MCID: MCL016
MIFTS: 39

Mucolipidosis Iii Gamma

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

Aliases & Classifications for Mucolipidosis Iii Gamma

MalaCards integrated aliases for Mucolipidosis Iii Gamma:

Name: Mucolipidosis Iii Gamma 53 23 24 28 13 69
Pseudo-Hurler Polydystrophy 24 55 69
Mucolipidosis Type Iii 24 55
Mucolipidosis Iiic 53 24
Ml Iii Gamma 53 55
Ml Iiic 53 24
Mucolipidosis Type Iii Complementation Group C 71
Mucolipidosis Iii, Complementation Group C 53
Mucolipidosis Iii, Iranian Variant Form 53
Variant Pseudo Hurler Polydystrophy 23
Variant Pseudo-Hurler Polydystrophy 71
Mucolipidosis Iii, Variant Form 53
Mucolipidosis Type Iii Gamma 55
Mucolipidosis Iii, Variant 24
Mucolipidosis Type 3 Gamma 55
Mucolipidosis Iii C 23
Mucolipidosis Iii 24
Ml 3 Gamma 55
Mliiic 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:



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 tuberous sclerosis, and has symptoms including fatigue, joint stiffness and hyperlordosis. 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 skin.

Genetics Home Reference : 24 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 : 53 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 Iv family:

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

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii alpha/beta 29.5 GNPTAB GNPTG
2 tuberous sclerosis 9.9
3 kidney disease 9.9
4 polycystic kidney disease 9.9
5 inclusion-cell disease 9.7 GNPTAB GNPTG
6 articulation disorder 9.7 GNPTAB GNPTG
7 mucolipidosis ii alpha/beta 9.7 GNPTAB GNPTG
8 speech disorder 9.6 GNPTAB GNPTG
9 stuttering 9.6 GNPTAB GNPTG
10 autosomal recessive disease 9.5 GNPTAB GNPTG
11 dyslexia 9.4 GNPTAB GNPTG

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:

53
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 RibsSternum 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

Human phenotypes related to Mucolipidosis Iii Gamma:

55 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 occasional (7.5%) Occasional (29-5%) HP:0012378
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 hyperlordosis 55 31 frequent (33%) Frequent (79-30%) HP:0003307
4 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
5 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
6 craniofacial hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004493
7 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
8 hypoplastic inferior ilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008821
9 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
10 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
12 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
13 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
14 prominent occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0000269
15 hearing abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000364
16 acne 55 31 frequent (33%) Frequent (79-30%) HP:0001061
17 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
18 large iliac wings 55 31 hallmark (90%) Very frequent (99-80%) HP:0008818
19 arthralgia 31 HP:0002829
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 55 Very frequent (99-80%)
26 intellectual disability, mild 31 HP:0001256
27 dysostosis multiplex 31 HP:0000943
28 abnormality of the heart valves 55 Occasional (29-5%)
29 malformation of the heart and great vessels 55 Frequent (79-30%)
30 opacification of the corneal stroma 31 HP:0007759
31 abnormality of the aortic valve 55 Occasional (29-5%)
32 abnormality of the hip bone 55 Very frequent (99-80%)
33 myopia 31 HP:0000545
34 abnormality of the hand 31 HP:0001155
35 aortic valve stenosis 31 HP:0001650
36 aortic regurgitation 31 HP:0001659
37 flared iliac wings 31 HP:0002869
38 flat capital femoral epiphysis 31 HP:0003370
39 increased serum beta-hexosaminidase 31 HP:0003333
40 abnormality of the rib cage 31 HP:0001547
41 increased serum iduronate sulfatase activity 31 HP:0003538
42 abnormal aortic valve morphology 31 occasional (7.5%) HP:0001646

UMLS symptoms related to Mucolipidosis Iii Gamma:


stiff shoulders, arthralgia, 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 Iii Gamma 28 GNPTG

Anatomical Context for Mucolipidosis Iii Gamma

MalaCards organs/tissues related to Mucolipidosis Iii Gamma:

38
Bone, Heart, Skin, Kidney

Publications for Mucolipidosis Iii Gamma

Articles related to Mucolipidosis Iii Gamma:

# 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
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTG NM_032520.4(GNPTG): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs193302848 GRCh37 Chromosome 16, 1411761: 1411761
2 GNPTG NM_032520.4(GNPTG): c.318-1G> C single nucleotide variant Pathogenic rs193302847 GRCh37 Chromosome 16, 1412038: 1412038
3 GNPTG NM_032520.4(GNPTG): c.347_349delACA (p.Asn116del) deletion Pathogenic rs193302849 GRCh37 Chromosome 16, 1412068: 1412070
4 GNPTG NM_032520.4(GNPTG): c.379_391delGACGCCTGCCGTT (p.Asp127Profs) deletion Pathogenic rs193302850 GRCh37 Chromosome 16, 1412100: 1412112
5 GNPTG NM_032520.4(GNPTG): c.523dupC (p.Leu175Profs) duplication Pathogenic rs193302851 GRCh37 Chromosome 16, 1412318: 1412318
6 GNPTG NM_032520.4(GNPTG): c.608_609insC (p.Gln203Hisfs) insertion Pathogenic rs193302852 GRCh37 Chromosome 16, 1412534: 1412535
7 GNPTG NM_032520.4(GNPTG): c.609+28_610-16del deletion Pathogenic rs193302853 GRCh37 Chromosome 16, 1412563: 1412596
8 GNPTG NM_032520.4(GNPTG): c.610-1G> T single nucleotide variant Pathogenic rs193302854 GRCh37 Chromosome 16, 1412611: 1412611
9 GNPTG NM_032520.4(GNPTG): c.610-2A> G single nucleotide variant Pathogenic rs193302855 GRCh37 Chromosome 16, 1412610: 1412610
10 GNPTG NM_032520.4(GNPTG): c.619_620insT (p.Lys207Ilefs) insertion Pathogenic rs193302857 GRCh37 Chromosome 16, 1412621: 1412622
11 GNPTG NM_032520.4(GNPTG): c.639delT (p.Phe213Leufs) deletion Pathogenic rs193302858 GRCh37 Chromosome 16, 1412641: 1412641
12 GNPTG NM_032520.4(GNPTG): c.857C> T (p.Thr286Met) single nucleotide variant Pathogenic rs193302860 GRCh37 Chromosome 16, 1413031: 1413031
13 GNPTG GNPTG, IVS7AS, G-A, -10 single nucleotide variant Pathogenic
14 GNPTAB NM_024312.4(GNPTAB): c.1196C> T (p.Ser399Phe) single nucleotide variant Pathogenic rs281865026 GRCh37 Chromosome 12, 102163887: 102163887
15 GNPTAB NM_024312.4(GNPTAB): c.1985C> G (p.Ala662Gly) single nucleotide variant Pathogenic rs142172397 GRCh37 Chromosome 12, 102158710: 102158710
16 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
17 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
18 GNPTAB NM_024312.4(GNPTAB): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
19 GNPTAB NM_024312.4(GNPTAB): c.1208T> C (p.Ile403Thr) single nucleotide variant Pathogenic rs281864973 GRCh37 Chromosome 12, 102163875: 102163875
20 GNPTAB NM_024312.4(GNPTAB): c.1285-2A> G single nucleotide variant Pathogenic rs281864974 GRCh37 Chromosome 12, 102161940: 102161940
21 GNPTAB NM_024312.4(GNPTAB): c.1325G> A (p.Cys442Tyr) single nucleotide variant Pathogenic rs281864975 GRCh37 Chromosome 12, 102161898: 102161898
22 GNPTAB NM_024312.4(GNPTAB): c.1385_1386insA (p.Asp462Glufs) insertion Pathogenic rs281864978 GRCh37 Chromosome 12, 102161838: 102161838
23 GNPTAB NM_024312.4(GNPTAB): c.1514G> A (p.Cys505Tyr) single nucleotide variant Pathogenic rs281864980 GRCh37 Chromosome 12, 102159967: 102159967
24 GNPTAB NM_024312.4(GNPTAB): c.168T> A (p.Tyr56Ter) single nucleotide variant Pathogenic rs281864950 GRCh37 Chromosome 12, 102190490: 102190490
25 GNPTAB NM_024312.4(GNPTAB): c.232_234delGTT (p.Val78del) deletion Pathogenic rs281864952 GRCh37 Chromosome 12, 102183805: 102183807
26 GNPTAB NM_024312.4(GNPTAB): c.242G> T (p.Trp81Leu) single nucleotide variant Pathogenic rs281864953 GRCh37 Chromosome 12, 102183797: 102183797
27 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Pathogenic/Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
28 GNPTAB NM_024312.4(GNPTAB): c.2693delA (p.Lys898Serfs) deletion Pathogenic rs281865000 GRCh37 Chromosome 12, 102158002: 102158002
29 GNPTAB NM_024312.4(GNPTAB): c.2715+2T> G single nucleotide variant Pathogenic rs281865001 GRCh37 Chromosome 12, 102157978: 102157978
30 GNPTAB NM_024312.4(GNPTAB): c.2777A> C (p.Gln926Pro) single nucleotide variant Pathogenic rs281865002 GRCh37 Chromosome 12, 102155480: 102155480
31 GNPTAB NM_024312.4(GNPTAB): c.2866C> T (p.His956Tyr) single nucleotide variant Pathogenic rs281865004 GRCh37 Chromosome 12, 102155391: 102155391
32 GNPTAB NM_024312.4(GNPTAB): c.2867A> G (p.His956Arg) single nucleotide variant Pathogenic rs281865005 GRCh37 Chromosome 12, 102155390: 102155390
33 GNPTAB NM_024312.4(GNPTAB): c.3443_3446delTTTG (p.Val1148Alafs) deletion Pathogenic rs281865018 GRCh37 Chromosome 12, 102147306: 102147309
34 GNPTAB NM_024312.4(GNPTAB): c.3458A> G (p.Asn1153Ser) single nucleotide variant Pathogenic rs281865019 GRCh37 Chromosome 12, 102147294: 102147294
35 GNPTAB NM_024312.4(GNPTAB): c.3741_3744delAGAA (p.Glu1248Leufs) deletion Pathogenic rs281865022 GRCh37 Chromosome 12, 102140969: 102140972
36 GNPTG NM_032520.4(GNPTG): c.445delG (p.Ala149Profs) deletion Pathogenic rs281864956 GRCh37 Chromosome 16, 1412240: 1412240
37 GNPTAB NM_024312.4(GNPTAB): c.44C> A (p.Ser15Tyr) single nucleotide variant Pathogenic rs281864947 GRCh37 Chromosome 12, 102224410: 102224410
38 GNPTAB NM_024312.4(GNPTAB): c.517_518insA (p.Pro173Hisfs) insertion Pathogenic rs281864957 GRCh37 Chromosome 12, 102179843: 102179844
39 GNPTAB NM_024312.4(GNPTAB): c.571+3A> C single nucleotide variant Pathogenic rs281864960 GRCh37 Chromosome 12, 102179787: 102179787
40 GNPTAB NM_024312.4(GNPTAB): c.1774G> A (p.Ala592Thr) single nucleotide variant Pathogenic rs149390820 GRCh37 Chromosome 12, 102158921: 102158921
41 GNPTAB NM_024312.4(GNPTAB): c.2354T> G (p.Leu785Trp) single nucleotide variant Pathogenic rs144060383 GRCh37 Chromosome 12, 102158341: 102158341
42 GNPTAB NM_024312.4(GNPTAB): c.771G> A (p.Leu257=) single nucleotide variant Pathogenic rs281865025 GRCh37 Chromosome 12, 102173930: 102173930
43 GNPTAB NM_024312.4(GNPTAB): c.1220A> C (p.Asp407Ala) single nucleotide variant Pathogenic rs137852895 GRCh37 Chromosome 12, 102163863: 102163863
44 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
45 GNPTAB NM_024312.4(GNPTAB): c.2715+1G> A single nucleotide variant Pathogenic rs281865031 GRCh37 Chromosome 12, 102157979: 102157979
46 GNPTAB NM_024312.4(GNPTAB): c.2574_2575delGA (p.Asn859Glnfs) deletion Pathogenic rs281865029 GRCh37 Chromosome 12, 102158120: 102158121
47 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
48 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
49 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
50 GNPTG NM_032520.4(GNPTG): c.611delG (p.Gly204Alafs) deletion Pathogenic rs193302856 GRCh37 Chromosome 16, 1412613: 1412613

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 10.71 GNPTAB GNPTG

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 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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