GD 3
MCID: GCH005
MIFTS: 30

Gaucher Disease Type 3 (GD 3) malady

Neuronal, Eye, Respiratory, Metabolic categories

Summaries for Gaucher Disease Type 3

Sources:
47OMIM, 33MalaCards
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MalaCards: Gaucher Disease Type 3, also known as gaucher disease, subacute neuronopathic type, is related to gaucher's disease and fucosidosis, and has symptoms including hypertonia/spasticity/rigidity/stiffness, seizures/epilepsy/absences/spasms/status epilepticus and failure to thrive/difficulties for feeding in infancy/growth delay. 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.

Description from OMIM:47 231000

Aliases & Classifications for Gaucher Disease Type 3

Sources:
64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Respiratory, Metabolic


Characteristics (Orphanet epidemiological data):

49
gaucher disease, subacute neuronopathic type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

gaucher disease type 3 64 43 49
gaucher disease, subacute neuronopathic type 43 22 49
type 3 gaucher disease 64 20 45
cerebral juvenile and adult form of gaucher disease 49
gaucher disease, juvenile and adult, cerebral 43
gaucher disease, chronic neuronopathic type 43
subacute neuronopathic gaucher disease 64
chronic neuronopathic gaucher disease 49
norrbottnian gaucher disease 64
gaucher disease, type iii 47
gaucher disease, type 3 61
gd 3 43


External Ids:

OMIM47 231000
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 5963005
UMLS via Orphanet62 C0268251

Related Diseases for Gaucher Disease Type 3

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



Diseases related to gaucher disease type 3

Clinical Features for Gaucher Disease Type 3

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

231000

Clinical synopsis from OMIM:

231000

Symptoms:

49 (show all 34)
  • hypertonia/spasticity/rigidity/stiffness
  • 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
  • mutiple fractures/bone fragility
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • pulmonary hypertension
  • myocardium anomalies/myocarditis
  • hematuria/microhematuria
  • osteolysis/osteoclasia/bone destruction/erosions
  • hydrops fetalis
  • 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

Drugs & Therapeutics for Gaucher Disease Type 3

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

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

Sources:
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

Animal Models for Gaucher Disease Type 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Gaucher Disease Type 3

Genetic Variations for Gaucher Disease Type 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Gaucher Disease Type 3:

63
id Symbol AA change Variation SNP ID
1GBAp.Val437LeuVAR_010070
2GBAp.Thr530IleVAR_010075

Expression for genes affiliated with Gaucher Disease Type 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Gaucher Disease Type 3

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

Compounds related to Gaucher Disease Type 3 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 3

Products for genes affiliated with Gaucher Disease Type 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 3

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