GD 3
MCID: GCH005
MIFTS: 46

Gaucher Disease Type 3 (GD 3) malady

Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases categories

Summaries for Gaucher Disease Type 3

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46OMIM, 32MalaCards
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MalaCards: Gaucher Disease Type 3, also known as gaucher disease, subacute neuronopathic type, is related to gaucher disease type 1 and gaucher's disease, and has symptoms including hydrops fetalis, osteolysis/osteoclasia/bone destruction/erosions and hematuria/microhematuria. An important gene associated with Gaucher Disease Type 3 is GBA (glucosidase, beta, acid). The compounds miglustat and polysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and bone marrow.

Description from OMIM:46 231000

Aliases & Classifications for Gaucher Disease Type 3

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63Wikipedia, 42NIH Rare Diseases, 48Orphanet, 20GeneTests, 44Novoseek, 22GTR, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
gaucher disease, subacute neuronopathic type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

gaucher disease type 3 63 42 48
gaucher disease, subacute neuronopathic type 42 22 48
type 3 gaucher disease 63 20 44
cerebral juvenile and adult form of gaucher disease 48
gaucher disease, juvenile and adult, cerebral 42
gaucher disease, chronic neuronopathic type 42
subacute neuronopathic gaucher disease 63
chronic neuronopathic gaucher disease 48
norrbottnian gaucher disease 63
gaucher disease, type iii 46
gaucher disease, type 3 60
gd 3 42


External Ids:

OMIM46 231000
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 5963005
UMLS via Orphanet61 C0268251

Related Diseases for Gaucher Disease Type 3

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Gaucher Disease Type 3:



Diseases related to gaucher disease type 3

Clinical Features for Gaucher Disease Type 3

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46OMIM, 48Orphanet
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Clinical features from OMIM:

231000

Clinical synopsis from OMIM:

231000

Symptoms:

48 (show all 34)
  • hydrops fetalis
  • osteolysis/osteoclasia/bone destruction/erosions
  • hematuria/microhematuria
  • myocardium anomalies/myocarditis
  • pulmonary hypertension
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • thrombocytopenia/thrombopenia
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • bone pain
  • hypergammaglobulinemia
  • bone marrow failure/pancytopenia
  • leukopenia/hypoleukocytosis
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • mutiple fractures/bone fragility
  • seizures/epilepsy/absences/spasms/status epilepticus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • abnormal eye movements/oculomotor disorder
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • psychic/psychomotor regression/dementia/intellectual decline
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • delayed bone age
  • repeat respiratory infections
  • osteonecrosis/bone infarction
  • proteinuria
  • asthenia/fatigue/weakness
  • anaemia
  • osteosclerosis/osteopetrosis/bone condensation
  • cardiac valvulopathy
  • strabismus/squint
  • hypertonia/spasticity/rigidity/stiffness

Drugs & Therapeutics for Gaucher Disease Type 3

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

Search CenterWatch for Gaucher Disease Type 3

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Type 3

Search NIH Clinical Center for Gaucher Disease Type 3

Search CenterWatch for Gaucher Disease Type 3

Genetic Tests for Gaucher Disease Type 3

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20GeneTests, 22GTR
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Genetic tests related to Gaucher Disease Type 3:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 3 (subacute/chronic)20
2 Subacute Neuronopathic Gaucher's Disease22

Anatomical Context for Gaucher Disease Type 3

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32MalaCards
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MalaCards organs/tissues related to Gaucher Disease Type 3:

32
Bone, Eye, Bone marrow, Liver

Animal Models for Gaucher Disease Type 3 or affiliated genes

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Publications for Gaucher Disease Type 3

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50PubMed
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Articles related to Gaucher Disease Type 3:

(show all 14)
idTitleAuthorsYear
1
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
2
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. (18347322)
2008
3
Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients. (17689991)
2007
4
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. (17433057)
2007
5
High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients. (16981045)
2006
6
Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. (16497642)
2006
7
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. (14678774)
2003
8
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. (11600137)
2001
9
Audiometric abnormalities in children with Gaucher disease type 3. (11521209)
2001
10
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (10796875)
2000
11
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. (9482915)
1998
12
Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease. (9382912)
1997
13
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. (8780099)
1996
14
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. (4003396)
1985

Genetic Variations for Gaucher Disease Type 3

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Gaucher Disease Type 3:

62
id Symbol AA change Variation ID SNP ID
1GBAp.Val437LeuVAR_010070
2GBAp.Thr530IleVAR_010075

Expression for genes affiliated with Gaucher Disease Type 3

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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 3

Search GEO for disease gene expression data for Gaucher Disease Type 3.

Pathways for genes affiliated with Gaucher Disease Type 3

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Compounds for genes affiliated with Gaucher Disease Type 3

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Gaucher Disease Type 3 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 3

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Products for genes affiliated with Gaucher Disease Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 3

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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