MCID: MCL001
MIFTS: 47

Mucolipidosis

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

Aliases & Classifications for Mucolipidosis

MalaCards integrated aliases for Mucolipidosis:

Name: Mucolipidosis 12 58 29 54 6 15 39

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080488
MESH via Orphanet 44 D009081
UMLS via Orphanet 72 C0026697
Orphanet 58 ORPHA79212

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 ii alpha/beta and mucolipidosis iii alpha/beta. 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 Gamma carboxylation, hypusine formation and arylsulfatase activation. The drugs tannic acid and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 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 181)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis ii alpha/beta 35.0 SMPD1 GNPTG GNPTAB ARSH
2 mucolipidosis iii alpha/beta 34.9 NAGPA MCOLN1 GNPTG GNPTAB CTSD
3 mucolipidosis iv 34.6 NPC1 MTOR MCOLN3 MCOLN2 MCOLN1 HEXA
4 glycoproteinosis 33.9 MCOLN1 ARSH
5 mucolipidoses 33.6 HEXA GNPTAB
6 inclusion-cell disease 33.5 NAGPA GNPTG GNPTAB CTSD ARSH ARSA
7 mucopolysaccharidosis, type vi 32.3 SUMF1 MCOLN1 ARSH ARSA
8 lysosomal storage disease 32.2 SUMF1 SMPD1 NPC1 MCOLN1 MAN2B1 HEXA
9 mucopolysaccharidosis-plus syndrome 31.2 SUMF1 HEXA GNPTAB ARSH ARSA
10 gm1 gangliosidosis 30.7 NPC1 HEXA ARSH ARSA
11 mucopolysaccharidosis, type ii 30.7 SUMF1 ARSH ARSA
12 niemann-pick disease, type c1 30.6 SMPD1 NPC1 HEXA
13 inherited metabolic disorder 30.6 SMPD1 NPC1 ARSA
14 tarsal tunnel syndrome 30.6 GNPTG GNPTAB
15 gaucher disease, type i 30.5 SMPD1 HEXA ARSH ARSA
16 mucopolysaccharidosis iv 30.5 SUMF1 ARSH ARSA
17 stuttering 30.5 NAGPA GNPTG GNPTAB
18 gm1-gangliosidosis, type i 30.4 HEXA ARSA
19 multiple sulfatase deficiency 30.3 SUMF1 NPC1 ARSH ARSA
20 sphingolipidosis 30.3 SMPD1 NPC1 MCOLN1 HEXA CTSD ARSH
21 scheie syndrome 30.3 SUMF1 MAN2B1 ARSH ARSA
22 neuronal ceroid lipofuscinosis 30.3 NPC1 MCOLN1 CTSD ARSH
23 tay-sachs disease 30.1 SMPD1 NPC1 MCOLN1 HEXA ARSH ARSA
24 mucolipidosis iii gamma 12.9
25 neuraminidase deficiency 12.2
26 carpal tunnel syndrome 11.5
27 hurler syndrome 11.5
28 pacman dysplasia 11.5
29 autosomal recessive disease 10.6
30 spastic paraplegia 39 10.6 PNPLA6 MCOLN1
31 acid sphingomyelinase deficiency 10.5 SMPD1 NPC1
32 dysostosis 10.5
33 lysosomal storage disease with skeletal involvement 10.5
34 articulation disorder 10.5 NAGPA GNPTG GNPTAB
35 gnptab-related disorders 10.5
36 tibial neuropathy 10.5 GNPTG GNPTAB
37 speech disorder 10.5 NAGPA GNPTG GNPTAB
38 retinal degeneration 10.5
39 ceroid lipofuscinosis, neuronal, 3 10.5 MCOLN1 CTSD ARSH
40 lysosomal and lipase deficiency 10.5 SMPD1 NPC1 ARSH
41 mucopolysaccharidoses 10.5
42 mucopolysaccharidosis, type iiia 10.5 GNPTAB ARSH
43 hyperparathyroidism 10.4
44 krabbe disease 10.4 SMPD1 ARSH ARSA
45 fucosidosis 10.4 MAN2B1 HEXA ARSH
46 rickets 10.4
47 strabismus 10.3
48 mechanical strabismus 10.3
49 niemann-pick disease, type b 10.3 SMPD1 NPC1
50 sleeping sickness 10.3 HSPA8 DNAJB1 ARSA

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to Mucolipidosis

Symptoms & Phenotypes for Mucolipidosis

MGI Mouse Phenotypes related to Mucolipidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ARSA CTSD GNPTAB HEXA LAPTM4B MAN2B1
2 growth/size/body region MP:0005378 10.1 CTSD GNPTAB HEXA LAPTM4B MAN2B1 MCOLN1
3 hematopoietic system MP:0005397 10 ARSA CTSD GNPTAB LAPTM5 MAN2B1 MCOLN1
4 homeostasis/metabolism MP:0005376 9.97 ARSA CTSD GNPTAB GNPTG HEXA LAPTM4B
5 immune system MP:0005387 9.7 ARSA CTSD GNPTAB LAPTM5 MAN2B1 MCOLN1
6 nervous system MP:0003631 9.44 ARSA CTSD GNPTAB HEXA LAPTM4B MAN2B1

Drugs & Therapeutics for Mucolipidosis

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
Melphalan Approved Phase 2 148-82-3 4053 460612
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
7
Hydroxyurea Approved Phase 2 127-07-1 3657
8 Immunologic Factors Phase 2
9 Alkylating Agents Phase 2
10 Antineoplastic Agents, Immunological Phase 2
11 Anti-Infective Agents Phase 2
12 Antifungal Agents Phase 2
13 Dermatologic Agents Phase 2
14 Cyclosporins Phase 2
15 Immunosuppressive Agents Phase 2
16 Antirheumatic Agents Phase 2
17 Antimetabolites Phase 2
18 Calcineurin Inhibitors Phase 2
19
Mycophenolic acid Approved 24280-93-1 446541
20 polysaccharide-K
21 Antitubercular Agents
22 Antibiotics, Antitubercular
23 Anti-Bacterial Agents
24 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 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
3 The Natural History and Pathogenesis of Mucolipidosis Type IV Completed NCT00015782
4 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
5 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
6 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673
7 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mucolipidosis

Genetic Tests for Mucolipidosis

Genetic tests related to Mucolipidosis:

# Genetic test Affiliating Genes
1 Mucolipidosis 29

Anatomical Context for Mucolipidosis

MalaCards organs/tissues related to Mucolipidosis:

40
Bone, Skin, Kidney, Liver, Testes, Brain, Bone Marrow

Publications for Mucolipidosis

Articles related to Mucolipidosis:

(show top 50) (show all 841)
# Title Authors PMID Year
1
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. 54 61
19634183 2009
2
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 54 61
19197337 2009
3
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns. 61
32014045 2020
4
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. 61
31753749 2020
5
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. 61
31578829 2020
6
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta. 61
31579991 2020
7
A neonate with mucolipidosis II and transient secondary hyperparathyroidism. 61
31758855 2019
8
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review]. 61
31795562 2019
9
Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum. 61
31899079 2019
10
TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway. 61
31822666 2019
11
Unique molecular signature in mucolipidosis type IV microglia. 61
31883529 2019
12
Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases. 61
31603145 2019
13
Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†. 61
31317194 2019
14
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III. 61
30712120 2019
15
Transient Receptor Potential Channels and Metabolism. 61
31446746 2019
16
Sleep-disordered breathing in children with mucolipidosis. 61
31038846 2019
17
B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease). 61
30464332 2019
18
Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature. 61
29620587 2019
19
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. 61
31188938 2019
20
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. 61
30882951 2019
21
[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β]. 61
31055817 2019
22
Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016). 61
31193155 2019
23
Dysregulation of Microglial Function Contributes to Neuronal Impairment in Mcoln1a-Deficient Zebrafish. 61
30897512 2019
24
Current concepts in the neuropathogenesis of mucolipidosis type IV. 61
29770442 2019
25
ZnT3 expression levels are down-regulated in the brain of Mcoln1 knockout mice. 61
30914059 2019
26
Clinical implementation of gene panel testing for lysosomal storage diseases. 61
30548430 2019
27
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. 61
29872134 2019
28
Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families. 61
31934135 2019
29
A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus. 61
30655525 2019
30
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. 61
30507725 2019
31
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease. 61
30209781 2019
32
Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease). 61
31320815 2019
33
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). 61
30591066 2018
34
Mucolipidosis type IV in a child. 61
30120981 2018
35
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy. 61
30610051 2018
36
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD). 61
30317186 2018
37
Mucolipidosis type III, a series of adult patients. 61
29704188 2018
38
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). 61
30105123 2018
39
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 61
30235039 2018
40
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. 61
30208878 2018
41
Recycling of Golgi glycosyltransferases requires direct binding to coatomer. 61
30126980 2018
42
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells. 61
29773673 2018
43
Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV. 61
29771310 2018
44
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. 61
29623569 2018
45
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. 61
29289611 2018
46
TGF-ß Regulates Cathepsin Activation during Normal and Pathogenic Development. 61
29539424 2018
47
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 61
29900995 2018
48
Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. 61
27619328 2018
49
[Mucolipidosis type IV and corneal lesion: A pediatric case report]. 61
29548701 2018
50
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. 61
29170090 2018

Variations for Mucolipidosis

ClinVar genetic disease variations for Mucolipidosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MCOLN1 NM_020533.3(MCOLN1):c.406-2A>GSNV Pathogenic 5131 rs104886461 19:7591645-7591645 19:7526759-7526759
2 GNPTAB NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs)short repeat Pathogenic 38432 rs281865024 12:102174352-102174355 12:101780574-101780577
3 GNPTAB NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)SNV Pathogenic 39021 rs200646278 12:102164207-102164207 12:101770429-101770429
4 GNPTAB NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)SNV Pathogenic 39065 rs281865009 12:102154949-102154949 12:101761171-101761171
5 GNPTAB NM_024312.5(GNPTAB):c.3603-1G>ASNV Pathogenic 504892 rs35576380 12:102142970-102142970 12:101749192-101749192
6 GNPTAB NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)duplication Pathogenic/Likely pathogenic 39087 rs281864964 12:102173951-102173952 12:101780173-101780174
7 GNPTG NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)SNV Likely pathogenic 397575 rs1060499690 16:1412045-1412045 16:1362044-1362044
8 GNPTG NM_032520.5(GNPTG):c.178+1G>ASNV Likely pathogenic 666972 16:1402308-1402308 16:1352307-1352307
9 GNPTAB NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs)short repeat Likely pathogenic 39055 rs281864996 12:102158141-102158145 12:101764363-101764367

Expression for Mucolipidosis

Search GEO for disease gene expression data for Mucolipidosis.

GO Terms for Mucolipidosis

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 SMPD1 PNPLA6 NPC1 NAGPA MTOR MCOLN3
2 extracellular exosome GO:0070062 10.02 SMPD1 NPC1 MAN2B1 HSPA8 HEXA GNPTG
3 endosome GO:0005768 9.87 SMPD1 NPC1 MCOLN3 MCOLN2 MCOLN1 LAPTM4B
4 late endosome membrane GO:0031902 9.65 NPC1 MCOLN3 MCOLN2 MCOLN1 LAPTM4B
5 lysosomal lumen GO:0043202 9.63 SMPD1 MAN2B1 HSPA8 HEXA CTSD ARSA
6 lysosomal membrane GO:0005765 9.61 NPC1 MTOR MCOLN3 MCOLN2 MCOLN1 LAPTM5
7 lysosome GO:0005764 9.44 SMPD1 NPC1 MTOR MCOLN3 MCOLN2 MCOLN1
8 postsynaptic cytosol GO:0099524 9.43 MTOR HSPA8

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.58 MCOLN3 MCOLN2 MCOLN1
2 regulation of cellular response to heat GO:1900034 9.5 MTOR HSPA8 DNAJB1
3 carbohydrate phosphorylation GO:0046835 9.43 GNPTG GNPTAB
4 release of sequestered calcium ion into cytosol GO:0051209 9.43 MCOLN3 MCOLN2 MCOLN1
5 negative regulation of macroautophagy GO:0016242 9.37 NPC1 MTOR
6 cation transmembrane transport GO:0098655 9.33 MCOLN3 MCOLN2 MCOLN1
7 secretion of lysosomal enzymes GO:0033299 8.96 NAGPA GNPTAB
8 glycosphingolipid metabolic process GO:0006687 8.92 SUMF1 SMPD1 HEXA ARSA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.86 SMPD1 PNPLA6 NAGPA MAN2B1 HEXA CTSD
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 SMPD1 MAN2B1 HEXA
3 protein binding involved in protein folding GO:0044183 9.43 HSPA8 DNAJB1
4 sulfuric ester hydrolase activity GO:0008484 9.4 ARSH ARSA
5 arylsulfatase activity GO:0004065 9.37 ARSH ARSA
6 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 9.16 GNPTG GNPTAB
7 cation channel activity GO:0005261 9.13 MCOLN3 MCOLN2 MCOLN1
8 NAADP-sensitive calcium-release channel activity GO:0072345 8.8 MCOLN3 MCOLN2 MCOLN1

Sources for Mucolipidosis

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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