GD2
MCID: GCH016
MIFTS: 43

Gaucher Disease, Type Ii (GD2) malady

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

Aliases & Classifications for Gaucher Disease, Type Ii

Aliases & Descriptions for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 54 13 52 38
Acute Neuronopathic Gaucher Disease 56 66 29
Gaucher Disease Type 2 50 24 56
Gaucher Disease, Acute Neuronopathic Type 12 50
Infantile Cerebral Gaucher Disease 12 56
Gaucher Disease Type Ii 24 66
Gd Ii 12 66
Gaucher Disease, Infantile Cerebral 50
Gaucher's Disease Type Ii 12
Gaucher Disease, Type 2 69
Type 2 Gaucher Disease 52
Gaucher Disease 2 66
Gd 2 50
Gd2 66

Characteristics:

Orphanet epidemiological data:

56
gaucher disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: early childhood,infantile;

HPO:

32
gaucher disease, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 230900
Disease Ontology 12 DOID:0110958
ICD10 33 E75.2
Orphanet 56 ORPHA77260
UMLS via Orphanet 70 C0268250
ICD10 via Orphanet 34 E75.2
MedGen 40 C0268250
MeSH 42 D005776

Summaries for Gaucher Disease, Type Ii

NIH Rare Diseases : 50 gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. liver and spleen enlargement are often apparent by 3 months of age. patients typically develop extensive and progressive brain damage and many die by 2 years of age. gaucher disease type 2 is caused by mutations in the gba gene. it is inherited in an autosomal recessive pattern. while enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition. last updated: 2/22/2010

MalaCards based summary : Gaucher Disease, Type Ii, also known as acute neuronopathic gaucher disease, is related to gaucher disease, type iii and gaucher's disease, and has symptoms including respiratory distress, dystonia and ophthalmoplegia. An important gene associated with Gaucher Disease, Type Ii is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Alfacalcidol and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and bone.

Disease Ontology : 12 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

OMIM : 54 Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years... (230900) more...

UniProtKB/Swiss-Prot : 66 Gaucher disease 2: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.

Related Diseases for Gaucher Disease, Type Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 32.2 GBA PSAP
2 gaucher's disease 11.5
3 gaucher disease, type iiic 9.9 GBA PSAP
4 osteochondrosis 9.9 GBA PSAP
5 dysostosis 9.8 GBA PSAP
6 hypothalamic disease 9.8 GBA PSAP
7 mononeuritis of lower limb 9.7 GBA PSAP
8 osteomyelitis 9.7
9 cholestasis 9.7
10 ichthyosis 9.7
11 hydrops fetalis 9.7
12 neuroblastoma 9.6

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



Diseases related to Gaucher Disease, Type Ii

Symptoms & Phenotypes for Gaucher Disease, Type Ii

Symptoms by clinical synopsis from OMIM:

230900

Clinical features from OMIM:

230900

Human phenotypes related to Gaucher Disease, Type Ii:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 56 32 Frequent (79-30%) HP:0002098
2 dystonia 56 32 Very frequent (99-80%) HP:0001332
3 ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000602
4 spasticity 56 32 Very frequent (99-80%) HP:0001257
5 dysphagia 56 32 Very frequent (99-80%) HP:0002015
6 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
7 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
8 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
9 flexion contracture 56 32 Frequent (79-30%) HP:0001371
10 generalized myoclonic seizures 56 32 Frequent (79-30%) HP:0002123
11 strabismus 56 32 Very frequent (99-80%) HP:0000486
12 cough 56 32 Frequent (79-30%) HP:0012735
13 encephalopathy 56 32 Very frequent (99-80%) HP:0001298
14 cardiac arrest 56 32 Occasional (29-5%) HP:0001695
15 abnormal pattern of respiration 56 32 Very frequent (99-80%) HP:0002793
16 seizures 32 HP:0001250
17 hyperreflexia 32 HP:0001347
18 failure to thrive 32 HP:0001508
19 global developmental delay 32 HP:0001263
20 anemia 32 HP:0001903
21 feeding difficulties 32 HP:0011968
22 thrombocytopenia 32 HP:0001873
23 apnea 32 HP:0002104
24 rigidity 32 HP:0002063
25 trismus 32 HP:0000211
26 cerebral atrophy 32 HP:0002059
27 oculomotor apraxia 32 HP:0000657
28 esotropia 32 HP:0000565
29 progressive neurologic deterioration 32 HP:0002344
30 protuberant abdomen 32 HP:0001538
31 recurrent aspiration pneumonia 32 HP:0002100
32 bulbar signs 32 HP:0002483

UMLS symptoms related to Gaucher Disease, Type Ii:


muscle rigidity, muscle spasticity, seizures

Drugs & Therapeutics for Gaucher Disease, Type Ii

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

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
2 vitamin d Phase 4,Phase 2
3 Vitamins Phase 4,Phase 2
4 Bone Density Conservation Agents Phase 4
5 Hydroxycholecalciferols Phase 4
6 Micronutrients Phase 4
7 Trace Elements Phase 4
8
Eliglustat Approved Phase 3,Phase 2 491833-29-5 23652731
9
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
13 Alkylating Agents Phase 2, Phase 3
14 Antilymphocyte Serum Phase 2, Phase 3
15 Antineoplastic Agents, Alkylating Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Methylprednisolone acetate Phase 2, Phase 3
19 Methylprednisolone Hemisuccinate Phase 2, Phase 3
20 Prednisolone acetate Phase 2, Phase 3
21 Prednisolone hemisuccinate Phase 2, Phase 3
22 Prednisolone phosphate Phase 2, Phase 3
23
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
24
Ambroxol Approved Phase 1, Phase 2 18683-91-5
25
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
26 Antidotes Phase 2
27 Anti-Infective Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Antioxidants Phase 2
30 Antiviral Agents Phase 2
31 Expectorants Phase 2,Phase 1
32 N-monoacetylcystine Phase 2
33 Protective Agents Phase 2
34 Respiratory System Agents Phase 2,Phase 1
35
Imidacloprid 105827-78-9 86418
36 Interferon-gamma
37 interferons
38 Antibodies
39 Autoantibodies
40 Immunoglobulins

Interventional clinical trials:

(show all 38)
id Name Status NCT ID Phase
1 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
2 Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years Recruiting NCT02574286 Phase 4
3 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3
4 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
5 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3
6 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
7 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
8 Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3
9 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
10 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
11 Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3
12 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3
13 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
14 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2
15 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896 Phase 2
16 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2
17 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 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 Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Completed NCT00391625 Phase 1, Phase 2
20 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2
21 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2
22 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2
23 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2
24 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1
25 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
26 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
27 A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101 Terminated NCT00875160 Phase 1
28 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
29 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
30 Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease Completed NCT00244582
31 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
32 A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease Completed NCT00465062
33 Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease Completed NCT00351156
34 Auto-antibodies Prevalence and CD1 Role in Gaucher Disease Completed NCT02650219
35 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
36 SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease Recruiting NCT02605603
37 Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study Recruiting NCT02437396
38 Investigating Lysosomal Storage Diseases in Minority Groups Recruiting NCT02120235

Search NIH Clinical Center for Gaucher Disease, Type Ii

Genetic Tests for Gaucher Disease, Type Ii

Genetic tests related to Gaucher Disease, Type Ii:

id Genetic test Affiliating Genes
1 Acute Neuronopathic Gaucher's Disease 29
2 Gaucher Disease Type 2 (acute) 24

Anatomical Context for Gaucher Disease, Type Ii

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

39
Liver, Lung, Bone, Bone Marrow, Brain, Spleen, Eye

Publications for Gaucher Disease, Type Ii

Variations for Gaucher Disease, Type Ii

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

66
id Symbol AA change Variation ID SNP ID
1 GBA p.Leu483Pro VAR_003321 rs421016
2 GBA p.Glu80Lys VAR_009033 rs1141808
3 GBA p.Arg170Cys VAR_009035 rs398123530
4 GBA p.Asp513Tyr VAR_009050

ClinVar genetic disease variations for Gaucher Disease, Type Ii:

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.1361C> G (p.Pro454Arg) single nucleotide variant Pathogenic rs121908295 GRCh37 Chromosome 1, 155205499: 155205499
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.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
5 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
6 GBA NM_000157.3(GBA): c.27+1G> A single nucleotide variant Pathogenic rs80356759 GRCh37 Chromosome 1, 155210876: 155210876
7 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
8 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908305 GRCh37 Chromosome 1, 155206170: 155206170
9 GBA NM_001005741.2(GBA): c.1141T> G (p.Cys381Gly) single nucleotide variant Pathogenic rs121908306 GRCh37 Chromosome 1, 155206119: 155206119

Expression for Gaucher Disease, Type Ii

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

Pathways for Gaucher Disease, Type Ii

Pathways related to Gaucher Disease, Type Ii 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 Ii

Cellular components related to Gaucher Disease, Type Ii 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 Ii 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 Ii

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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