MCID: MCL001
MIFTS: 45

Mucolipidosis

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mucolipidosis

MalaCards integrated aliases for Mucolipidosis:

Name: Mucolipidosis 12 56 15 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0080488

Summaries for Mucolipidosis

Disease Ontology : 12 A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.

MalaCards based summary : Mucolipidosis is related to mucolipidosis iii alpha/beta and mucolipidosis iv. An important gene associated with Mucolipidosis is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Benzocaine and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 Mucolipidosis is a group of inherited metabolic disorders that affect the body''s ability to carry out... more...

Related Diseases for Mucolipidosis

Diseases in the Mucolipidosis family:

Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta
Mucolipidosis Iii Gamma Mucolipidosis Iv

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii alpha/beta 34.4 CTSD GNPTAB GNPTG
2 mucolipidosis iv 34.1 HEXA MCOLN1
3 mucolipidosis ii alpha/beta 33.4 ARSH GNPTAB GNPTG IGF2R SMPD1
4 mucolipidoses 32.3 GNPTAB HEXA
5 inclusion-cell disease 32.2 ARSA CTSD GNPTAB GNPTG IGF2R
6 mucopolysaccharidosis, type vi 31.8 ARSA ARSH
7 stuttering 30.0 GNPTAB GNPTG NAGPA
8 autosomal recessive disease 30.0 ARSA GNPTAB GNPTG
9 mucopolysaccharidosis-plus syndrome 29.9 ARSH HEXA
10 multiple sulfatase deficiency 29.6 ARSA ARSH CTSD NPC1
11 inherited metabolic disorder 29.6 ARSA HEXA NPC1
12 lysosomal storage disease 29.2 ARSA HEXA MAN2B1 MCOLN1 SMPD1
13 mucolipidosis iii gamma 12.7
14 glycoproteinosis 12.1
15 neuraminidase deficiency 11.7
16 pacman dysplasia 11.4
17 hurler syndrome 11.1
18 hyperparathyroidism 10.2
19 mucopolysaccharidosis, type iiia 10.2 ARSH GNPTAB
20 mucopolysaccharidosis, type ii 10.2 ARSA ARSH
21 articulation disorder 10.1 GNPTAB GNPTG NAGPA
22 speech disorder 10.1 GNPTAB GNPTG NAGPA
23 carpal tunnel syndrome 10.1
24 mononeuropathy of the median nerve, mild 10.1
25 mannosidosis 10.1
26 rickets 10.1
27 cerebral palsy, ataxic, autosomal recessive 10.1 IGF2R MCOLN1
28 niemann-pick disease 10.1 NPC1 SMPD1
29 acid sphingomyelinase deficiency 10.1 NPC1 SMPD1
30 craniosynostosis 10.0
31 dilated cardiomyopathy 10.0
32 retinal degeneration 10.0
33 myoclonus 10.0
34 mannosidosis, alpha b, lysosomal 10.0 HEXA MAN2B1
35 niemann-pick disease, type a 10.0 NPC1 SMPD1
36 niemann-pick disease, type c2 10.0 NPC1 SMPD1
37 sandhoff disease 9.9 HEXA NPC1
38 tay-sachs disease 9.9 ARSA HEXA
39 mannosidosis, beta a, lysosomal 9.9 HEXA MAN2B1
40 atrial standstill 1 9.9
41 fructose intolerance, hereditary 9.9
42 smith-lemli-opitz syndrome 9.9
43 opitz gbbb syndrome, type i 9.9
44 bardet-biedl syndrome 2 9.9
45 bardet-biedl syndrome 10 9.9
46 bardet-biedl syndrome 11 9.9
47 bardet-biedl syndrome 12 9.9
48 pulmonary hypertension 9.9
49 hydrocephalus 9.9
50 thrombocytopenia 9.9

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to Mucolipidosis

Symptoms & Phenotypes for Mucolipidosis

GenomeRNAi Phenotypes related to Mucolipidosis according to GeneCards Suite gene sharing:

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.72 IGF2R
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 ARSA CTSD IGF2R MAN2B1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 CTSD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 ARSA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.72 CTSD IGF2R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 ARSA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 ARSA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.72 ARSA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 MAN2B1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.72 ARSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 ARSA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.72 IGF2R
13 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.72 MAN2B1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 IGF2R
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.72 IGF2R
16 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.72 CTSD
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 CTSD IGF2R
18 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 ARSA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 CTSD
20 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 CTSD

MGI Mouse Phenotypes related to Mucolipidosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ARSA CTSD GNPTAB HEXA IGF2R LAPTM4B
2 growth/size/body region MP:0005378 10.06 CTSD GNPTAB HEXA IGF2R LAPTM4B MAN2B1
3 homeostasis/metabolism MP:0005376 10.06 ARSA CTSD GNPTAB GNPTG HEXA IGF2R
4 hematopoietic system MP:0005397 9.97 ARSA CTSD GNPTAB IGF2R MAN2B1 MCOLN1
5 nervous system MP:0003631 9.85 ARSA CTSD GNPTAB HEXA IGF2R LAPTM4B
6 liver/biliary system MP:0005370 9.65 HEXA IGF2R MAN2B1 NPC1 SMPD1
7 renal/urinary system MP:0005367 9.35 GNPTAB HEXA IGF2R MAN2B1 MCOLN1
8 vision/eye MP:0005391 9.1 CTSD GNPTAB HEXA MAN2B1 MCOLN1 NPC1

Drugs & Therapeutics for Mucolipidosis

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
2
Hydroxyurea Approved Phase 2 127-07-1 3657
3
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
4
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
5
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
6
tannic acid Approved Phase 2,Not Applicable 1401-55-4
7
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
13
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
14
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
15 Immunosuppressive Agents Phase 2,Not Applicable
16 Antifungal Agents Phase 2,Not Applicable
17 Immunologic Factors Phase 2,Not Applicable
18 Antirheumatic Agents Phase 2,Not Applicable
19 Alkylating Agents Phase 2,Not Applicable
20 Dermatologic Agents Phase 2,Not Applicable
21 Antimetabolites Phase 2,Not Applicable
22 Antineoplastic Agents, Immunological Phase 2,Not Applicable
23 Antimetabolites, Antineoplastic Phase 2,Not Applicable
24 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
25 Nucleic Acid Synthesis Inhibitors Phase 2
26 Calcineurin Inhibitors Phase 2,Not Applicable
27 Cyclosporins Phase 2,Not Applicable
28 Anti-Infective Agents Phase 2,Not Applicable
29 Methylprednisolone Acetate Phase 2
30 Prednisolone acetate Phase 2
31 Antilymphocyte Serum Phase 2
32 Thymoglobulin Phase 2
33
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
34 Antitubercular Agents Not Applicable
35 Antibiotics, Antitubercular Not Applicable
36 Anti-Bacterial Agents Not Applicable
37 Gastrins
38 polysaccharide-K
39 Protective Agents
40 Antiviral Agents
41 Radiation-Protective Agents
42 Interferon Inducers
43 Adjuvants, Immunologic
44 interferons

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 (BioML) 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 (BioGlycogen) 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 Mucolipidosis

Genetic Tests for Mucolipidosis

Anatomical Context for Mucolipidosis

MalaCards organs/tissues related to Mucolipidosis:

42
Bone, Skin, Kidney, Brain, Liver, Testes, Bone Marrow

Publications for Mucolipidosis

Articles related to Mucolipidosis:

(show top 50) (show all 461)
# Title Authors Year
1
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III. ( 30712120 )
2019
2
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations. ( 30882951 )
2019
3
Sleep-disordered breathing in children with mucolipidosis. ( 31038846 )
2019
4
Current concepts in the neuropathogenesis of mucolipidosis type IV. ( 29770442 )
2019
5
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. ( 29872134 )
2019
6
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease. ( 30209781 )
2019
7
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. ( 30507725 )
2019
8
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy. ( 30610051 )
2018
9
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. ( 29170090 )
2018
10
Peripheral nerve ultrasound findings in mucolipidosis type 3. ( 29218369 )
2018
11
Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature. ( 29620587 )
2018
12
Mucolipidosis type III, a series of adult patients. ( 29704188 )
2018
13
Fingolimod Phosphate Inhibits Astrocyte Inflammatory Activity in Mucolipidosis IV. ( 29771310 )
2018
14
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells. ( 29773673 )
2018
15
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. ( 29900995 )
2018
16
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). ( 30105123 )
2018
17
Mucolipidosis type IV in a child. ( 30120981 )
2018
18
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. ( 30208878 )
2018
19
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. ( 30235039 )
2018
20
B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease). ( 30464332 )
2018
21
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). ( 30591066 )
2018
22
Manifestations of Mucolipidosis III in the hand: avascular necrosis of multiple carpal bones. ( 27609217 )
2017
23
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. ( 27785713 )
2017
24
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum. ( 27797444 )
2017
25
Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report. ( 28044261 )
2017
26
Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II. ( 28062798 )
2017
27
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis. ( 28095893 )
2017
28
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents? ( 28392473 )
2017
29
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. ( 28396763 )
2017
30
Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV. ( 28449103 )
2017
31
From mucolipidosis type IV to Ebola: TRPML and two-pore channels at the crossroads of endo-lysosomal trafficking and disease. ( 28457591 )
2017
32
Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India. ( 28553404 )
2017
33
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. ( 28610891 )
2017
34
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation. ( 28620732 )
2017
35
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. ( 28918368 )
2017
36
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )
2016
37
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. ( 26130485 )
2016
38
ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV. ( 26596346 )
2016
39
Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV. ( 26608452 )
2016
40
Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence? ( 26749367 )
2016
41
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. ( 26789537 )
2016
42
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II. ( 26857995 )
2016
43
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings. ( 26926398 )
2016
44
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. ( 26935170 )
2016
45
Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase. ( 27038293 )
2016
46
A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β. ( 27180337 )
2016
47
The first genetically confirmed Japanese patient with mucolipidosis type IV. ( 27190617 )
2016
48
Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. ( 27241848 )
2016
49
Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation. ( 27270598 )
2016
50
Early characteristic radiographic changes in mucolipidosis II. ( 27525427 )
2016

Variations for Mucolipidosis

Expression for Mucolipidosis

Search GEO for disease gene expression data for Mucolipidosis.

Pathways for Mucolipidosis

Pathways related to Mucolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 ARSA ARSH HEXA SMPD1
2 11.49 ARSA CTSD GNPTAB GNPTG HEXA IGF2R
3 10.9 CTSD SMPD1
4 10.41 HEXA MAN2B1

GO Terms for Mucolipidosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 ARSA CTSD GNPTG HEXA IGF2R MAN2B1
2 Golgi apparatus GO:0005794 9.8 GNPTAB GNPTG IGF2R NAGPA NPC1
3 endosome GO:0005768 9.63 ARSA IGF2R LAPTM4B MCOLN1 NPC1 SMPD1
4 lysosomal membrane GO:0005765 9.62 IGF2R LAPTM4B MCOLN1 NPC1
5 late endosome membrane GO:0031902 9.54 LAPTM4B MCOLN1 NPC1
6 lysosomal lumen GO:0043202 9.35 ARSA CTSD HEXA MAN2B1 SMPD1
7 lysosome GO:0005764 9.28 ARSA CTSD HEXA IGF2R LAPTM4B MAN2B1
8 integral component of membrane GO:0016021 10.09 ARSA ARSH GNPTAB IGF2R LAPTM4B MCOLN1

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 ARSA CTSD IGF2R MAN2B1
2 carbohydrate metabolic process GO:0005975 9.63 HEXA MAN2B1 NAGPA
3 metabolic process GO:0008152 9.58 HEXA MAN2B1 SMPD1
4 lysosome organization GO:0007040 9.43 GNPTAB NAGPA
5 carbohydrate phosphorylation GO:0046835 9.32 GNPTAB GNPTG
6 lysosomal transport GO:0007041 9.26 IGF2R NPC1
7 secretion of lysosomal enzymes GO:0033299 9.16 GNPTAB NAGPA
8 glycosphingolipid metabolic process GO:0006687 9.13 ARSA HEXA SMPD1
9 N-glycan processing to lysosome GO:0016256 8.32 GNPTAB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.5 ARSA ARSH CTSD HEXA MAN2B1 NAGPA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.33 HEXA MAN2B1 SMPD1
3 sulfuric ester hydrolase activity GO:0008484 9.32 ARSA ARSH
4 arylsulfatase activity GO:0004065 9.26 ARSA ARSH
5 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTAB GNPTG

Sources for Mucolipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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