GD 1
MCID: GCH003
MIFTS: 46

Gaucher Disease Type 1 (GD 1) malady

Neuronal diseases category

Summaries for Gaucher Disease Type 1

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Gaucher disease type 1, also called non-neuronopathic gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of gaucher disease. the features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  the condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. gaucher disease is caused by mutations in the gba gene and is inherited in an autosomal recessive pattern. last updated: 2/9/2011

MalaCards: Gaucher Disease Type 1, also known as acid beta-glucosidase deficiency, is related to gaucher's disease and gaucher disease type 2. An important gene associated with Gaucher Disease Type 1 is GBA (glucosidase, beta, acid). The compounds miglustat and polysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone, spleen and brain.

Description from OMIM:46 230800

Aliases & Classifications for Gaucher Disease Type 1

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63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

gaucher disease type 1 63 42 20 22
acid beta-glucosidase deficiency 63 42
gaucher disease, type i 46 44
gba deficiency 63 42
gaucher disease, noncerebral juvenile 42
non-neuronopathic gaucher disease 63
glucocerebrosidase deficiency 42
gaucher disease, type 1 60
type 1 gaucher disease 44
gd 1 42


Related Diseases for Gaucher Disease Type 1

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Gaucher Disease Type 1:



Diseases related to gaucher disease type 1

Clinical Features for Gaucher Disease Type 1

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46OMIM
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Clinical features from OMIM:

230800

Clinical synopsis from OMIM:

230800

Drugs & Therapeutics for Gaucher Disease Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Gaucher Disease Type 1

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20GeneTests, 22GTR
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Genetic tests related to Gaucher Disease Type 1:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 120
2 Gaucher's Disease, Type 122

Anatomical Context for Gaucher Disease Type 1

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32MalaCards
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MalaCards organs/tissues related to Gaucher Disease Type 1:

32
Bone, Spleen, Brain, Liver, Lung, Spinal cord, Bone marrow

Animal Models for Gaucher Disease Type 1 or affiliated genes

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Publications for Gaucher Disease Type 1

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50PubMed
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Articles related to Gaucher Disease Type 1:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease. (24195576)
2013
2
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene. (23430552)
2013
3
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. (23339116)
2013
4
Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. (22692814)
2012
5
Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. (20684885)
2011
6
Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia. (21883686)
2011
7
Velaglucerase alfa in the treatment of Gaucher disease type 1. (21927713)
2011
8
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype. (20425796)
2010
9
Anesthetic management in a pregnant woman with type 1 Gaucher disease]. (20499804)
2010
10
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. (20439622)
2010
11
Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease. (20336596)
2010
12
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. (20713962)
2010
13
Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease. (20419464)
2010
14
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review. (20629148)
2010
15
Hyperferritinemia and iron overload in type 1 Gaucher disease. (20575041)
2010
16
Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease. (20110029)
2009
17
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. (19265748)
2009
18
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. (19732054)
2009
19
Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. (19047232)
2008
20
Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention. (18155675)
2008
21
Attitudes of couples identified through screening as carriers of Gaucher disease type 1. (18651845)
2008
22
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. (16996765)
2007
23
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. (17919546)
2007
24
Radiology of Gaucher disease (type 1) and bone manifestations: the Dutch experience. (17274590)
2006
25
Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease. (16835986)
2006
26
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. (15468046)
2004
27
Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. (12803929)
2003
28
Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease. (11814307)
2002
29
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. (11241475)
2001
30
Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. (11345203)
2001
31
Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. (10804944)
2000
32
Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
1999
33
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta- glucosidase mutation. (10340647)
1999
34
Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement. (10197233)
1998
35
Coexistence of Gaucher disease type 1 and Joubert syndrome. (9832051)
1998
36
First long-term results of imiglucerase therapy of type 1 Gaucher disease. (9512964)
1998
37
Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. (9541479)
1998
38
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient. (9028460)
1997
39
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. (9207436)
1997
40
Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease. (9316550)
1997
41
Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. (9236158)
1997
42
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non- Jewish patients. (9153297)
1997
43
Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome. (8967670)
1996
44
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. (8889591)
1996
45
Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. (8741312)
1996
46
Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease. (7980395)
1994
47
A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient. (7915932)
1994
48
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease. (8450045)
1993
49
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. (2495719)
1989
50
Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase. (3921758)
1985

Genetic Variations for Gaucher Disease Type 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Gaucher Disease Type 1:

62 (show all 143)
id Symbol AA change Variation ID SNP ID
1GBAp.Val54LeuVAR_003255
2GBAp.Phe76ValVAR_003256
3GBAp.Thr82IleVAR_003257
4GBAp.Gly85GluVAR_003258
5GBAp.Arg87TrpVAR_003259rs1141814
6GBAp.Lys118AsnVAR_003260
7GBAp.Gly152GluVAR_003261
8GBAp.Ile158ThrVAR_003262
9GBAp.Arg159GlnVAR_003263
10GBAp.Arg159TrpVAR_003264
11GBAp.Pro161SerVAR_003265
12GBAp.Thr173ProVAR_003266
13GBAp.Asp179HisVAR_003267
14GBAp.Lys196GlnVAR_003268
15GBAp.Arg209ProVAR_003269
16GBAp.Ala215AspVAR_003270
17GBAp.Pro217SerVAR_003271
18GBAp.Pro221ThrVAR_003272
19GBAp.Trp223ArgVAR_003273
20GBAp.Asn227SerVAR_003274rs364897
21GBAp.Asn227LysVAR_003275rs381418
22GBAp.Val230GlyVAR_003276rs381427
23GBAp.Gly234GluVAR_003277
24GBAp.Ser235ProVAR_003278rs1064644
25GBAp.Gly241ArgVAR_003279
26GBAp.Tyr251HisVAR_003280
27GBAp.Phe252IleVAR_003281rs381737
28GBAp.Phe255TyrVAR_003282
29GBAp.Ser276ProVAR_003283
30GBAp.Arg296GlnVAR_003284
31GBAp.Pro305ArgVAR_003285
32GBAp.Arg324CysVAR_003286
33GBAp.Pro328LeuVAR_003287
34GBAp.Lys342IleVAR_003288
35GBAp.Ala348ValVAR_003289
36GBAp.Trp351CysVAR_003290
37GBAp.Tyr352HisVAR_003291
38GBAp.Asp354HisVAR_003292
39GBAp.Ala357AspVAR_003293
40GBAp.Thr362IleVAR_003294
41GBAp.Leu363ProVAR_003295
42GBAp.Gly364ArgVAR_003296
43GBAp.Glu365LysVAR_003297rs2230288
44GBAp.Cys381GlyVAR_003298
45GBAp.Arg398GlnVAR_003299
46GBAp.Ser403ThrVAR_003300
47GBAp.Thr408MetVAR_003301rs2230289
48GBAp.Asn409SerVAR_003302rs76763715
49GBAp.Gly416SerVAR_003303
50GBAp.Trp417GlyVAR_003304
51GBAp.Asp419AlaVAR_003305
52GBAp.Asp419AsnVAR_003306
53GBAp.Gly428GluVAR_003307
54GBAp.Pro430LeuVAR_003308
55GBAp.Asn431IleVAR_003309
56GBAp.Val433LeuVAR_003310
57GBAp.Asn435ThrVAR_003311
58GBAp.Asp438AsnVAR_003312
59GBAp.Asp448HisVAR_003313rs1064651
60GBAp.Asp448ValVAR_003314
61GBAp.Tyr451HisVAR_003315
62GBAp.Pro454ArgVAR_003316
63GBAp.Phe456ValVAR_003317
64GBAp.Tyr457CysVAR_003318
65GBAp.Lys464GluVAR_003319
66GBAp.Leu483ArgVAR_003320
67GBAp.Leu483ProVAR_003321
68GBAp.Ala485ProVAR_003322
69GBAp.Ala495ProVAR_003323rs368060
70GBAp.Arg502CysVAR_003324
71GBAp.Gly517SerVAR_003326
72GBAp.Arg535CysVAR_003327
73GBAp.Arg535HisVAR_003328
74GBAp.Ser146LeuVAR_009034
75GBAp.Arg170CysVAR_009035
76GBAp.Arg170LeuVAR_009036
77GBAp.Pro198LeuVAR_009037
78GBAp.Ala229GluVAR_009038
79GBAp.Gly234TrpVAR_009039
80GBAp.His294GlnVAR_009040
81GBAp.Phe298LeuVAR_009041
82GBAp.Arg324HisVAR_009042
83GBAp.Tyr343CysVAR_009043
84GBAp.Ala380ThrVAR_009045
85GBAp.Ser405AsnVAR_009046
86GBAp.Trp432ArgVAR_009047
87GBAp.Asn501LysVAR_009049
88GBAp.Ile200SerVAR_010059
89GBAp.Gly228ValVAR_010060
90GBAp.Gly241GluVAR_010061
91GBAp.Tyr244CysVAR_010062
92GBAp.Gly304AspVAR_010063
93GBAp.Ser310AsnVAR_010064
94GBAp.Val391LeuVAR_010065
95GBAp.Arg392GlyVAR_010066
96GBAp.Ser405GlyVAR_010067
97GBAp.Val414LeuVAR_010068
98GBAp.Pro426LeuVAR_010069
99GBAp.Pro440LeuVAR_010071
100GBAp.Ile441ThrVAR_010072
101GBAp.Phe450IleVAR_010073
102GBAp.Lys452GlnVAR_010074
103GBAp.Arg87GlnVAR_032197
104GBAp.Pro161LeuVAR_032198
105GBAp.Met162ValVAR_032199
106GBAp.Asp166ValVAR_032200
107GBAp.Ile200AsnVAR_032201
108GBAp.Leu213PheVAR_032202
109GBAp.Leu224PheVAR_032203
110GBAp.Gly232GluVAR_032204
111GBAp.Lys237GluVAR_032205
112GBAp.Leu303IleVAR_032206
113GBAp.Glu388LysVAR_032207
114GBAp.Arg392TrpVAR_032208
115GBAp.Tyr402CysVAR_032209
116GBAp.Leu410ValVAR_032210
117GBAp.Asp419HisVAR_032211
118GBAp.Asn421LysVAR_032212
119GBAp.Gly429ArgVAR_032213
120GBAp.Phe436SerVAR_032214
121GBAp.Met455ValVAR_032215
122GBAp.Leu500ProVAR_032216
123GBAp.Arg502ProVAR_032217
124GBAp.Cys55SerVAR_032394
125GBAp.Asp63AsnVAR_032395
126GBAp.Ala129ThrVAR_032397
127GBAp.Asn156AspVAR_032398
128GBAp.Ile158SerVAR_032399
129GBAp.Thr173IleVAR_032400
130GBAp.Ala175GluVAR_032401
131GBAp.Pro198ThrVAR_032402
132GBAp.His201ProVAR_032403
133GBAp.Arg209CysVAR_032404
134GBAp.Pro221LeuVAR_032405
135GBAp.Ala229ThrVAR_032406
136GBAp.Val230GluVAR_032407
137GBAp.Thr270ArgVAR_032408
138GBAp.Phe290LeuVAR_032409
139GBAp.Met400IleVAR_032412rs149487315
140GBAp.Asp438TyrVAR_032413
141GBAp.Ile441PheVAR_032414
142GBAp.Gly460AspVAR_032415
143GBAp.His490ArgVAR_032416

Expression for genes affiliated with Gaucher Disease Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gaucher Disease Type 1

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Pathways for genes affiliated with Gaucher Disease Type 1

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Compounds for genes affiliated with Gaucher Disease Type 1

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Gaucher Disease Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1miglustat44 1110.1GBA, CHIT1
2polysaccharide449.1GBA, CHIT1
3glucosylceramide44 2410.0GBA, CHIT1
4mannose448.8GBA, CHIT1

GO Terms for genes affiliated with Gaucher Disease Type 1

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Products for genes affiliated with Gaucher Disease Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet