Aliases & Classifications for Mucolipidoses

MalaCards integrated aliases for Mucolipidoses:

Name: Mucolipidoses 53 6 37 70

Classifications:



External Ids:

UMLS 70 C0026697

Summaries for Mucolipidoses

NINDS : 53 The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities. The group includes four diseases: Mucolipidosis I (sialidosis) Mucolipidosis II (inclusion-cell, or I-cell, disease) Mucolipidosis III (pseudo-Hurler polydystrophy) Mucolipidosis IV The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs. The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.

MalaCards based summary : Mucolipidoses is related to mucolipidosis ii alpha/beta and hurler syndrome. An important gene associated with Mucolipidoses is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Lysosome and Glycosaminoglycan degradation. The drugs Hydroxyurea and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone.

Wikipedia : 73 Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out... more...

Related Diseases for Mucolipidoses

Diseases related to Mucolipidoses via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis ii alpha/beta 30.0 GNPTG GNPTAB CHPT1
2 hurler syndrome 29.9 GNPTG GNPTAB
3 mucolipidosis iii gamma 29.5 GNPTG GNPTAB CHPT1
4 lysosomal storage disease 29.3 MCOLN1 HYAL1 HEXA
5 mucolipidosis 29.1 MCOLN1 HEXA GNPTG GNPTAB CHPT1
6 mucolipidosis iii alpha/beta 28.9 MCOLN1 GNPTG GNPTAB CHPT1
7 mucopolysaccharidosis-plus syndrome 28.7 MCOLN1 HYAL1 HEXA GNPTG GNPTAB
8 glycoproteinosis 11.2
9 macular dystrophy, corneal 10.9
10 mucopolysaccharidoses 10.5
11 neuraminidase deficiency 10.1
12 gm2-gangliosidosis, ab variant 10.0 HEXA GNPTAB
13 tarsal tunnel syndrome 10.0 GNPTG GNPTAB
14 tibial neuropathy 10.0 GNPTG GNPTAB
15 articulation disorder 10.0 GNPTG GNPTAB
16 dysostosis 10.0
17 myoclonus 10.0
18 lysosomal storage disease with skeletal involvement 10.0
19 gingival hypertrophy 10.0 GNPTG GNPTAB
20 stuttering 9.9 GNPTG GNPTAB
21 carpal tunnel syndrome 9.8
22 developmental dysplasia of the hip 1 9.8
23 hydrops fetalis, nonimmune 9.8
24 3-methylglutaconic aciduria, type iii 9.8
25 mucopolysaccharidosis, type ii 9.8
26 cerebral palsy, ataxic, autosomal recessive 9.8
27 scheie syndrome 9.8
28 lymphatic malformation 7 9.8
29 cerebral palsy 9.8
30 gm1 gangliosidosis 9.8
31 inherited metabolic disorder 9.8
32 gnptab-related disorders 9.8
33 dwarfism 9.8
34 gangliosidosis 9.8
35 avascular necrosis 9.8
36 speech disorder 9.8 GNPTG GNPTAB
37 mucopolysaccharidosis, type iiia 9.8 MCOLN1 GNPTAB
38 mucolipidosis iv 9.8 MCOLN1 HEXA
39 spondylometaphyseal dysplasia, kozlowski type 9.8 MCOLN1 GNPTG
40 sphingolipidosis 9.7 MCOLN1 HEXA
41 tay-sachs disease 9.7 MCOLN1 HEXA
42 mucopolysaccharidosis iii 9.7 MCOLN1 GNPTAB
43 dyslexia 9.7 GNPTG GNPTAB

Graphical network of the top 20 diseases related to Mucolipidoses:



Diseases related to Mucolipidoses

Symptoms & Phenotypes for Mucolipidoses

Drugs & Therapeutics for Mucolipidoses

Drugs for Mucolipidoses (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Melphalan Approved Phase 2 148-82-3 4053 460612
3
tannic acid Approved Phase 2 1401-55-4
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
6
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
12
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
13
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
16
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
17 Alkylating Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Anti-Infective Agents Phase 2
20 Cyclosporins Phase 2
21 Antirheumatic Agents Phase 2
22 Immunologic Factors Phase 2
23 Antineoplastic Agents, Immunological Phase 2
24 Dermatologic Agents Phase 2
25 Antimetabolites Phase 2
26 Calcineurin Inhibitors Phase 2
27 Antifungal Agents Phase 2
28 Methylprednisolone Acetate Phase 2
29 Thymoglobulin Phase 2
30 Antilymphocyte Serum Phase 2
31 polysaccharide-K
32 Gastrins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
2 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
3 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
4 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
5 The Natural History of Mucolipidosis Type IV Unknown status NCT01067742
6 The Natural History and Pathogenesis of Mucolipidosis Type IV Completed NCT00015782
7 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298673

Search NIH Clinical Center for Mucolipidoses

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucolipidoses cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucolipidoses:
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Embryonic/Adult Cultured Cells Related to Mucolipidoses:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD) PMIDs: 9828244

Genetic Tests for Mucolipidoses

Anatomical Context for Mucolipidoses

MalaCards organs/tissues related to Mucolipidoses:

40
Bone

Publications for Mucolipidoses

Articles related to Mucolipidoses:

(show top 50) (show all 141)
# Title Authors PMID Year
1
Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. 6 61
21549105 2011
2
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. 6 61
19617216 2010
3
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. 6
32651481 2020
4
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. 6
30882951 2019
5
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. 6
29872134 2019
6
Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families. 6
31934135 2019
7
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). 6
30105123 2018
8
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. 6
28396763 2017
9
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations. 6
27662472 2016
10
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 6
24798265 2015
11
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. 6
24127423 2013
12
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. 6
23773965 2013
13
High-throughput carrier screening using TaqMan allelic discrimination. 6
23555759 2013
14
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. 6
23227064 2012
15
Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. 6
22570975 2012
16
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. 6
21416587 2011
17
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. 6
19634183 2009
18
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 6
19815695 2009
19
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 6
19197337 2009
20
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. 6
16630736 2006
21
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. 6
16645217 2006
22
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. 6
16465621 2006
23
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. 6
16116615 2005
24
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. 6
16200072 2005
25
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 6
11845410 2002
26
Identification of the gene causing mucolipidosis type IV. 6
10973263 2000
27
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. 61
33130340 2021
28
Mucolipidoses Overview: Past, Present, and Future. 61
32957425 2020
29
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study. 61
31834659 2020
30
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study. 61
31687257 2019
31
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. 61
30650529 2019
32
Lysosomal storage disease overview. 61
30740407 2018
33
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 61
29900995 2018
34
Peripheral nerve ultrasound findings in mucolipidosis type 3. 61
29218369 2018
35
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. 61
28918368 2017
36
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. 61
28065440 2017
37
Early characteristic radiographic changes in mucolipidosis II. 61
27525427 2016
38
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II. 61
26857995 2016
39
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses. 61
26406883 2015
40
Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry. 61
24502792 2014
41
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. 61
24234586 2014
42
Carpal tunnel syndrome in children. 61
24125813 2014
43
Diagnosing mucopolysaccharidosis IVA. 61
23371450 2013
44
Bilateral carpal tunnel syndrome in two children: common manifestation of an uncommon disease. 61
25277159 2013
45
Mucopolysaccharidoses and mucolipidoses. 61
23622395 2013
46
Neuroimaging of lipid storage disorders. 61
23798015 2013
47
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. 61
20490927 2010
48
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder. 61
20159435 2010
49
Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. 61
19932038 2010
50
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. 61
20147709 2010

Variations for Mucolipidoses

ClinVar genetic disease variations for Mucolipidoses:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNPTAB NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) SNV Pathogenic 39065 rs281865009 GRCh37: 12:102154949-102154949
GRCh38: 12:101761171-101761171
2 GNPTAB NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) SNV Pathogenic 39021 rs200646278 GRCh37: 12:102164207-102164207
GRCh38: 12:101770429-101770429
3 GNPTAB NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) Duplication Pathogenic 39057 rs281864999 GRCh37: 12:102158001-102158002
GRCh38: 12:101764223-101764224
4 GNPTAB , CHPT1 NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) SNV Pathogenic 38429 rs35333334 GRCh37: 12:102142959-102142959
GRCh38: 12:101749181-101749181
5 GNPTAB NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) Deletion Pathogenic 39034 rs397507448 GRCh37: 12:102161824-102161824
GRCh38: 12:101768046-101768046
6 GNPTAB NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) Microsatellite Pathogenic 39073 rs281864954 GRCh37: 12:102182346-102182347
GRCh38: 12:101788568-101788569
7 GNPTAB , CHPT1 NM_024312.5(GNPTAB):c.3603-1G>A SNV Pathogenic 504892 rs35576380 GRCh37: 12:102142970-102142970
GRCh38: 12:101749192-101749192
8 GNPTAB NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) SNV Pathogenic 2764 rs137852897 GRCh37: 12:102147187-102147187
GRCh38: 12:101753409-101753409
9 GNPTAB NM_024312.5(GNPTAB):c.2715+1G>A SNV Pathogenic 2768 rs281865031 GRCh37: 12:102157979-102157979
GRCh38: 12:101764201-101764201
10 GNPTAB NM_024312.5(GNPTAB):c.3335+1G>A SNV Pathogenic 2772 rs34940801 GRCh37: 12:102151349-102151349
GRCh38: 12:101757571-101757571
11 GNPTAB NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) Microsatellite Pathogenic 38432 rs281865024 GRCh37: 12:102174352-102174355
GRCh38: 12:101780574-101780577
12 MCOLN1 NM_020533.3(MCOLN1):c.406-2A>G SNV Pathogenic 5131 rs104886461 GRCh37: 19:7591645-7591645
GRCh38: 19:7526759-7526759
13 GNPTAB , CHPT1 NM_024312.5(GNPTAB):c.3663del (p.Met1221fs) Deletion Likely pathogenic 997888 GRCh37: 12:102142909-102142909
GRCh38: 12:101749131-101749131
14 GNPTG NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) SNV Likely pathogenic 397575 rs1060499690 GRCh37: 16:1412045-1412045
GRCh38: 16:1362044-1362044
15 GNPTG NM_032520.5(GNPTG):c.178+1G>A SNV Likely pathogenic 666972 rs1596603769 GRCh37: 16:1402308-1402308
GRCh38: 16:1352307-1352307
16 GNPTAB NM_024312.5(GNPTAB):c.750_751insA (p.Leu251fs) Insertion Likely pathogenic 981091 GRCh37: 12:102173950-102173951
GRCh38: 12:101780172-101780173
17 GNPTAB NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) Duplication Likely pathogenic 39087 rs281864964 GRCh37: 12:102173951-102173952
GRCh38: 12:101780173-101780174
18 GNPTAB NM_024312.5(GNPTAB):c.3336-1G>C SNV Likely pathogenic 41257 rs397507562 GRCh37: 12:102151089-102151089
GRCh38: 12:101757311-101757311

Expression for Mucolipidoses

Search GEO for disease gene expression data for Mucolipidoses.

Pathways for Mucolipidoses

Pathways related to Mucolipidoses according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 MCOLN1 HYAL1 HEXA GNPTG GNPTAB
2
Show member pathways
10.26 HYAL1 HEXA

GO Terms for Mucolipidoses

Cellular components related to Mucolipidoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.5 GNPTG GNPTAB CHPT1
2 Golgi apparatus GO:0005794 9.46 MCOLN1 GNPTG GNPTAB CHPT1
3 lysosomal lumen GO:0043202 9.26 HYAL1 HEXA
4 lysosome GO:0005764 9.13 MCOLN1 HYAL1 HEXA
5 intracellular membrane-bounded organelle GO:0043231 8.92 MCOLN1 HEXA GNPTG CHPT1

Biological processes related to Mucolipidoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate phosphorylation GO:0046835 9.26 GNPTG GNPTAB
2 hyaluronan catabolic process GO:0030214 9.16 HYAL1 HEXA
3 chondroitin sulfate catabolic process GO:0030207 8.96 HYAL1 HEXA
4 cellular response to pH GO:0071467 8.62 MCOLN1 HYAL1

Molecular functions related to Mucolipidoses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.96 HYAL1 HEXA
2 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB

Sources for Mucolipidoses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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