MCID: MCL016
MIFTS: 40

Mucolipidosis Iii Gamma

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

Aliases & Classifications for Mucolipidosis Iii Gamma

MalaCards integrated aliases for Mucolipidosis Iii Gamma:

Name: Mucolipidosis Iii Gamma 54 23 24 25 29 13 69
Pseudo-Hurler Polydystrophy 25 56 69
Variant Pseudo Hurler Polydystrophy 23 24
Mucolipidosis Type Iii 25 56
Mucolipidosis Iii C 23 24
Mucolipidosis Type Iii Complementation Group C 71
Variant Pseudo-Hurler Polydystrophy 71
Mucolipidosis Type Iii Gamma 56
Mucolipidosis Iii, Variant 25
Mucolipidosis Type 3 Gamma 56
Mucolipidosis Iiic 25
Mucolipidosis Iii 25
Ml Iii Gamma 56
Ml 3 Gamma 56
Ml Iiic 25
Mliiic 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:



Summaries for Mucolipidosis Iii Gamma

UniProtKB/Swiss-Prot : 71 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 short stature, visual impairment and acne. An important gene associated with Mucolipidosis Iii Gamma is GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Gamma Subunit), and among its related pathways/superpathways is Lysosome. Affiliated tissues include bone, heart and kidney.

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.

OMIM : 54
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

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



Diseases related to Mucolipidosis Iii Gamma

Symptoms & Phenotypes for Mucolipidosis Iii Gamma

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
myopia
fine corneal opacities

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck- Neck:
short neck

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- Spine:
scoliosis
kyphosis
lordosis

Skeletal:
dysostosis multiplex
joint pain
joint stiffness, progressive

Skeletal- Limbs:
genu valgum
shoulder stiffness

Head And Neck- Face:
coarse face

Cardiovascular- Heart:
aortic stenosis
aortic valve thickening
aortic regurgitation

Skeletal- Hands:
claw-hand deformity
hand stiffness

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


Clinical features from OMIM:

252605

Human phenotypes related to Mucolipidosis Iii Gamma:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
3 acne 56 32 frequent (33%) Frequent (79-30%) HP:0001061
4 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
5 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
6 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 fatigue 56 32 occasional (7.5%) Occasional (29-5%) HP:0012378
8 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
9 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 hyperlordosis 56 32 frequent (33%) Frequent (79-30%) HP:0003307
11 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
12 hypoplastic inferior ilia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008821
13 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
14 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
15 abnormal form of the vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003312
16 hearing abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000364
17 abnormality of the aortic valve 56 32 occasional (7.5%) Occasional (29-5%) HP:0001646
18 reduced bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0004349
19 large iliac wings 56 32 hallmark (90%) Very frequent (99-80%) HP:0008818
20 scoliosis 32 HP:0002650
21 myopia 32 HP:0000545
22 dysostosis multiplex 32 HP:0000943
23 kyphosis 32 HP:0002808
24 pectus carinatum 32 HP:0000768
25 genu valgum 32 HP:0002857
26 short neck 32 HP:0000470
27 intellectual disability, mild 32 HP:0001256
28 flared iliac wings 32 HP:0002869
29 arthralgia 32 HP:0002829
30 aortic regurgitation 32 HP:0001659
31 aortic valve stenosis 32 HP:0001650
32 increased serum beta-hexosaminidase 32 HP:0003333
33 abnormal facial shape 56 Very frequent (99-80%)
34 abnormality of the heart valves 56 Occasional (29-5%)
35 malformation of the heart and great vessels 56 Frequent (79-30%)
36 opacification of the corneal stroma 32 HP:0007759
37 abnormality of the hip bone 56 Very frequent (99-80%)
38 abnormality of the hand 32 HP:0001155
39 flat capital femoral epiphysis 32 HP:0003370
40 abnormality of the rib cage 32 HP:0001547

UMLS symptoms related to Mucolipidosis Iii Gamma:


stiff shoulders, thick skin, arthralgia

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:

id Genetic test Affiliating Genes
1 Mucolipidosis Iii Gamma 29 24 GNPTG

Anatomical Context for Mucolipidosis Iii Gamma

MalaCards organs/tissues related to Mucolipidosis Iii Gamma:

39
Bone, Heart, Kidney

Publications for Mucolipidosis Iii Gamma

Articles related to Mucolipidosis Iii Gamma:

id Title Authors Year
1
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. ( 26935170 )
2016
2
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation. ( 26108976 )
2015
3
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling. ( 27896079 )
2014
4
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
5
Mucolipidosis III Gamma ( 20301784 )
1993

Variations for Mucolipidosis Iii Gamma

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

71
id 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 61)
id Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.771G> A (p.Leu257=) single nucleotide variant Pathogenic rs281865025 GRCh37 Chromosome 12, 102173930: 102173930
2 GNPTAB NM_024312.4(GNPTAB): c.1220A> C (p.Asp407Ala) single nucleotide variant Pathogenic rs137852895 GRCh37 Chromosome 12, 102163863: 102163863
3 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
4 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh37 Chromosome 12, 102157979: 102157979
5 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh37 Chromosome 12, 102158120: 102158121
6 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
7 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
8 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
9 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
10 GNPTG NM_032520.4(GNPTG): c.333G> A (p.Trp111Ter) single nucleotide variant Pathogenic rs137852884 GRCh38 Chromosome 16, 1362053: 1362053
11 GNPTG GNPTG, 1-BP INS insertion Pathogenic
12 GNPTG NM_032520.4(GNPTG): c.611delG (p.Gly204Alafs) deletion Pathogenic rs193302856 GRCh37 Chromosome 16, 1412613: 1412613
13 GNPTG NM_032520.4(GNPTG): c.640_667del28 (p.Glu214Lysfs) deletion Pathogenic rs193302859 GRCh37 Chromosome 16, 1412642: 1412669
14 GNPTG GNPTG, IVS8AS, A-G, -2 single nucleotide variant Pathogenic
15 GNPTG NM_032520.4(GNPTG): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852885 GRCh37 Chromosome 16, 1411955: 1411955
16 GNPTG GNPTG, 1-BP DEL, 639T deletion Pathogenic
17 GNPTG GNPTG, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
18 GNPTG NM_032520.4(GNPTG): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs193302848 GRCh37 Chromosome 16, 1411761: 1411761
19 GNPTG NM_032520.4(GNPTG): c.318-1G> C single nucleotide variant Pathogenic rs193302847 GRCh37 Chromosome 16, 1412038: 1412038
20 GNPTG NM_032520.4(GNPTG): c.347_349delACA (p.Asn116del) deletion Pathogenic rs193302849 GRCh37 Chromosome 16, 1412068: 1412070
21 GNPTG NM_032520.4(GNPTG): c.379_391delGACGCCTGCCGTT (p.Asp127Profs) deletion Pathogenic rs193302850 GRCh37 Chromosome 16, 1412100: 1412112
22 GNPTG NM_032520.4(GNPTG): c.523dupC (p.Leu175Profs) duplication Pathogenic rs193302851 GRCh37 Chromosome 16, 1412318: 1412318
23 GNPTG NM_032520.4(GNPTG): c.608_609insC (p.Gln203Hisfs) insertion Pathogenic rs193302852 GRCh37 Chromosome 16, 1412534: 1412535
24 GNPTG NM_032520.4(GNPTG): c.609+28_610-16del deletion Pathogenic rs193302853 GRCh37 Chromosome 16, 1412563: 1412596
25 GNPTG NM_032520.4(GNPTG): c.610-1G> T single nucleotide variant Pathogenic rs193302854 GRCh37 Chromosome 16, 1412611: 1412611
26 GNPTG NM_032520.4(GNPTG): c.610-2A> G single nucleotide variant Pathogenic rs193302855 GRCh37 Chromosome 16, 1412610: 1412610
27 GNPTG NM_032520.4(GNPTG): c.619_620insT (p.Lys207Ilefs) insertion Pathogenic rs193302857 GRCh37 Chromosome 16, 1412621: 1412622
28 GNPTG NM_032520.4(GNPTG): c.639delT (p.Phe213Leufs) deletion Pathogenic rs193302858 GRCh37 Chromosome 16, 1412641: 1412641
29 GNPTG NM_032520.4(GNPTG): c.857C> T (p.Thr286Met) single nucleotide variant Pathogenic rs193302860 GRCh37 Chromosome 16, 1413031: 1413031
30 GNPTG GNPTG, IVS7AS, G-A, -10 single nucleotide variant Pathogenic
31 GNPTAB NM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 GRCh37 Chromosome 12, 102163887: 102163887
32 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh37 Chromosome 12, 102158710: 102158710
33 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
34 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
35 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
36 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh37 Chromosome 12, 102163875: 102163875
37 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh37 Chromosome 12, 102161940: 102161940
38 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh37 Chromosome 12, 102161898: 102161898
39 GNPTAB NM_024312.4(GNPTAB): c.1385_1386insA (p.Asp462Glufs) insertion Pathogenic rs281864978 GRCh37 Chromosome 12, 102161838: 102161838
40 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
41 GNPTAB NM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter) single nucleotide variant Pathogenic rs281864950 GRCh37 Chromosome 12, 102190490: 102190490
42 GNPTAB NM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del) deletion Pathogenic rs281864952 GRCh37 Chromosome 12, 102183805: 102183807
43 GNPTAB NM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu) single nucleotide variant Pathogenic rs281864953 GRCh37 Chromosome 12, 102183797: 102183797
44 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Pathogenic/Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
45 GNPTAB NM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs) deletion Pathogenic rs281865000 GRCh37 Chromosome 12, 102158002: 102158002
46 GNPTAB NM_024312.4(GNPTAB): c.2715+2T> G single nucleotide variant Pathogenic rs281865001 GRCh37 Chromosome 12, 102157978: 102157978
47 GNPTAB NM_024312.4(GNPTAB): c.2777A> C (p.Gln926Pro) single nucleotide variant Pathogenic rs281865002 GRCh37 Chromosome 12, 102155480: 102155480
48 GNPTAB NM_024312.4(GNPTAB): c.2866C> T (p.His956Tyr) single nucleotide variant Pathogenic rs281865004 GRCh37 Chromosome 12, 102155391: 102155391
49 GNPTAB NM_024312.4(GNPTAB): c.2867A> G (p.His956Arg) single nucleotide variant Pathogenic rs281865005 GRCh37 Chromosome 12, 102155390: 102155390
50 GNPTAB NM_024312.4(GNPTAB): c.3443_3446delTTTG (p.Val1148Alafs) deletion Pathogenic rs281865018 GRCh37 Chromosome 12, 102147306: 102147309

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:

id Super pathways Score Top Affiliating Genes
1 10.71 GNPTAB GNPTG

GO Terms for Mucolipidosis Iii Gamma

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

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 8.96 GNPTAB GNPTG
2 Golgi membrane GO:0000139 8.62 GNPTAB GNPTG

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate phosphorylation GO:0046835 8.96 GNPTAB GNPTG
2 N-glycan processing to lysosome GO:0016256 8.62 GNPTAB GNPTG

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

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

Sources for Mucolipidosis Iii Gamma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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