GD 1
MCID: GCH003
MIFTS: 30

Gaucher Disease Type 1 (GD 1) malady

Neuronal category

Summaries for Gaucher Disease Type 1

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 splenomegaly. 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 spleen, brain and spinal cord.

Description from OMIM:47 230800

Aliases & Classifications for Gaucher Disease Type 1

Sources:
64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

gaucher disease type 1 64 43 20 22
acid beta-glucosidase deficiency 64 43
gaucher disease, type i 47 45
gba deficiency 64 43
gaucher disease, noncerebral juvenile 43
non-neuronopathic gaucher disease 64
glucocerebrosidase deficiency 43
gaucher disease, type 1 61
type 1 gaucher disease 45
gd 1 43


Related Diseases for Gaucher Disease Type 1

Sources:
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

230800

Clinical synopsis from OMIM:

230800

Drugs & Therapeutics for Gaucher Disease Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Gaucher Disease Type 1

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Type 1

Search NIH Clinical Center for Gaucher Disease Type 1

Search CenterWatch for Gaucher Disease Type 1

Genetic Tests for Gaucher Disease Type 1

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Gaucher Disease Type 1:

33
Spleen, Brain, Spinal cord, Liver, Lung

Animal Models for Gaucher Disease Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Gaucher Disease Type 1

Sources:
51PubMed
See all sources

Articles related to Gaucher Disease Type 1:

idTitleAuthorsYear
1
Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1. (23828321)
2013
2
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. (20439622)
2010
3
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
4
Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. (17499484)
2007

Genetic Variations for Gaucher Disease Type 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Gaucher Disease Type 1:

63 (show all 143)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gaucher Disease Type 1

Search GEO for disease gene expression data for Gaucher Disease Type 1.

Pathways for genes affiliated with Gaucher Disease Type 1

Compounds for genes affiliated with Gaucher Disease Type 1

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Gaucher Disease Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1miglustat45 1110.1GBA, CHIT1
2polysaccharide459.1GBA, CHIT1
3glucosylceramide45 2410.0GBA, CHIT1
4mannose458.8GBA, CHIT1

GO Terms for genes affiliated with Gaucher Disease Type 1

Products for genes affiliated with Gaucher Disease Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet