MCID: MCL016
MIFTS: 34

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 57 24 25 29 13 6 73
Pseudo-Hurler Polydystrophy 25 59 73
Mucolipidosis Type Iii 25 59
Mucolipidosis Iiic 57 25
Ml Iii Gamma 57 59
Ml Iiic 57 25
Mucolipidosis Type Iii Complementation Group C 75
Mucolipidosis Iii, Complementation Group C 57
Mucolipidosis Iii, Iranian Variant Form 57
Variant Pseudo Hurler Polydystrophy 24
Variant Pseudo-Hurler Polydystrophy 75
Mucolipidosis Iii, Variant Form 57
Mucolipidosis, Type Iii, Gamma 40
Mucolipidosis, Type Iii Gamma 6
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 75

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:



Summaries for Mucolipidosis Iii Gamma

UniProtKB/Swiss-Prot : 75 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 stiff shoulders, thick skin and arthralgia. An important gene associated with Mucolipidosis Iii Gamma is GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma). Affiliated tissues include bone, heart and skin, and related phenotypes are inguinal hernia and cleft palate

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)

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.

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:

# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii alpha/beta 10.0
2 tuberous sclerosis 9.9
3 kidney disease 9.9
4 polycystic kidney disease 9.9

Symptoms & Phenotypes for Mucolipidosis Iii Gamma

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

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

Human phenotypes related to Mucolipidosis Iii Gamma:

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

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:

# 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, 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:

75
# 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 103)
# 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 rs193302852 GRCh37 Chromosome 16, 1412534: 1412535
24 GNPTG NM_032520.4(GNPTG): c.608_609insC (p.Gln203Hisfs) insertion Pathogenic rs193302852 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 Pathogenic rs193302860 GRCh37 Chromosome 16, 1413031: 1413031
36 GNPTG NM_032520.4(GNPTG): c.857C> T (p.Thr286Met) single nucleotide variant Pathogenic 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.6G> T (p.Ala2=) single nucleotide variant Uncertain significance rs886051658 GRCh38 Chromosome 16, 1351971: 1351971
41 GNPTG NM_032520.4(GNPTG): c.6G> T (p.Ala2=) single nucleotide variant Uncertain significance rs886051658 GRCh37 Chromosome 16, 1401972: 1401972
42 GNPTG NM_032520.4(GNPTG): c.835T> G (p.Leu279Val) single nucleotide variant Uncertain significance rs886051684 GRCh38 Chromosome 16, 1363008: 1363008
43 GNPTG NM_032520.4(GNPTG): c.835T> G (p.Leu279Val) single nucleotide variant Uncertain significance rs886051684 GRCh37 Chromosome 16, 1413009: 1413009
44 GNPTG NM_032520.4(GNPTG): c.*27C> T single nucleotide variant Uncertain significance rs189677035 GRCh38 Chromosome 16, 1363118: 1363118
45 GNPTG NM_032520.4(GNPTG): c.*27C> T single nucleotide variant Uncertain significance rs189677035 GRCh37 Chromosome 16, 1413119: 1413119
46 GNPTG NM_032520.4(GNPTG): c.*112_*116delACAAA deletion Uncertain significance rs886051685 GRCh38 Chromosome 16, 1363203: 1363207
47 GNPTG NM_032520.4(GNPTG): c.*112_*116delACAAA deletion Uncertain significance rs886051685 GRCh37 Chromosome 16, 1413204: 1413208
48 GNPTG NM_032520.4(GNPTG): c.*224T> C single nucleotide variant Likely benign rs7192408 GRCh38 Chromosome 16, 1363315: 1363315
49 GNPTG NM_032520.4(GNPTG): c.*224T> C single nucleotide variant Likely benign rs7192408 GRCh37 Chromosome 16, 1413316: 1413316
50 GNPTG NM_032520.4(GNPTG): c.*257dupA duplication Uncertain significance rs886051687 GRCh38 Chromosome 16, 1363348: 1363348

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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