MCID: INC022
MIFTS: 32

Inclusion-Cell Disease

Categories: Metabolic diseases

Aliases & Classifications for Inclusion-Cell Disease

MalaCards integrated aliases for Inclusion-Cell Disease:

Name: Inclusion-Cell Disease 12 76 15
Type Ii Mucolipidosis 73
Mucolipidosis Ii 12
I-Cell Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080070
UMLS 73 C0020725

Summaries for Inclusion-Cell Disease

MalaCards based summary : Inclusion-Cell Disease, also known as type ii mucolipidosis, is related to mucolipidosis ii alpha/beta and articulation disorder. An important gene associated with Inclusion-Cell Disease is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Lamivudine and Lopinavir have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are behavior/neurological and homeostasis/metabolism

Wikipedia : 76 Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal... more...

Related Diseases for Inclusion-Cell Disease

Graphical network of the top 20 diseases related to Inclusion-Cell Disease:



Diseases related to Inclusion-Cell Disease

Symptoms & Phenotypes for Inclusion-Cell Disease

MGI Mouse Phenotypes related to Inclusion-Cell Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 ARSA CTSA IGF2R CTSD PSAP GLB1
2 homeostasis/metabolism MP:0005376 9.97 CTSA GNPTG IGF2R CTSD PSAP GLB1
3 cellular MP:0005384 9.95 GNPTAB CTSA IGF2R CTSD PSAP GLB1
4 hematopoietic system MP:0005397 9.91 ARSA CTSA IGF2R CTSD PSAP GLB1
5 immune system MP:0005387 9.8 GNPTAB ARSA CTSA CTSD PSAP GLB1
6 mortality/aging MP:0010768 9.7 GNPTAB CTSA IGF2R CTSD PSAP GLB1
7 nervous system MP:0003631 9.5 GNPTAB ARSA IGF2R CTSD PSAP GLB1
8 renal/urinary system MP:0005367 9.02 GNPTAB CTSA IGF2R PSAP GLB1

Drugs & Therapeutics for Inclusion-Cell Disease

Drugs for Inclusion-Cell Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
2
Lopinavir Approved Phase 3 192725-17-0 92727
3 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
4 Anti-HIV Agents Phase 3
5 Anti-Retroviral Agents Phase 3
6 Antiviral Agents Phase 3
7 Cytochrome P-450 CYP3A Inhibitors Phase 3
8 Cytochrome P-450 Enzyme Inhibitors Phase 3
9 HIV Protease Inhibitors Phase 3
10
protease inhibitors Phase 3
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
15
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
16
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
20
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
21 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
22 Alkylating Agents Phase 2,Not Applicable
23 Antilymphocyte Serum Phase 2
24 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
25 Antirheumatic Agents Phase 2,Not Applicable
26 Immunosuppressive Agents Phase 2,Not Applicable
27 Methylprednisolone acetate Phase 2
28 Methylprednisolone Hemisuccinate Phase 2
29 Prednisolone acetate Phase 2
30 Prednisolone hemisuccinate Phase 2
31 Prednisolone phosphate Phase 2
32 Antifungal Agents Phase 2,Not Applicable
33 Antimetabolites Phase 2,Not Applicable
34 Antimetabolites, Antineoplastic Phase 2,Not Applicable
35 Calcineurin Inhibitors Phase 2,Not Applicable
36 Cyclosporins Phase 2,Not Applicable
37 Dermatologic Agents Phase 2,Not Applicable
38 Nucleic Acid Synthesis Inhibitors Phase 2
39
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
40
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
41 Anti-Bacterial Agents Not Applicable
42 Antibiotics, Antitubercular Not Applicable
43 Antitubercular Agents Not Applicable
44 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Lopinavir Based ART for HIV Infected childreN Globally (LIVING Study) Recruiting NCT02346487 Phase 3 LPV/RTV pellets and AZT/3TC or ABC/3TC
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
4 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
6 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
7 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
8 Biomarker for Mucolipidosis Disorder Type I, II, III or IV Recruiting NCT02298673

Search NIH Clinical Center for Inclusion-Cell Disease

Genetic Tests for Inclusion-Cell Disease

Anatomical Context for Inclusion-Cell Disease

MalaCards organs/tissues related to Inclusion-Cell Disease:

41
Skin

Publications for Inclusion-Cell Disease

Articles related to Inclusion-Cell Disease:

# Title Authors Year
1
Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. ( 27619328 )
2016
2
Decreased apoptotic response of inclusion-cell disease fibroblasts: a consequence of lysosomal enzyme missorting? ( 11855852 )
2002
3
Inclusion cell disease (I-cell). ( 18730990 )
1973
4
I (Inclusion) cell disease, Leroy's syndrome (arly alveolar ridge hypertrophy, joint limitation, thick, tight skin in early infancy). ( 4341138 )
1972

Variations for Inclusion-Cell Disease

Expression for Inclusion-Cell Disease

Search GEO for disease gene expression data for Inclusion-Cell Disease.

Pathways for Inclusion-Cell Disease

Pathways related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 ARSA CTSA GLB1 PSAP
2 11.37 ARSA CTSA CTSD GLB1 GNPTAB GNPTG

GO Terms for Inclusion-Cell Disease

Cellular components related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 ARSA CTSA CTSD GLB1 GNPTG PSAP
2 extracellular exosome GO:0070062 9.91 ARSA CTSA CTSD GLB1 GNPTG IGF2R
3 extracellular space GO:0005615 9.88 ARSA CTSD GLB1 IGF2R PSAP
4 Golgi apparatus GO:0005794 9.83 GLB1 GNPTAB GNPTG IGF2R SORT1
5 intracellular membrane-bounded organelle GO:0043231 9.72 CTSA GLB1 GNPTG PSAP SORT1
6 lysosomal membrane GO:0005765 9.46 CTSA IGF2R PSAP SORT1
7 azurophil granule lumen GO:0035578 9.43 ARSA CTSA GLB1
8 trans-Golgi network transport vesicle GO:0030140 9.4 IGF2R SORT1
9 lysosomal lumen GO:0043202 9.35 ARSA CTSA CTSD GLB1 PSAP
10 lysosome GO:0005764 9.17 ARSA CTSA CTSD GLB1 IGF2R PSAP

Biological processes related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.43 ARSA CTSA CTSD GLB1 IGF2R PSAP
2 carbohydrate phosphorylation GO:0046835 9.26 GNPTAB GNPTG
3 N-glycan processing to lysosome GO:0016256 9.16 GNPTAB GNPTG
4 glycosphingolipid metabolic process GO:0006687 8.92 ARSA CTSA GLB1 PSAP

Molecular functions related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme activator activity GO:0008047 9.26 CTSA PSAP
2 exo-alpha-sialidase activity GO:0004308 9.16 CTSA GLB1
3 beta-galactosidase activity GO:0004565 8.96 GLB1 PSAP
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTAB GNPTG

Sources for Inclusion-Cell Disease

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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