MCID: MCL022
MIFTS: 26

Mucolipidoses

Categories: Metabolic diseases

Aliases & Classifications for Mucolipidoses

MalaCards integrated aliases for Mucolipidoses:

Name: Mucolipidoses 38 54 73

Classifications:



External Ids:

UMLS 73 C0026697

Summaries for Mucolipidoses

NINDS : 54 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 HYAL1 (Hyaluronidase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Miconazole and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotype is skeleton.

Wikipedia : 76 Mucolipidosis (ML) is a group of inherited metabolic disorders that affect the body''s ability to carry... more...

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 11.3
2 macular dystrophy, corneal 11.1
3 mucopolysaccharidoses 10.6
4 carpal tunnel syndrome 10.0
5 mucolipidosis ii alpha/beta 10.0
6 mononeuropathy of the median nerve, mild 10.0
7 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
8 fetal edema 10.0
9 hydrops fetalis 10.0
10 myoclonus 10.0
11 mucopolysaccharidosis-plus syndrome 9.6 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:

46
# 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 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
2
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
3
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
4
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
5
Hydroxyurea Approved Phase 2 127-07-1 3657
6
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
7 tannic acid Approved Phase 2,Not Applicable
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
10
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
11
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
12
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
13
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
14
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
15 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
16 Antimetabolites Phase 2,Not Applicable
17 Anti-Infective Agents Phase 2,Not Applicable
18 Immunosuppressive Agents Phase 2,Not Applicable
19 Antimetabolites, Antineoplastic Phase 2,Not Applicable
20 Immunologic Factors Phase 2,Not Applicable
21 Nucleic Acid Synthesis Inhibitors Phase 2
22 Alkylating Agents Phase 2,Not Applicable
23 Cyclosporins Phase 2,Not Applicable
24 Antifungal Agents Phase 2,Not Applicable
25 Dermatologic Agents Phase 2,Not Applicable
26 Antirheumatic Agents Phase 2,Not Applicable
27 Calcineurin Inhibitors Phase 2,Not Applicable
28 Antilymphocyte Serum Phase 2
29 Methylprednisolone acetate Phase 2
30 Thymoglobulin Phase 2
31 Prednisolone acetate Phase 2
32
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
33 Anti-Bacterial Agents Not Applicable
34 Antibiotics, Antitubercular Not Applicable
35 Antitubercular Agents Not Applicable
36 Gastrins
37 Krestin

Interventional clinical trials:

(show all 11)
# 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 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
6 Biomarker for Mucolipidosis Disorder Type I, II, III, IV Recruiting NCT02298673
7 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
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
11 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

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:

41
Liver

Publications for Mucolipidoses

Articles related to Mucolipidoses:

(show all 35)
# 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
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. ( 15877208 )
2005
7
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. ( 16151906 )
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
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. ( 7282783 )
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
Deficient phosphorylation of mannose residues of mannan in fibroblasts of patients with mucolipidoses II and III. ( 7305949 )
1981
20
Sialidoses (mucolipidoses), clinical pictures. ( 6102429 )
1980
21
Deficiency of neuraminidase in the sialidoses and the mucolipidoses. ( 7372342 )
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
Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis. ( 657539 )
1978
25
The mucolipidoses: multiple hydrolase deficiency diseases. ( 20078289 )
1977
26
beta-Galactosidase in mucopolysaccharidoses and mucolipidoses. Deficiency of GM1 beta-galactosidase in liver and leukocytes. ( 403036 )
1977
27
The genetic mucopolysaccharidoses and mucolipidoses: review and comment. ( 131478 )
1976
28
The mucopolysaccharidoses and mucolipidoses. ( 131015 )
1976
29
Biochemical studies in mucolipidoses II and III. ( 127631 )
1975
30
The genetic mucolipidoses--definition and classification. ( 811278 )
1975
31
Hyperglycopeptiduria in genetic mucolipidoses. ( 4277514 )
1974
32
Mucopolysaccharidoses and mucolipidoses. ( 4220223 )
1974
33
The biochemical basis for mucopolysaccharidoses and mucolipidoses. ( 4283415 )
1974
34
The genetic mucolipidoses. ( 4256381 )
1970
35
The genetic mucolipidoses. Diagnosis and differential diagnosis. ( 4246487 )
1970

Variations for Mucolipidoses

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
Show member pathways
12.01 HEXA HYAL1
2
Show member pathways
11.66 HEXA HYAL1
3 10.89 GNPTAB HEXA HYAL1
4
Show member pathways
10.26 HEXA HYAL1

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 carbohydrate metabolic process GO:0005975 9.26 HEXA HYAL1
2 metabolic process GO:0008152 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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