MCID: INC022
MIFTS: 34

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 mucolipidosis iii alpha/beta. 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 spinal cord, 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

Diseases related to Inclusion-Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis ii alpha/beta 32.0 GNPTAB GNPTG IGF2R PSAP
2 mucolipidosis iii alpha/beta 30.1 GNPTG GNPTAB CTSD
3 multiple sulfatase deficiency 29.8 CTSD ARSA
4 galactosialidosis 29.5 GLB1 CTSA
5 mucolipidosis iii gamma 11.2
6 mucolipidoses 11.2
7 hyperparathyroidism 10.2
8 articulation disorder 10.1 GNPTG GNPTAB
9 speech disorder 10.1 GNPTG GNPTAB
10 stuttering 10.1 GNPTG GNPTAB
11 gangliosidosis gm2 10.1 GLB1 CTSA
12 craniosynostosis 10.0
13 mannosidosis 10.0
14 rickets 10.0
15 mucopolysaccharidosis iv 10.0 GLB1 CTSA
16 scheie syndrome 10.0 GLB1 CTSA
17 metachromatic leukodystrophy, juvenile form 10.0 PSAP ARSA
18 metachromatic leukodystrophy 10.0 PSAP ARSA
19 metachromatic leukodystrophy, late infantile form 10.0 PSAP ARSA
20 metachromatic leukodystrophy, adult form 10.0 PSAP ARSA
21 autosomal recessive disease 10.0 GNPTG GNPTAB ARSA
22 krabbe disease 9.9 PSAP ARSA
23 pacman dysplasia 9.9
24 pulmonary hypertension 9.9
25 hydrocephalus 9.9
26 secondary hyperparathyroidism of renal origin 9.9
27 cholestasis 9.9
28 neuronal ceroid-lipofuscinoses 9.9 PSAP CTSD
29 lysosomal storage disease 9.9 GLB1 CTSA ARSA
30 glycoproteinosis 9.9 PSAP GLB1 CTSA
31 neuraminidase deficiency 9.9 PSAP GLB1 CTSA
32 mucolipidosis iv 9.9 PSAP GLB1 CTSA
33 gingival overgrowth 9.8
34 lipid storage disease 9.8 PSAP GLB1 ARSA
35 gaucher's disease 9.8 PSAP ARSA
36 gangliosidosis gm1 9.7 ARSA CTSA GLB1 PSAP
37 sphingolipidosis 9.7 ARSA CTSA PSAP GLB1
38 tay-sachs disease 9.7 PSAP GLB1 CTSA ARSA
39 fucosidosis 9.6
40 ceroid lipofuscinosis, neuronal, 1 9.6
41 hematopoietic stem cell transplantation 9.6
42 spinal cord injury 9.6
43 thrombocytopenia 9.6
44 hypophosphatemia 9.6
45 neuronal ceroid lipofuscinosis 9.6
46 influenza 9.6
47 mucopolysaccharidoses 9.6
48 argyria 9.6

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 CTSD GLB1 GNPTAB IGF2R
2 homeostasis/metabolism MP:0005376 9.97 ARSA CTSA CTSD GLB1 GNPTAB GNPTG
3 cellular MP:0005384 9.95 CTSA CTSD GLB1 GNPTAB IGF2R PSAP
4 hematopoietic system MP:0005397 9.91 ARSA CTSA CTSD GLB1 GNPTAB IGF2R
5 immune system MP:0005387 9.8 ARSA CTSA CTSD GLB1 GNPTAB PSAP
6 mortality/aging MP:0010768 9.7 CTSA CTSD GLB1 GNPTAB IGF2R PSAP
7 nervous system MP:0003631 9.5 ARSA CTSD GLB1 GNPTAB IGF2R PSAP
8 renal/urinary system MP:0005367 9.02 CTSA GLB1 GNPTAB IGF2R PSAP

Drugs & Therapeutics for Inclusion-Cell Disease

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

(show all 45)
# 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 Cytochrome P-450 Enzyme Inhibitors Phase 3
6 Antiviral Agents Phase 3
7 HIV Protease Inhibitors Phase 3
8 Cytochrome P-450 CYP3A Inhibitors Phase 3
9 Anti-Retroviral Agents Phase 3
10
protease inhibitors Phase 3
11
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
12
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
13
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
15
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
16
Busulfan Approved, Investigational Phase 2 55-98-1 2478
17
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
18
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
19 tannic acid Approved Phase 2,Not Applicable
20
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
21
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
24
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
25 Antilymphocyte Serum Phase 2
26 Prednisolone acetate Phase 2
27 Methylprednisolone acetate Phase 2
28 Immunologic Factors Phase 2,Not Applicable
29 Alkylating Agents Phase 2,Not Applicable
30 Thymoglobulin Phase 2
31 Antirheumatic Agents Phase 2,Not Applicable
32 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
33 Immunosuppressive Agents Phase 2,Not Applicable
34 Calcineurin Inhibitors Phase 2,Not Applicable
35 Antifungal Agents Phase 2,Not Applicable
36 Dermatologic Agents Phase 2,Not Applicable
37 Antimetabolites, Antineoplastic Phase 2,Not Applicable
38 Cyclosporins Phase 2,Not Applicable
39 Antimetabolites Phase 2,Not Applicable
40 Nucleic Acid Synthesis Inhibitors Phase 2
41
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
42 Antitubercular Agents Not Applicable
43 Anti-Bacterial Agents Not Applicable
44 Antibiotics, Antitubercular Not Applicable
45 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Lopinavir Based ART for HIV Infected childreN Globally (LIVING Study) Active, not 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

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, Spinal Cord

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 )
2018
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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 ARSA CTSA CTSD GLB1 GNPTG PSAP
2 extracellular space GO:0005615 9.88 ARSA CTSD GLB1 IGF2R PSAP
3 Golgi apparatus GO:0005794 9.83 GLB1 GNPTAB GNPTG IGF2R SORT1
4 intracellular membrane-bounded organelle GO:0043231 9.72 CTSA GLB1 GNPTG PSAP SORT1
5 extracellular exosome GO:0070062 9.7 ARSA CTSA CTSD GLB1 GNPTG IGF2R
6 lysosomal membrane GO:0005765 9.56 CTSA IGF2R PSAP SORT1
7 azurophil granule lumen GO:0035578 9.54 ARSA CTSA GLB1
8 clathrin-coated vesicle GO:0030136 9.49 IGF2R SORT1
9 trans-Golgi network transport vesicle GO:0030140 9.4 IGF2R SORT1
10 lysosomal lumen GO:0043202 9.35 ARSA CTSA CTSD GLB1 PSAP
11 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 beta-galactosidase activity GO:0004565 9.16 GLB1 PSAP
3 exo-alpha-sialidase activity GO:0004308 8.96 CTSA GLB1
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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