ICD
MCID: INC022
MIFTS: 46

Inclusion-Cell Disease (ICD) malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Inclusion-Cell Disease

Aliases & Descriptions for Inclusion-Cell Disease:

Name: Inclusion-Cell Disease 12 14
Inclusion Cell Disease 23 50 24
Mucolipidosis Ii 12 23 24
I-Cell Disease 12 23 24
Mucolipidosis Ii Alpha/beta 23 24
Ml Ii Alpha/beta 23 24
Mucolipidosis 2 50 69
I Cell Disease 50 29
Ml Ii 23 24
N-Acetylglucosamine 1phosphotransferase Deficiency 50
Type Ii Mucolipidosis 69
Ml Disorder Type 2 50
Leroy Disease 50
Gnpta 50
Ml 2 50
Mlii 24
Icd 50
Ml2 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0080070

Summaries for Inclusion-Cell Disease

NIH Rare Diseases : 50 mucolipidosis ii (ml ii), also known as i cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers. ml ii can also cause heart valve abnormalities and repeated respiratory infections. this reduces the individual’s ability to breathe effectively and typically results in death by early adolescence. ml ii is caused by mutation in the gnptab gene, and is inherited in an autosomal recessive manner. ml ii is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing. treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising. last updated: 7/19/2016

MalaCards based summary : Inclusion-Cell Disease, also known as inclusion cell disease, is related to mucolipidosis ii alpha/beta and brugada syndrome. 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 Micafungin and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and heart, and related phenotypes are behavior/neurological and homeostasis/metabolism

GeneReviews: NBK1828

Related Diseases for Inclusion-Cell Disease

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 mucolipidosis ii alpha/beta 11.1
2 brugada syndrome 11.1
3 catecholaminergic polymorphic ventricular tachycardia 11.0
4 reactive arthritis 10.9
5 myofibrillar myopathy 10.7
6 cardiomyopathy, familial hypertrophic 10.7
7 paraphilia disorder 10.7
8 cardiac arrest 10.7
9 impulse control disorder 10.7
10 hypertensive heart disease 10.7
11 allergic contact dermatitis 10.7
12 mood disorder 10.7
13 meningioma, familial 10.7
14 choroid plexus papilloma 10.7
15 alopecia areata 2 10.2 GNPTAB GNPTG
16 glucose metabolism disease 10.2 GNPTAB GNPTG
17 scoliosis 10.2 GNPTAB GNPTG
18 amino acid metabolic disorder 10.1 GNPTAB GNPTG
19 nonsyndromic congenital nail disorder 2 10.1 CTSD GNPTAB GNPTG
20 diffuse large b-cell lymphoma of the central nervous system 10.1 ARSA PSAP
21 follicular cholangitis and pancreatitis 10.1 ARSA PSAP
22 mental retardation, autosomal recessive 43 10.1 CTSD GNPTAB GNPTG
23 primary cutaneous anaplastic large cell lymphoma 10.1 ARSA PSAP
24 myasthenia gravis 10.1 CTSA GLB1
25 purpura 10.1 CTSA GLB1
26 severe combined immunodeficiency due to ada deficiency 10.1 CTSA GLB1
27 myopia 23, autosomal recessive 10.0 CTSA GLB1
28 partial motor epilepsy 10.0 GLB1 PSAP
29 peyronie's disease 10.0 CTSD PSAP
30 hypertelorism, preauricular sinus, punctal pits, and deafness 10.0 ARSA PSAP
31 gaucher disease, type ii 10.0 ARSA PSAP
32 glioma susceptibility 4 9.9 ARSA CTSA PSAP
33 mitochondrial dna depletion syndrome 1 9.9 ARSA PSAP
34 malignant fibrous histiocytoma of bone 9.9 CTSA GLB1 PSAP
35 nasopharyngeal carcinoma 2 9.9 CTSA GLB1 PSAP
36 spondyloenchondrodysplasia with immune dysregulation 9.9 CTSA GLB1 PSAP
37 obesity 9.9 ARSA CTSD
38 mannosidosis 9.9 ARSA CTSA GLB1
39 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 GNPTAB GNPTG IGF2R PSAP
40 mononeuritis of lower limb 9.8 ARSA GLB1 PSAP
41 dysostosis 9.7 ARSA CTSA GLB1 PSAP
42 spina bifida occulta 8.8 ARSA CTSA CTSD GLB1 GNPTAB GNPTG

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:

44
id 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 GNPTAB IGF2R PSAP SORT1 CTSA CTSD
4 hematopoietic system MP:0005397 9.91 CTSD GLB1 GNPTAB IGF2R PSAP ARSA
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 top 50) (show all 1129)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Micafungin Approved, Investigational Phase 4,Phase 2,Phase 1 235114-32-6 3081921 477468
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
3
Natalizumab Approved, Investigational Phase 4,Phase 2,Phase 3 189261-10-7
4
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
5
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
6
Gemcitabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 95058-81-4 60750
7
Ramipril Approved Phase 4 87333-19-5 5362129
8
Telmisartan Approved, Investigational Phase 4,Phase 2 144701-48-4 65999
9
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
10
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2 73590-58-6 4594
11
Asparaginase Approved Phase 4,Phase 3,Phase 2,Phase 1 9015-68-3
12
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
13
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-81-3 30323
14
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
15
Idarubicin Approved Phase 4,Phase 3,Phase 1,Phase 2 58957-92-9 42890
16
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
17
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
18
Selenium Approved, Vet_approved Phase 4,Phase 3 7782-49-2
19
Adalimumab Approved Phase 4,Phase 1,Phase 2 331731-18-1 16219006
20
Certolizumab pegol Approved Phase 4 428863-50-7
21
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 185243-69-0
22
Infliximab Approved Phase 4,Phase 3,Phase 2,Phase 1 170277-31-3
23
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
25
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
26
Ifosfamide Approved Phase 4,Phase 3,Phase 2,Phase 1 3778-73-2 3690
27
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
28
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 174722-31-7 10201696
29
Lenograstim Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 135968-09-1
30
Thiotepa Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 52-24-4 5453
31
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 33069-62-4 36314
32
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
33
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
34
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
36
Cetuximab Approved Phase 4,Phase 3,Phase 2,Phase 1 205923-56-4 56842117 2333
37
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
38
Mechlorethamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-75-2 4033
39
Mesna Approved Phase 4,Phase 3,Phase 2,Phase 1 3375-50-6 598
40
Pegaspargase Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 130167-69-0
41
Zinc Approved Phase 4,Phase 1,Phase 2 7440-66-6 32051 23994
42
Hydroxyurea Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 127-07-1 3657
43
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 55-98-1 2478
44
Fludarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
45
Vidarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 24356-66-9 32326 21704
46
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
47
Didanosine Approved Phase 4,Phase 1 69655-05-6 50599
48
Efavirenz Approved, Investigational Phase 4,Phase 1 154598-52-4 64139
49
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
50
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727

Interventional clinical trials:

(show top 50) (show all 5001)
id Name Status NCT ID Phase
1 Micafungin Prevention Study for Fungal Disease in Child Receiving Allogenic Hematopoietic Stem Cell Transplantation Unknown status NCT01135589 Phase 4
2 Study to Assess Immune Function and MRI Disease Activity in RRMS Patients When Switching From Natalizumab to Gilenya Unknown status NCT02325440 Phase 4
3 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype Unknown status NCT01431625 Phase 4
4 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
5 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
6 Maintenance Gemcitabine in the Chinese Advanced Lung Cancer Unknown status NCT01336192 Phase 4
7 Telmisartan Versus Ramipril After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4
8 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4
9 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4
10 Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia Unknown status NCT01990807 Phase 4
11 Selenium Supplementation in Pregnancy Unknown status NCT01465867 Phase 4
12 Effects of Biological Treatment on Blood Pressure and Endothelial Function in Patients With Rheumatoid Arthritis, Psoriatic Arthritis and Ankylosing Spondylitis Unknown status NCT02132234 Phase 4
13 Remission Induction in Very Early Rheumatoid Arthritis Unknown status NCT00523692 Phase 4
14 Intensification Therapy of Mature B-ALL, Burkitt and Burkitt Like and Other High Grade Non-Hodgkin's Lymphoma in Adults Unknown status NCT00797810 Phase 4
15 The Effect of Prostaglandin I2 on the Endothelial Cell Function Disorder in Type 2 Diabetes Mellitus Patients Completed NCT01061060 Phase 4
16 How Vitamin D Analogues Affect Endothelial Cells in Patients on Dialysis Completed NCT00528788 Phase 4
17 Prospective Validation Trial of Circulating Tumor Cells (CTCs) in Women With Metastatic Breast Cancer Completed NCT00493350 Phase 4
18 Antiretroviral Therapy for Advanced HIV Disease in South Africa Completed NCT00342355 Phase 4
19 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4
20 The Metformin in Coronary Artery Bypass Graft (CABG) (MetCAB) Trial Completed NCT01438723 Phase 4
21 Angioplasty in Peripheral Arterial Disease and Endothelial Function Completed NCT00660634 Phase 4
22 Pramipexole Versus Placebo in Parkinson's Disease (PD) Patients With Depressive Symptoms Completed NCT00297778 Phase 4
23 Valganciclovir for Treatment of Cytomegalovirus Infection in Solid Organ Transplant Patients Completed NCT00730769 Phase 4
24 Pilot Opened Trial in HIV-infected Patients Including an Investigational Marketed Product Completed NCT00773708 Phase 4
25 Diffuse Acute Respiratory Distress Syndrome (ARDS), Recruitment Maneuver, and sRAGE (DAMAGE Study) Completed NCT01600651 Phase 4
26 Effect of Renin Angiotensin System Blockade on the Fas Antigen (CD95) and Asymmetric Dimethylarginine (ADMA) Levels in Type-2 Diabetic Patients With Proteinuria Completed NCT00893425 Phase 4
27 Intermittent Versus Continuous Medication in the Treatment of HIV Completed NCT00001967 Phase 4
28 Understanding the Immune Response to Two Different Meningitis Vaccines Completed NCT01593514 Phase 4
29 The Absorption of Magnesium Oxide Compared to Citrate in Healthy Subjects Completed NCT00994006 Phase 4
30 Oral Glutamine in Cardiopulmonary Bypass Completed NCT02491931 Phase 4
31 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00003398 Phase 4
32 Neural Conduction Along the Visual Pathways After Oral Treatment With Citicoline in Patients With Optic Nerve Diseases Completed NCT00404729 Phase 4
33 Effect of An Oral Absorbent AST-120 in Late-stage Chronic Kidney Disease (CKD) Patients. Completed NCT01681303 Phase 4
34 KIVEXA Vs TRUVADA, Both Administered With Efavirenz, In ART-Naive Subjects Completed NCT00549198 Phase 4
35 A Trial Comparing a Paclitaxel Eluting Stent With Biodegradable Polymer Versus a Bare Metal Stent Completed NCT00825279 Phase 4
36 Evaluation of a New Thermostable Formulation of FLOLAN in Japanese Subjects Completed NCT02705807 Phase 4
37 Influence of Persistent CMV-infection on Immune Senescence Completed NCT00461695 Phase 4
38 Immunologic Action of a Single Dose Cholecalciferol Completed NCT01845142 Phase 4
39 Study of ONTAK (Denileukin Diftitox) in Cutaneous T-Cell Lymphoma (CTCL) Patients Completed NCT00050999 Phase 4
40 Organ Transplant Infection Prevention and Detection Project Completed NCT00177801 Phase 4
41 Prevention of RSV Infections in Bone Marrow Transplant Recipients Completed NCT00001903 Phase 4
42 LAL-BR/2001: Study Treatment to Low Risk ALL Completed NCT00526175 Phase 4
43 Randomized Study of Immune Response to Licensed Influenza Vaccines in Children and Adolescents Completed NCT02250274 Phase 4
44 Pulses of Vincristine and Dexamethasone in BFM Protocols for Children With Acute Lymphoblastic Leukemia Completed NCT00411541 Phase 4
45 CMV-CTL for the Treatment of CMV Infection After HSCT Recruiting NCT03004261 Phase 4
46 Gao NARASD Lithium Study Recruiting NCT02909504 Phase 4
47 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4
48 Efficacy and Safety Study of ATG for Prophylaxis of aGVHD in Matched Sibling Donor PBSCT Recruiting NCT02677181 Phase 4
49 Steroid Treatment for Hypereosinophilic Syndrome Recruiting NCT01524536 Phase 4
50 Cetuximab Compared to Mitomycin-C and 5-Fluorouracil for Locally Advanced Squamous Cell Carcinomas of the Head and Neck Recruiting NCT02015650 Phase 4

Search NIH Clinical Center for Inclusion-Cell Disease

Genetic Tests for Inclusion-Cell Disease

Genetic tests related to Inclusion-Cell Disease:

id Genetic test Affiliating Genes
1 I Cell Disease 29

Anatomical Context for Inclusion-Cell Disease

MalaCards organs/tissues related to Inclusion-Cell Disease:

39
Skin, Testes, Heart

Publications for Inclusion-Cell Disease

Articles related to Inclusion-Cell Disease:

id 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)
id Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 GRCh37 Chromosome 12, 102183729: 102183729
2 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
3 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh37 Chromosome 12, 102153884: 102153884
4 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh37 Chromosome 12, 102147277: 102147278
5 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh37 Chromosome 12, 102158014: 102158014
6 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh37 Chromosome 12, 102159069: 102159070
7 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
8 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh37 Chromosome 12, 102151349: 102151349
9 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
10 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
11 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh38 Chromosome 12, 101796764: 101796764
12 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
13 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158957
14 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
15 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
16 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
17 GNPTAB NM_024312.4(GNPTAB): c.2917dupT (p.Glu975Terfs) duplication Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
18 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
19 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
20 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
21 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh37 Chromosome 12, 102151433: 102151433
22 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
23 GNPTAB NM_024312.4(GNPTAB): c.3567dupA (p.Asn1190Lysfs) duplication Pathogenic rs281865039 GRCh37 Chromosome 12, 102147185: 102147185
24 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
25 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh37 Chromosome 12, 102179805: 102179806
26 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh38 Chromosome 12, 101780574: 101780577
27 GNPTAB NM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs) deletion Pathogenic rs34517004 GRCh37 Chromosome 12, 102164859: 102164859
28 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
29 GNPTAB NM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
30 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh37 Chromosome 12, 102164207: 102164207
31 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh37 Chromosome 12, 102163960: 102163960
32 GNPTAB NM_024312.4(GNPTAB): c.118-?_203+?dup86 duplication Pathogenic GRCh37 Chromosome 12, 102190455: 102190540
33 GNPTAB NM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs) duplication Pathogenic rs281864971 GRCh37 Chromosome 12, 102163889: 102163892
34 GNPTAB NM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs) duplication Pathogenic rs281864972 GRCh37 Chromosome 12, 102163877: 102163877
35 GNPTAB NM_024312.4(GNPTAB): c.121delG (p.Val41Phefs) deletion Pathogenic rs281864948 GRCh37 Chromosome 12, 102190537: 102190537
36 GNPTAB NM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs) duplication Pathogenic rs281864976 GRCh37 Chromosome 12, 102161892: 102161892
37 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh37 Chromosome 12, 102190522: 102190522
38 GNPTAB NM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly) single nucleotide variant Pathogenic rs281864977 GRCh37 Chromosome 12, 102161842: 102161842
39 GNPTAB NM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs) deletion Pathogenic rs397507448 GRCh37 Chromosome 12, 102161824: 102161824
40 GNPTAB NM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter) single nucleotide variant Pathogenic rs281864981 GRCh37 Chromosome 12, 102159962: 102159962
41 GNPTAB NM_024312.4(GNPTAB): c.163dupT (p.Ser55Phefs) duplication Pathogenic rs281864949 GRCh37 Chromosome 12, 102190495: 102190495
42 GNPTAB NM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs) deletion Pathogenic rs281864951 GRCh37 Chromosome 12, 102190487: 102190487
43 GNPTAB NM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs281864982 GRCh37 Chromosome 12, 102158936: 102158936
44 GNPTAB NM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs) deletion Pathogenic rs281864983 GRCh37 Chromosome 12, 102158733: 102158736
45 GNPTAB NM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs) deletion Pathogenic rs281864984 GRCh37 Chromosome 12, 102158730: 102158730
46 GNPTAB NM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs281864985 GRCh37 Chromosome 12, 102158696: 102158696
47 GNPTAB NM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs) insertion Pathogenic rs281864986 GRCh37 Chromosome 12, 102158695: 102158696
48 GNPTAB NM_024312.4(GNPTAB): c.2089dupC (p.Leu697Profs) duplication Pathogenic rs281864987 GRCh37 Chromosome 12, 102158606: 102158606
49 GNPTAB NM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn) single nucleotide variant Pathogenic rs281864989 GRCh37 Chromosome 12, 102158499: 102158499
50 GNPTAB NM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs) duplication Pathogenic rs281864990 GRCh37 Chromosome 12, 102158474: 102158475

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:

id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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