Aliases & Classifications for Mucolipidoses

MalaCards integrated aliases for Mucolipidoses:

Name: Mucolipidoses 37 50 69

Summaries for Mucolipidoses

NINDS : 50 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 glycoproteinosis and macular dystrophy, corneal. An important gene associated with Mucolipidoses is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Lysosome. The drugs alemtuzumab and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotype is skeleton.

Related Diseases for Mucolipidoses

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 glycoproteinosis 11.1
2 macular dystrophy, corneal 11.0
3 mucopolysaccharidoses 10.4
4 blood group, i system 10.1
5 carpal tunnel syndrome 9.8
6 mucolipidosis ii alpha/beta 9.8
7 mononeuropathy of the median nerve, mild 9.8
8 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
9 hydrops fetalis 9.8
10 myoclonus 9.8
11 mucopolysaccharidosis-plus syndrome 9.4 HEXA HYAL1

Graphical network of the top 20 diseases related to Mucolipidoses:



Diseases related to Mucolipidoses

Symptoms & Phenotypes for Mucolipidoses

MGI Mouse Phenotypes related to Mucolipidoses:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 GNPTAB HEXA HYAL1

Drugs & Therapeutics for Mucolipidoses

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
3
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
11 tannic acid Approved, Nutraceutical Phase 2
12 Alkylating Agents Phase 2
13 Antifungal Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antirheumatic Agents Phase 2
18 Calcineurin Inhibitors Phase 2
19 Cyclosporins Phase 2
20 Dermatologic Agents Phase 2
21 Immunosuppressive Agents Phase 2
22 Nucleic Acid Synthesis Inhibitors Phase 2
23 Antilymphocyte Serum Phase 2
24 Methylprednisolone acetate Phase 2
25 Methylprednisolone Hemisuccinate Phase 2
26 Prednisolone acetate Phase 2
27 Prednisolone hemisuccinate Phase 2
28 Prednisolone phosphate Phase 2
29
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
30
Mycophenolic acid Approved 24280-93-1 446541
31 Anti-Bacterial Agents
32 Antibiotics, Antitubercular
33 Antitubercular Agents
34 Gastrins
35 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
2 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
3 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
4 The Natural History and Pathogenesis of Mucolipidosis Type IV Completed NCT00015782
5 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
6 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
7 Biomarker for Mucolipidosis Disorder Type I, II, III or IV Recruiting NCT02298673
8 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
9 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
10 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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
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:

38
Liver

Publications for Mucolipidoses

Articles related to Mucolipidoses:

(show all 34)
# Title Authors Year
1
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. ( 28065440 )
2016
2
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses. ( 26406883 )
2015
3
Mucopolysaccharidoses and mucolipidoses. ( 23622395 )
2013
4
Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. ( 19932038 )
2010
5
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. ( 19617216 )
2010
6
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. ( 16151906 )
2005
7
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. ( 15877208 )
2005
8
Pathologic quiz case: a 5-day-old boy with hydrops fetalis. Mucolipidoses I (Sialidosis III). ( 12873188 )
2003
9
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. ( 9250742 )
1997
10
Plasma hyaluronidase activity in mucolipidoses II and III: marked differences from other lysosomal enzymes. ( 9240745 )
1996
11
Mucolipidoses--II: A report of three cases. ( 10829931 )
1995
12
The mucolipidoses. ( 8316526 )
1993
13
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. ( 1309624 )
1992
14
Biochemical and ultrastructural diagnostic problems in mucolipidoses. ( 1790025 )
1991
15
The oligosaccharidoses: proposal of a new name and a new classification for the mucolipidoses. ( 7139113 )
1982
16
Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III. ( 7305949 )
1981
17
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses. ( 6459053 )
1981
18
The mucopolysaccharidoses and mucolipidoses as model systems for the investigation of genetic disorders. ( 6461367 )
1981
19
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. ( 7282783 )
1981
20
Deficiency of neuraminidase in the sialidoses and the mucolipidoses. ( 7372342 )
1980
21
Sialidoses (mucolipidoses), clinical pictures. ( 6102429 )
1980
22
Neuraminidase in mucolipidoses: normal activity in frozen autopsy tissues from three patients with I-cell disease and adult beta-galactosidase deficiency. ( 116781 )
1979
23
Neuraminidase activity in the mucolipidoses (types I, II and III) and the cherry-red spot myoclonus syndrome. ( 574433 )
1979
24
The mucolipidoses: multiple hydrolase deficiency diseases. ( 20078289 )
1977
25
beta-Galactosidase in mucopolysaccharidoses and mucolipidoses. Deficiency of GM1 beta-galactosidase in liver and leukocytes. ( 403036 )
1977
26
The genetic mucopolysaccharidoses and mucolipidoses: review and comment. ( 131478 )
1976
27
The mucopolysaccharidoses and mucolipidoses. ( 131015 )
1976
28
Biochemical studies in mucolipidoses II and III. ( 127631 )
1975
29
The genetic mucolipidoses--definition and classification. ( 811278 )
1975
30
Mucopolysaccharidoses and mucolipidoses. ( 4220223 )
1974
31
The biochemical basis for mucopolysaccharidoses and mucolipidoses. ( 4283415 )
1974
32
Hyperglycopeptiduria in genetic mucolipidoses. ( 4277514 )
1974
33
The genetic mucolipidoses. Diagnosis and differential diagnosis. ( 4246487 )
1970
34
The genetic mucolipidoses. ( 4256381 )
1970

Variations for Mucolipidoses

Expression for Mucolipidoses

Search GEO for disease gene expression data for Mucolipidoses.

GO Terms for Mucolipidoses

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 HEXA HYAL1
2 lysosomal lumen GO:0043202 8.62 HEXA HYAL1

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.26 HEXA HYAL1
2 carbohydrate metabolic process GO:0005975 9.16 HEXA HYAL1
3 hyaluronan catabolic process GO:0030214 8.96 HEXA HYAL1
4 chondroitin sulfate catabolic process GO:0030207 8.62 HEXA 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 8.62 HEXA HYAL1

Sources for Mucolipidoses

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
Content
Loading form....