MCID: GCH017
MIFTS: 47

Gaucher Disease, Type Iii

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

Aliases & Classifications for Gaucher Disease, Type Iii

MalaCards integrated aliases for Gaucher Disease, Type Iii:

Name: Gaucher Disease, Type Iii 53 13 37
Gaucher Disease, Subacute Neuronopathic Type 53 12 49 55
Gaucher Disease, Juvenile and Adult, Cerebral 53 12 49
Gaucher Disease, Chronic Neuronopathic Type 53 12 49
Gaucher Disease Type 3 72 49 55
Gd Iii 53 12 71
Cerebral Juvenile and Adult Form of Gaucher Disease 55
Cerebral, Juvenile and Adult, Gaucher Disease 71
Gaucher Disease Chronic Neuronopathic Type 71
Subacute Neuronopathic Gaucher's Disease 28
Subacute Neuronopathic Gaucher Disease 71
Chronic Neuronopathic Gaucher Disease 55
Gaucher's Disease Type Iii 12
Gaucher Disease Type Ii 71
Gaucher Disease, Type 2 69
Gaucher Disease, Type 3 69
Type 3 Gaucher Disease 51
Gaucher Disease 3 71
Gd 3 49
Gd3 71

Characteristics:

Orphanet epidemiological data:

55
gaucher disease type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
adult onset has been reported
onset usually in childhood (range infancy to late childhood)
subtype 3a comprises myoclonus and dementia
subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
subtype 3c comprises cardiovascular calcifications


HPO:

31
gaucher disease, type iii:
Onset and clinical course adult onset phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type Iii

OMIM : 53 Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. Patterson et al. (1993) suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (231005), which is associated with cardiovascular calcifications. (231000)

MalaCards based summary : Gaucher Disease, Type Iii, also known as gaucher disease, subacute neuronopathic type, is related to gaucher disease, type ii and gaucher's disease, 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 Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Gaucher disease.

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.

Wikipedia : 72 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside... more...

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 30)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type ii 32.9 GBA PSAP
2 gaucher's disease 30.8 GBA PSAP
3 ocular motor apraxia 11.1
4 gaucher disease, type iiic 11.0
5 melanoma 10.3
6 glioblastoma 10.1
7 protein-losing enteropathy 10.0
8 neuroblastoma 10.0
9 neuronitis 10.0
10 lymphosarcoma 10.0
11 breast cancer 9.8
12 lung cancer 9.8
13 leukemia 9.8
14 miller fisher syndrome 9.8
15 hypoxia 9.8
16 endotheliitis 9.8
17 aspartylglucosaminuria 9.8
18 fucosidosis 9.8
19 metachromatic leukodystrophy 9.8
20 adrenoleukodystrophy 9.8
21 mannosidosis 9.8
22 leukodystrophy 9.8
23 central nervous system disease 9.8
24 nervous system disease 9.8
25 multiple mitochondrial dysfunctions syndrome 5 9.7
26 prostatitis 9.7
27 gaucher disease, type i 9.7 GBA PSAP
28 sphingolipidosis 9.6 GBA PSAP
29 lipid storage disease 9.6 GBA PSAP
30 niemann-pick disease 9.4 GBA PSAP

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
spastic paraparesis
delayed motor development
subacute neurologic deterioration
more
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Head And Neck Eyes:
squint
abnormal eye movements
abnormal saccades
supranuclear gaze palsy, horizontal (type iiib)
vertical ocular movements are usually preserved

Laboratory Abnormalities:
decreased beta-glucocerebrosidase protein and activity

Neurologic Behavioral Psychiatric Manifestations:
depression

Abdomen Liver:
hepatomegaly

Hematology:
pancytopenia
thrombocytopenia
gaucher cells in bone marrow

Growth Weight:
decreased weight


Clinical features from OMIM:

231000

Human phenotypes related to Gaucher Disease, Type Iii:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000602
4 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
5 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
6 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
7 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
8 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
10 aseptic necrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010885
11 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
12 delayed puberty 55 31 frequent (33%) Frequent (79-30%) HP:0000823
13 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
14 pancytopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001876
15 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
16 generalized myoclonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002123
17 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
18 hydrops fetalis 55 31 frequent (33%) Frequent (79-30%) HP:0001789
19 thrombocytopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001873
20 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
21 mitral valve calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0004382
22 dementia 55 31 frequent (33%) Frequent (79-30%) HP:0000726
23 increased bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0011001
24 osteolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002797
25 encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001298
26 aortic valve calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0004380
27 increased antibody level in blood 55 31 frequent (33%) Frequent (79-30%) HP:0010702
28 interstitial pulmonary abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0006530
29 increased susceptibility to fractures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002659
30 pericardial effusion 55 31 occasional (7.5%) Occasional (29-5%) HP:0001698
31 myoclonus 31 HP:0001336
32 neurological speech impairment 31 HP:0002167
33 short stature 31 HP:0004322
34 abnormality of the heart valves 55 Occasional (29-5%)
35 growth delay 55 Frequent (79-30%)
36 abnormality of the myocardium 55 Occasional (29-5%)
37 decreased body weight 31 HP:0004325
38 motor delay 31 HP:0001270
39 horizontal supranuclear gaze palsy 31 HP:0007817
40 spastic paraparesis 31 HP:0002313
41 progressive neurologic deterioration 31 HP:0002344
42 decreased beta-glucocerebrosidase protein and activity 31 HP:0003656
43 depressivity 31 HP:0000716
44 vascular calcification 31 HP:0004934
45 abnormal myocardium morphology 31 occasional (7.5%) HP:0001637

UMLS symptoms related to Gaucher Disease, Type Iii:


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

Drugs & Therapeutics for Gaucher Disease, Type Iii

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 2 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 2 19130-96-2 1374
3 Anti-HIV Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Anti-Retroviral Agents Phase 2
6 Antiviral Agents Phase 2
7 Cardiac Glycosides Phase 2
8 Glycoside Hydrolase Inhibitors Phase 2
9 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
2 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
3 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
4 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
5 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
6 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
7 Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease Completed NCT00244582
8 Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease Completed NCT00351156

Search NIH Clinical Center for Gaucher Disease, Type Iii

Genetic Tests for Gaucher Disease, Type Iii

Genetic tests related to Gaucher Disease, Type Iii:

# Genetic test Affiliating Genes
1 Subacute Neuronopathic Gaucher's Disease 28 GBA

Anatomical Context for Gaucher Disease, Type Iii

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

38
Bone, Bone Marrow, Lung, Brain, Kidney, Liver, Spleen

Publications for Gaucher Disease, Type Iii

Articles related to Gaucher Disease, Type Iii:

# 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:

71
# 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 (show all 11)
# 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.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
3 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
4 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
5 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
6 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
7 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
8 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
9 GBA NM_001005741.2(GBA): c.1174C> G (p.Arg392Gly) single nucleotide variant Pathogenic rs121908308 GRCh37 Chromosome 1, 155206086: 155206086
10 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
11 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:

# 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:

# 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:

# 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
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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