MCID: MCL001
MIFTS: 46

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 59 55 6 15 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0080488
MESH via Orphanet 45 D009081
UMLS via Orphanet 73 C0026697
Orphanet 59 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 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 tannic acid and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 75 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 173)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii alpha/beta 34.8 GNPTG GNPTAB CTSD
2 mucolipidosis iv 34.3 MCOLN1 HEXA
3 mucolipidosis ii alpha/beta 33.2 SMPD1 IGF2R GNPTG GNPTAB ARSH
4 mucolipidoses 33.1 HEXA GNPTAB
5 inclusion-cell disease 32.4 IGF2R GNPTG GNPTAB CTSD ARSA
6 mucopolysaccharidosis, type vi 32.1 ARSH ARSA
7 autosomal recessive disease 31.1 GNPTG GNPTAB ARSA
8 lysosomal storage disease 31.0 SMPD1 MCOLN1 MAN2B1 HEXA ARSA
9 mucopolysaccharidosis, type ii 30.5 ARSH ARSA
10 mucopolysaccharidosis-plus syndrome 30.3 HEXA ARSH
11 niemann-pick disease 30.2 SMPD1 NPC1
12 stuttering 30.1 NAGPA GNPTG GNPTAB
13 inherited metabolic disorder 29.7 NPC1 HEXA ARSA
14 tay-sachs disease 29.6 HEXA ARSA
15 multiple sulfatase deficiency 29.4 NPC1 CTSD ARSH ARSA
16 niemann-pick disease, type c1 29.1 SMPD1 NPC1
17 sphingolipidosis 28.7 SMPD1 NPC1 MCOLN1 HEXA ARSA
18 mucolipidosis iii gamma 12.9
19 glycoproteinosis 12.2
20 neuraminidase deficiency 12.2
21 carpal tunnel syndrome 11.5
22 hurler syndrome 11.5
23 pacman dysplasia 11.5
24 dysostosis 10.5
25 lysosomal storage disease with skeletal involvement 10.5
26 retinal degeneration 10.5
27 mucopolysaccharidoses 10.5
28 hyperparathyroidism 10.4
29 rickets 10.4
30 mucopolysaccharidosis, type iiia 10.4 GNPTAB ARSH
31 strabismus 10.3
32 mechanical strabismus 10.3
33 hypotonia 10.3
34 ataxia and polyneuropathy, adult-onset 10.2
35 yemenite deaf-blind hypopigmentation syndrome 10.2
36 myoclonus 10.2
37 articulation disorder 10.2 NAGPA GNPTG GNPTAB
38 speech disorder 10.2 NAGPA GNPTG GNPTAB
39 3-methylglutaconic aciduria, type iii 10.2
40 scoliosis 10.2
41 iron metabolism disease 10.2
42 fundus dystrophy 10.2
43 gangliosidosis 10.2
44 inherited retinal disorder 10.2
45 cerebral palsy, ataxic, autosomal recessive 10.2 MCOLN1 IGF2R
46 bone disease 10.2
47 secondary hyperparathyroidism 10.2
48 dilated cardiomyopathy 10.2
49 gaucher's disease 10.2
50 lysosomal disease 10.2

Graphical network of the top 20 diseases related to Mucolipidosis:



Diseases related to Mucolipidosis

Symptoms & Phenotypes for Mucolipidosis

MGI Mouse Phenotypes related to Mucolipidosis:

46
# 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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
4
Melphalan Approved Phase 2 148-82-3 460612 4053
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
7
Hydroxyurea Approved Phase 2 127-07-1 3657
8 Antifungal Agents Phase 2
9 Alkylating Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Immunosuppressive Agents Phase 2
12 Cyclosporins Phase 2
13 Antineoplastic Agents, Immunological Phase 2
14 Dermatologic Agents Phase 2
15 Immunologic Factors Phase 2
16 Calcineurin Inhibitors Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antirheumatic Agents Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 2
22
Mycophenolic acid Approved 24280-93-1 446541
23 polysaccharide-K
24 Anti-Bacterial Agents
25 Antitubercular Agents
26 Antibiotics, Antitubercular
27 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

Anatomical Context for Mucolipidosis

MalaCards organs/tissues related to Mucolipidosis:

41
Skin, Bone, Testes, Brain, Liver, Kidney, Bone Marrow

Publications for Mucolipidosis

Articles related to Mucolipidosis:

(show top 50) (show all 829)
# 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. 9 38
19634183 2009
2
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. 9 38
19197337 2009
3
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III. 38
30712120 2019
4
Sleep-disordered breathing in children with mucolipidosis. 38
31038846 2019
5
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. 38
30882951 2019
6
B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease). 38
30464332 2019
7
Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature. 38
29620587 2019
8
Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder MLIV in Mcoln1-/- mouse model. 38
31317194 2019
9
[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. 38
31188938 2019
10
Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016). 38
31193155 2019
11
[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β]. 38
31055817 2019
12
Dysregulation of Microglial Function Contributes to Neuronal Impairment in Mcoln1a-Deficient Zebrafish. 38
30897512 2019
13
ZnT3 expression levels are down-regulated in the brain of Mcoln1 knockout mice. 38
30914059 2019
14
Current concepts in the neuropathogenesis of mucolipidosis type IV. 38
29770442 2019
15
Clinical implementation of gene panel testing for lysosomal storage diseases. 38
30548430 2019
16
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. 38
29872134 2019
17
A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus. 38
30655525 2019
18
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease. 38
30209781 2019
19
Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease). 38
31320815 2019
20
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. 38
30507725 2019
21
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). 38
30591066 2018
22
Mucolipidosis type IV in a child. 38
30120981 2018
23
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy. 38
30610051 2018
24
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD). 38
30317186 2018
25
Mucolipidosis type III, a series of adult patients. 38
29704188 2018
26
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). 38
30105123 2018
27
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 38
30235039 2018
28
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. 38
30208878 2018
29
Recycling of Golgi glycosyltransferases requires direct binding to coatomer. 38
30126980 2018
30
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells. 38
29773673 2018
31
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. 38
29623569 2018
32
Fingolimod Phosphate Inhibits Astrocyte Inflammatory Activity in Mucolipidosis IV. 38
29771310 2018
33
Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. 38
29900995 2018
34
Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. 38
27619328 2018
35
[Mucolipidosis type IV and corneal lesion: A pediatric case report]. 38
29548701 2018
36
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. 38
29289611 2018
37
TGF-ß Regulates Cathepsin Activation during Normal and Pathogenic Development. 38
29539424 2018
38
Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. 38
29170090 2018
39
Peripheral nerve ultrasound findings in mucolipidosis type 3. 38
29218369 2018
40
TRPML1: The Ca(2+)retaker of the lysosome. 38
28689729 2018
41
Transient Receptor Potential (TRP) Channels. 38
29464560 2018
42
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. 38
28918368 2017
43
Site-1 protease and lysosomal homeostasis. 38
28693924 2017
44
Cryo-EM structures of the mammalian endo-lysosomal TRPML1 channel elucidate the combined regulation mechanism. 38
28936784 2017
45
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation. 38
28620732 2017
46
From mucolipidosis type IV to Ebola: TRPML and two-pore channels at the crossroads of endo-lysosomal trafficking and disease. 38
28457591 2017
47
Human TRPML1 channel structures in open and closed conformations. 38
29019983 2017
48
Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3. 38
29019979 2017
49
Structure of mammalian endolysosomal TRPML1 channel in nanodiscs. 38
29019981 2017
50
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. 38
28610891 2017

Variations for Mucolipidosis

ClinVar genetic disease variations for Mucolipidosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNPTAB NM_024312.5(GNPTAB): c.612_615ACAG[1] (p.Thr206fs) short repeat Pathogenic rs281865024 12:102174352-102174355 12:101780574-101780577
2 GNPTAB NM_024312.5(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 12:102164207-102164207 12:101770429-101770429
3 GNPTAB NM_024312.5(GNPTAB): c.3091C> T (p.Arg1031Ter) single nucleotide variant Pathogenic rs281865009 12:102154949-102154949 12:101761171-101761171
4 GNPTAB NM_024312.5(GNPTAB): c.749dup (p.Asn250fs) duplication Pathogenic/Likely pathogenic rs281864964 12:102173952-102173952 12:101780174-101780174
5 GNPTAB NM_024312.5(GNPTAB): c.2545_2549GAAAA[1] (p.Lys850fs) short repeat Likely pathogenic rs281864996 12:102158141-102158145 12:101764363-101764367

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 SMPD1 HEXA ARSH ARSA
2 11.49 SMPD1 NPC1 NAGPA MCOLN1 MAN2B1 LAPTM4B
3 10.9 SMPD1 CTSD
4 10.41 MAN2B1 HEXA

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 SMPD1 NPC1 MAN2B1 IGF2R HEXA GNPTG
2 Golgi apparatus GO:0005794 9.8 NPC1 NAGPA IGF2R GNPTG GNPTAB
3 endosome GO:0005768 9.63 SMPD1 NPC1 MCOLN1 LAPTM4B IGF2R ARSA
4 lysosomal membrane GO:0005765 9.62 NPC1 MCOLN1 LAPTM4B IGF2R
5 late endosome membrane GO:0031902 9.54 NPC1 MCOLN1 LAPTM4B
6 lysosomal lumen GO:0043202 9.35 SMPD1 MAN2B1 HEXA CTSD ARSA
7 lysosome GO:0005764 9.28 SMPD1 NPC1 MCOLN1 MAN2B1 LAPTM4B IGF2R
8 integral component of membrane GO:0016021 10.09 SMPD1 NPC1 NAGPA MCOLN1 LAPTM4B IGF2R

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 MAN2B1 IGF2R CTSD ARSA
2 carbohydrate metabolic process GO:0005975 9.63 NAGPA MAN2B1 HEXA
3 metabolic process GO:0008152 9.58 SMPD1 MAN2B1 HEXA
4 lysosome organization GO:0007040 9.43 NAGPA GNPTAB
5 carbohydrate phosphorylation GO:0046835 9.32 GNPTG GNPTAB
6 lysosomal transport GO:0007041 9.26 NPC1 IGF2R
7 secretion of lysosomal enzymes GO:0033299 9.16 NAGPA GNPTAB
8 glycosphingolipid metabolic process GO:0006687 9.13 SMPD1 HEXA ARSA
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 SMPD1 NAGPA MAN2B1 HEXA CTSD ARSH
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.33 SMPD1 MAN2B1 HEXA
3 sulfuric ester hydrolase activity GO:0008484 9.32 ARSH ARSA
4 arylsulfatase activity GO:0004065 9.26 ARSH ARSA
5 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB

Sources for Mucolipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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