GNPTG NM_032520.4(GNPTG): c.445delG (p.Ala149Profs) deletion Pathogenic rs281864956 GRCh37 Chromosome 16, 1412240: 1412240
39 GNPTG NM_032520.4(GNPTG): c.445delG (p.Ala149Profs) deletion Pathogenic rs281864956 GRCh38 Chromosome 16, 1362239: 1362239
40 GNPTG NM_032520.4(GNPTG): c.74C> A (p.Ala25Glu) single nucleotide variant Uncertain significance rs137853826 GRCh37 Chromosome 16, 1402124: 1402124
41 GNPTG NM_032520.4(GNPTG): c.74C> A (p.Ala25Glu) single nucleotide variant Uncertain significance rs137853826 GRCh38 Chromosome 16, 1352123: 1352123
42 GNPTG NM_032520.4(GNPTG): c.6G> T (p.Ala2=) single nucleotide variant Uncertain significance rs886051658 GRCh38 Chromosome 16, 1351971: 1351971
43 GNPTG NM_032520.4(GNPTG): c.6G> T (p.Ala2=) single nucleotide variant Uncertain significance rs886051658 GRCh37 Chromosome 16, 1401972: 1401972
44 GNPTG NM_032520.4(GNPTG): c.835T> G (p.Leu279Val) single nucleotide variant Uncertain significance rs886051684 GRCh38 Chromosome 16, 1363008: 1363008
45 GNPTG NM_032520.4(GNPTG): c.835T> G (p.Leu279Val) single nucleotide variant Uncertain significance rs886051684 GRCh37 Chromosome 16, 1413009: 1413009
46 GNPTG NM_032520.4(GNPTG): c.*27C> T single nucleotide variant Uncertain significance rs189677035 GRCh38 Chromosome 16, 1363118: 1363118
47 GNPTG NM_032520.4(GNPTG): c.*27C> T single nucleotide variant Uncertain significance rs189677035 GRCh37 Chromosome 16, 1413119: 1413119
48 GNPTG NM_032520.4(GNPTG): c.*112_*116delACAAA deletion Uncertain significance rs886051685 GRCh38 Chromosome 16, 1363203: 1363207
49 GNPTG NM_032520.4(GNPTG): c.*112_*116delACAAA deletion Uncertain significance rs886051685 GRCh37 Chromosome 16, 1413204: 1413208
50 GNPTG NM_032520.4(GNPTG): c.*224T> C single nucleotide variant Likely benign rs7192408 GRCh38 Chromosome 16, 1363315: 1363315

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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