MCID: INC022
MIFTS: 33

Inclusion-Cell Disease

Categories: Metabolic diseases

Aliases & Classifications for Inclusion-Cell Disease

MalaCards integrated aliases for Inclusion-Cell Disease:

Name: Inclusion-Cell Disease 12 72 14
Type Ii Mucolipidosis 69
Mucolipidosis Ii 12
I-Cell Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080070
UMLS 69 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 gamma. An important gene associated with Inclusion-Cell Disease is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits), 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 : 72 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:

43
# 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 GLB1 GNPTAB PSAP SORT1 ARSA CTSA
6 mortality/aging MP:0010768 9.7 PSAP SORT1 CTSA CTSD GLB1 GNPTAB
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 43)
# 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
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 216503-57-0
16
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2 148-82-3 460612 4053
20
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
21 tannic acid Approved, Nutraceutical Phase 2
22 Alkylating Agents Phase 2
23 Antilymphocyte Serum Phase 2
24 Antirheumatic Agents Phase 2
25 Immunosuppressive Agents Phase 2
26 Methylprednisolone acetate Phase 2
27 Methylprednisolone Hemisuccinate Phase 2
28 Prednisolone acetate Phase 2
29 Prednisolone hemisuccinate Phase 2
30 Prednisolone phosphate Phase 2
31 Antifungal Agents Phase 2
32 Antimetabolites Phase 2
33 Antimetabolites, Antineoplastic Phase 2
34 Calcineurin Inhibitors Phase 2
35 Cyclosporins Phase 2
36 Dermatologic Agents Phase 2
37 Nucleic Acid Synthesis Inhibitors Phase 2
38
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
39
Mycophenolic acid Approved 24280-93-1 446541
40 Anti-Bacterial Agents
41 Antibiotics, Antitubercular
42 Antitubercular Agents
43 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 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:

38
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

ClinVar genetic disease variations for Inclusion-Cell Disease:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh37 Chromosome 12, 102190542: 102190542
2 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
3 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158957
4 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
5 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
6 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
7 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
8 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
9 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
10 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
11 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh37 Chromosome 12, 102151433: 102151433
12 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
13 GNPTAB NM_024312.4(GNPTAB): c.3566_3567insA (p.Asn1190Lysfs) insertion Pathogenic rs281865039 GRCh37 Chromosome 12, 102147185: 102147185
14 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
15 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh37 Chromosome 12, 102179805: 102179806
16 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh37 Chromosome 12, 102174352: 102174355
17 GNPTAB NM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs) deletion Pathogenic rs34517004 GRCh37 Chromosome 12, 102164859: 102164859
18 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
19 GNPTAB NM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
20 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh37 Chromosome 12, 102164207: 102164207
21 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh37 Chromosome 12, 102163960: 102163960
22 GNPTAB NM_024312.4(GNPTAB): c.118-?_203+?dup86 duplication Pathogenic GRCh37 Chromosome 12, 102190455: 102190540
23 GNPTAB NM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs) duplication Pathogenic rs281864971 GRCh37 Chromosome 12, 102163889: 102163892
24 GNPTAB NM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs) duplication Pathogenic rs281864972 GRCh37 Chromosome 12, 102163877: 102163877
25 GNPTAB NM_024312.4(GNPTAB): c.121delG (p.Val41Phefs) deletion Pathogenic rs281864948 GRCh37 Chromosome 12, 102190537: 102190537
26 GNPTAB NM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs) duplication Pathogenic rs281864976 GRCh37 Chromosome 12, 102161892: 102161892
27 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh37 Chromosome 12, 102190522: 102190522
28 GNPTAB NM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly) single nucleotide variant Pathogenic rs281864977 GRCh37 Chromosome 12, 102161842: 102161842
29 GNPTAB NM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs) deletion Pathogenic rs397507448 GRCh37 Chromosome 12, 102161824: 102161824
30 GNPTAB NM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter) single nucleotide variant Pathogenic rs281864981 GRCh37 Chromosome 12, 102159962: 102159962
31 GNPTAB NM_024312.4(GNPTAB): c.163_164insT (p.Ser55Phefs) insertion Pathogenic rs281864949 GRCh37 Chromosome 12, 102190495: 102190495
32 GNPTAB NM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs) deletion Pathogenic rs281864951 GRCh37 Chromosome 12, 102190487: 102190487
33 GNPTAB NM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs281864982 GRCh37 Chromosome 12, 102158936: 102158936
34 GNPTAB NM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs) deletion Pathogenic rs281864983 GRCh37 Chromosome 12, 102158733: 102158736
35 GNPTAB NM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs) deletion Pathogenic rs281864984 GRCh37 Chromosome 12, 102158730: 102158730
36 GNPTAB NM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs281864985 GRCh37 Chromosome 12, 102158696: 102158696
37 GNPTAB NM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs) insertion Pathogenic rs281864986 GRCh37 Chromosome 12, 102158695: 102158696
38 GNPTAB NM_024312.4(GNPTAB): c.2089_2090insC (p.Leu697Profs) insertion Pathogenic rs281864987 GRCh37 Chromosome 12, 102158606: 102158606
39 GNPTAB NM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn) single nucleotide variant Pathogenic rs281864989 GRCh37 Chromosome 12, 102158499: 102158499
40 GNPTAB NM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs) duplication Pathogenic rs281864990 GRCh37 Chromosome 12, 102158474: 102158475
41 GNPTAB NM_024312.4(GNPTAB): c.2249_2250insA (p.Asn750Lysfs) insertion Pathogenic rs281864991 GRCh37 Chromosome 12, 102158446: 102158446
42 GNPTAB NM_024312.4(GNPTAB): c.2275_2276delAA (p.Asn759Terfs) deletion Pathogenic rs281864992 GRCh37 Chromosome 12, 102158419: 102158420
43 GNPTAB NM_024312.4(GNPTAB): c.2422delC (p.Leu808Trpfs) deletion Pathogenic rs281864993 GRCh37 Chromosome 12, 102158273: 102158273
44 GNPTAB NM_024312.4(GNPTAB): c.2427delC (p.Leu810Trpfs) deletion Pathogenic rs281864994 GRCh37 Chromosome 12, 102158268: 102158268
45 GNPTAB NM_024312.4(GNPTAB): c.2544delA (p.Glu849Lysfs) deletion Pathogenic rs281864995 GRCh37 Chromosome 12, 102158151: 102158151
46 GNPTAB NM_024312.4(GNPTAB): c.2550_2554delGAAAA (p.Lys850Asnfs) deletion Pathogenic/Likely pathogenic rs281864996 GRCh37 Chromosome 12, 102158141: 102158145
47 GNPTAB NM_024312.4(GNPTAB): c.2664C> G (p.Tyr888Ter) single nucleotide variant Pathogenic rs281864998 GRCh37 Chromosome 12, 102158031: 102158031
48 GNPTAB NM_024312.4(GNPTAB): c.2693_2694insA (p.Tyr899Valfs) insertion Pathogenic rs281864999 GRCh37 Chromosome 12, 102158002: 102158002
49 GNPTAB NM_024312.4(GNPTAB): c.3002T> C (p.Leu1001Pro) single nucleotide variant Pathogenic rs281865006 GRCh37 Chromosome 12, 102155038: 102155038
50 GNPTAB NM_024312.4(GNPTAB): c.3061C> T (p.Gln1021Ter) single nucleotide variant Pathogenic rs281865008 GRCh37 Chromosome 12, 102154979: 102154979

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 9.65 CTSA GLB1 GNPTG PSAP SORT1
6 azurophil granule lumen GO:0035578 9.5 ARSA CTSA GLB1
7 lysosomal membrane GO:0005765 9.46 CTSA IGF2R PSAP SORT1
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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