MCID: GNP002
MIFTS: 10

Gnptab-Related Disorders

Aliases & Classifications for Gnptab-Related Disorders

MalaCards integrated aliases for Gnptab-Related Disorders:

Name: Gnptab-Related Disorders 24 6

Summaries for Gnptab-Related Disorders

MalaCards based summary : Gnptab-Related Disorders is related to mucolipidosis ii alpha/beta and mucolipidosis iii alpha/beta. An important gene associated with Gnptab-Related Disorders is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta). Affiliated tissues include bone.

GeneReviews: NBK1828

Related Diseases for Gnptab-Related Disorders

Diseases related to Gnptab-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mucolipidosis ii alpha/beta 10.2
2 mucolipidosis iii alpha/beta 10.2
3 mucolipidosis iii gamma 10.2
4 mucolipidosis 10.2

Symptoms & Phenotypes for Gnptab-Related Disorders

Drugs & Therapeutics for Gnptab-Related Disorders

Search Clinical Trials , NIH Clinical Center for Gnptab-Related Disorders

Genetic Tests for Gnptab-Related Disorders

Anatomical Context for Gnptab-Related Disorders

MalaCards organs/tissues related to Gnptab-Related Disorders:

40
Bone

Publications for Gnptab-Related Disorders

Articles related to Gnptab-Related Disorders:

(show all 28)
# Title Authors PMID Year
1
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. 24
30882951 2019
2
Oral Bisphosphonate Induced Recurrent Osteonecrosis of Jaw with Atypical Femoral Fracture and Subsequent Mandible Fracture in the Same Patient: A Case Report. 24
30584526 2018
3
Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs. 24
27469132 2017
4
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. 24
24045841 2014
5
Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ. 24
24550498 2014
6
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. 24
24127423 2013
7
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. 24
23430906 2012
8
Mucolipidosis II complicated by severe pulmonary hypertension. 24
21802970 2011
9
Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction. 24
21051253 2011
10
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. 24
20490927 2010
11
The natural history and osteodystrophy of mucolipidosis types II and III. 24
20367762 2010
12
Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. 24
20130326 2010
13
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 24
19617216 2010
14
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. 24
19634183 2009
15
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 24
19197337 2009
16
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. 24
18190596 2008
17
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 24
16630736 2006
18
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. 24
16465621 2006
19
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. 24
16116615 2005
20
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. 24
16094673 2005
21
Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. 24
15887289 2005
22
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. 24
15633164 2005
23
Prevalence of lysosomal storage diseases in Portugal. 24
14685153 2004
24
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. 24
12705498 2002
25
The frequency of lysosomal storage diseases in The Netherlands. 24
10480370 1999
26
I-cell disease: clinical studies of 21 Japanese cases. 24
2998652 1985
27
[Hurler's pseudo-polydystrophy]. 24
4958870 1966
28
GNPTAB-Related Disorders 61
20301728 2008

Variations for Gnptab-Related Disorders

ClinVar genetic disease variations for Gnptab-Related Disorders:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs)short repeat Pathogenic 2771 rs34002892 12:102147248-102147249 12:101753470-101753471
2 GNPTAB NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)SNV Pathogenic 39022 rs397507447 12:102163960-102163960 12:101770182-101770182
3 GNPTAB NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter)SNV Uncertain significance 631534 rs1566078120 12:102164932-102164932 12:101771154-101771154

Expression for Gnptab-Related Disorders

Search GEO for disease gene expression data for Gnptab-Related Disorders.

Pathways for Gnptab-Related Disorders

GO Terms for Gnptab-Related Disorders

Sources for Gnptab-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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48 NCI
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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