GD3
MCID: GCH017
MIFTS: 46

Gaucher Disease, Type Iii (GD3) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Gaucher Disease, Type Iii

Aliases & Descriptions for Gaucher Disease, Type Iii:

Name: Gaucher Disease, Type Iii 54 13 38
Gaucher Disease, Subacute Neuronopathic Type 12 50 56
Gaucher Disease Type 3 50 24 56
Gaucher Disease, Juvenile and Adult, Cerebral 12 50
Gaucher Disease, Chronic Neuronopathic Type 12 50
Subacute Neuronopathic Gaucher Disease 66 29
Gd Iii 12 66
Cerebral Juvenile and Adult Form of Gaucher Disease 56
Cerebral, Juvenile and Adult, Gaucher Disease 66
Gaucher Disease Chronic Neuronopathic Type 66
Chronic Neuronopathic Gaucher Disease 56
Gaucher's Disease Type Iii 12
Gaucher Disease Type Iii 24
Gaucher Disease Type Ii 66
Gaucher Disease, Type 2 69
Gaucher Disease, Type 3 69
Type 3 Gaucher Disease 52
Norrbottnian Disease 24
Gaucher Disease 3 66
Gd 3 50
Gd3 66

Characteristics:

Orphanet epidemiological data:

56
gaucher disease type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages;

HPO:

32
gaucher disease, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability adult onset


Classifications:



External Ids:

OMIM 54 231000
Disease Ontology 12 DOID:0110959
ICD10 33 E75.2
Orphanet 56 ORPHA77261
UMLS via Orphanet 70 C0268251
ICD10 via Orphanet 34 E75.2
MeSH 42 D005776

Summaries for Gaucher Disease, Type Iii

OMIM : 54 Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower... (231000) more...

MalaCards based summary : Gaucher Disease, Type Iii, also known as gaucher disease, subacute neuronopathic type, is related to gaucher disease, type ii and gaucher disease, type iiic, and has symptoms including ataxia, fatigue and ophthalmoplegia. An important gene associated with Gaucher Disease, Type Iii is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye.

Disease Ontology : 12 A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

UniProtKB/Swiss-Prot : 66 Gaucher disease 3: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.

Related Diseases for Gaucher Disease, Type Iii

Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I Gaucher Disease, Type Ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

Diseases related to Gaucher Disease, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 gaucher disease, type ii 33.1 GBA PSAP
2 gaucher disease, type iiic 31.1 GBA PSAP
3 ocular motor apraxia 11.0
4 gaucher's disease 10.9
5 melanoma 10.2
6 glioblastoma 10.0
7 protein-losing enteropathy 9.9
8 breast cancer 9.9
9 osteochondrosis 9.9 GBA PSAP
10 dysostosis 9.8 GBA PSAP
11 neuroblastoma 9.8
12 neuronitis 9.8
13 lymphosarcoma 9.8
14 hypothalamic disease 9.8 GBA PSAP
15 mannosidosis 9.7
16 leukodystrophy 9.7
17 fucosidosis 9.7
18 central nervous system disease 9.7
19 nervous system disease 9.7
20 aspartylglucosaminuria 9.7
21 metachromatic leukodystrophy 9.7
22 adrenoleukodystrophy 9.7
23 mononeuritis of lower limb 9.7 GBA PSAP
24 leukemia 9.7
25 miller fisher syndrome 9.7
26 lung cancer 9.7
27 hypoxia 9.7
28 endotheliitis 9.7
29 prostatitis 9.6

Graphical network of the top 20 diseases related to Gaucher Disease, Type Iii:



Diseases related to Gaucher Disease, Type Iii

Symptoms & Phenotypes for Gaucher Disease, Type Iii

Symptoms by clinical synopsis from OMIM:

231000

Clinical features from OMIM:

231000

Human phenotypes related to Gaucher Disease, Type Iii:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000602
4 bone pain 56 32 Very frequent (99-80%) HP:0002653
5 gait disturbance 56 32 Frequent (79-30%) HP:0001288
6 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
7 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
8 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
9 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
10 aseptic necrosis 56 32 Very frequent (99-80%) HP:0010885
11 proteinuria 56 32 Occasional (29-5%) HP:0000093
12 delayed puberty 56 32 Frequent (79-30%) HP:0000823
13 anemia 56 32 Frequent (79-30%) HP:0001903
14 pancytopenia 56 32 Frequent (79-30%) HP:0001876
15 generalized myoclonic seizures 56 32 Frequent (79-30%) HP:0002123
16 strabismus 56 32 Very frequent (99-80%) HP:0000486
17 hydrops fetalis 56 32 Frequent (79-30%) HP:0001789
18 thrombocytopenia 56 32 Frequent (79-30%) HP:0001873
19 hematuria 56 32 Occasional (29-5%) HP:0000790
20 abnormality of the myocardium 56 32 Occasional (29-5%) HP:0001637
21 mitral valve calcification 56 32 Occasional (29-5%) HP:0004382
22 dementia 56 32 Frequent (79-30%) HP:0000726
23 increased bone mineral density 56 32 Very frequent (99-80%) HP:0011001
24 osteolysis 56 32 Very frequent (99-80%) HP:0002797
25 encephalopathy 56 32 Very frequent (99-80%) HP:0001298
26 aortic valve calcification 56 32 Occasional (29-5%) HP:0004380
27 increased antibody level in blood 56 32 Frequent (79-30%) HP:0010702
28 increased susceptibility to fractures 56 32 Very frequent (99-80%) HP:0002659
29 pericardial effusion 56 32 Occasional (29-5%) HP:0001698
30 myoclonus 32 HP:0001336
31 depression 32 HP:0000716
32 neurological speech impairment 32 HP:0002167
33 short stature 32 HP:0004322
34 pulmonary hypertension 56 Occasional (29-5%)
35 abnormality of the heart valves 56 Occasional (29-5%)
36 growth delay 56 Frequent (79-30%)
37 decreased body weight 32 HP:0004325
38 motor delay 32 HP:0001270
39 horizontal supranuclear gaze palsy 32 HP:0007817
40 interstitial pulmonary disease 56 Occasional (29-5%)
41 spastic paraparesis 32 HP:0002313
42 progressive neurologic deterioration 32 HP:0002344
43 pulmonary arterial hypertension 32 HP:0002092
44 interstitial pulmonary abnormality 32 HP:0006530
45 vascular calcification 32 HP:0004934
46 decreased beta-glucocerebrosidase protein and activity 32 HP:0003656

UMLS symptoms related to Gaucher Disease, Type Iii:


muscle rigidity, muscle spasticity, seizures, ataxia, paraparesis, spastic

Drugs & Therapeutics for Gaucher Disease, Type Iii

Drugs for Gaucher Disease, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Miglustat Approved Phase 3,Phase 2 72599-27-0 51634
5
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
6
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
7
Eliglustat Approved Phase 3,Phase 2 491833-29-5 23652731
8 tannic acid Approved, Nutraceutical Phase 3
9
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
10 Prednisolone acetate Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3
12 Glycoside Hydrolase Inhibitors Phase 3,Phase 2
13 Hypoglycemic Agents Phase 3,Phase 2
14 Anti-HIV Agents Phase 3,Phase 2
15 Prednisolone hemisuccinate Phase 2, Phase 3
16 Prednisolone phosphate Phase 2, Phase 3
17 Anti-Infective Agents Phase 3,Phase 2
18 Immunosuppressive Agents Phase 2, Phase 3
19 Antilymphocyte Serum Phase 2, Phase 3
20 Anti-Retroviral Agents Phase 3,Phase 2
21 Methylprednisolone acetate Phase 2, Phase 3
22 Methylprednisolone Hemisuccinate Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3
24 Antineoplastic Agents, Alkylating Phase 2, Phase 3
25 Antiviral Agents Phase 3,Phase 2
26 Cardiac Glycosides Phase 3,Phase 2
27
Imidacloprid 105827-78-9 86418
28 interferons
29 Interferon-gamma
30 Immunoglobulins
31 Antibodies
32 Autoantibodies

Interventional clinical trials:

(show all 37)
id Name Status NCT ID Phase
1 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
2 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3
3 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3
4 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3
5 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
6 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3
7 Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3
8 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3
9 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
10 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
11 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
12 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
13 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
14 Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3
15 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3
16 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
17 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2
18 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2
19 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2
20 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2
21 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1
22 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
23 Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease Completed NCT00004294 Phase 1
24 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
25 A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101 Terminated NCT00875160 Phase 1
26 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
27 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
28 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
29 Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease Completed NCT00351156
30 Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease Completed NCT00244582
31 Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) Completed NCT01136304
32 Auto-antibodies Prevalence and CD1 Role in Gaucher Disease Completed NCT02650219
33 A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease Completed NCT00465062
34 SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease Recruiting NCT02605603
35 LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
36 Thrombocytopathy in Gaucher Disease Patients Recruiting NCT01344096
37 A Screening Study Evaluating Disease Status of Gaucher Type I Patients Withdrawn NCT00795197

Search NIH Clinical Center for Gaucher Disease, Type Iii

Genetic Tests for Gaucher Disease, Type Iii

Genetic tests related to Gaucher Disease, Type Iii:

id Genetic test Affiliating Genes
1 Subacute Neuronopathic Gaucher's Disease 29
2 Gaucher Disease Type 3 (subacute/chronic) 24

Anatomical Context for Gaucher Disease, Type Iii

MalaCards organs/tissues related to Gaucher Disease, Type Iii:

39
Bone, Heart, Eye, Bone Marrow

Publications for Gaucher Disease, Type Iii

Articles related to Gaucher Disease, Type Iii:

id Title Authors Year
1
Pulmonary involvement in siblings with Gaucher disease type III. ( 22352271 )
2011
2
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. ( 10226749 )
1999
3
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type). ( 1508850 )
1992

Variations for Gaucher Disease, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type Iii:

66
id Symbol AA change Variation ID SNP ID
1 GBA p.Val437Leu VAR_010070
2 GBA p.Thr530Ile VAR_010075 rs78016673

ClinVar genetic disease variations for Gaucher Disease, Type Iii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
3 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
4 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
5 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
6 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
7 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
8 GBA NM_001005741.2(GBA): c.1174C> G (p.Arg392Gly) single nucleotide variant Pathogenic rs121908308 GRCh37 Chromosome 1, 155206086: 155206086
9 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
10 GBA NM_001005741.2(GBA): c.354G> C (p.Lys118Asn) single nucleotide variant Pathogenic rs121908312 GRCh37 Chromosome 1, 155209507: 155209507

Expression for Gaucher Disease, Type Iii

Search GEO for disease gene expression data for Gaucher Disease, Type Iii.

Pathways for Gaucher Disease, Type Iii

Pathways related to Gaucher Disease, Type Iii according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 GBA PSAP
2 10.71 GBA PSAP

GO Terms for Gaucher Disease, Type Iii

Cellular components related to Gaucher Disease, Type Iii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.16 GBA PSAP
2 lysosomal membrane GO:0005765 8.96 GBA PSAP
3 lysosomal lumen GO:0043202 8.62 GBA PSAP

Biological processes related to Gaucher Disease, Type Iii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.16 GBA PSAP
2 glycosphingolipid metabolic process GO:0006687 8.96 GBA PSAP
3 sphingolipid metabolic process GO:0006665 8.62 GBA PSAP

Sources for Gaucher Disease, Type Iii

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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