GD 2
MCID: GCH004
MIFTS: 28

Gaucher Disease Type 2 (GD 2) malady

Neuronal, Eye, Respiratory, Metabolic categories

Summaries for Gaucher Disease Type 2

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. liver and spleen enlargement are often apparent by 3 months of age. patients typically develop extensive and progressive brain damage and many die by 2 years of age. gaucher disease type 2 is caused by mutations in the gba gene. it is inherited in an autosomal recessive pattern. while enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition. last updated: 2/22/2010

MalaCards: Gaucher Disease Type 2, also known as type 2 gaucher disease, is related to gaucher disease type 3 and pseudo-gaucher disease, and has symptoms including hypertonia/spasticity/rigidity/stiffness, seizures/epilepsy/absences/spasms/status epilepticus and abnormal eye movements/oculomotor disorder. An important gene associated with Gaucher Disease Type 2 is GBA (glucosidase, beta, acid). Affiliated tissues include liver, brain and lung.

Description from OMIM:47 230900

Aliases & Classifications for Gaucher Disease Type 2

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

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


Characteristics (Orphanet epidemiological data):

49
gaucher disease type 2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

gaucher disease type 2 64 43 49
type 2 gaucher disease 64 20 45
gaucher disease, acute neuronopathic type 43 22
gaucher disease, type ii 47 45
infantile cerebral gaucher's disease 64
gaucher disease, infantile cerebral 43
acute neuronopathic gaucher disease 49
infantile cerebral gaucher disease 49
acute cerebral gaucher's disease 64
infantile gaucher disease 64
gaucher disease, type 2 61
gd 2 43


External Ids:

OMIM47 230900
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 12246008
UMLS via Orphanet62 C0268250

Related Diseases for Gaucher Disease Type 2

Sources:
17GeneCards, 18GeneDecks
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Diseases in the gaucher's disease family:

gaucher disease type 1 gaucher disease type 2
pseudo-gaucher disease gaucher disease type 3
gaucher disease, type iiic

Diseases related to Gaucher Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease type 310.2
2pseudo-gaucher disease10.2
3hydrops fetalis10.2

Clinical Features for Gaucher Disease Type 2

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

230900

Clinical synopsis from OMIM:

230900

Symptoms:

49 (show all 15)
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • abnormal eye movements/oculomotor disorder
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • early death/lethality
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • repeat respiratory infections
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • strabismus/squint
  • cough
  • respiratory rhythm disorder
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy

Drugs & Therapeutics for Gaucher Disease Type 2

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

Approved drugs:

Search CenterWatch for Gaucher Disease Type 2

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Type 2

Search NIH Clinical Center for Gaucher Disease Type 2

Search CenterWatch for Gaucher Disease Type 2

Genetic Tests for Gaucher Disease Type 2

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Gaucher Disease Type 2:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 2 (acute)20
2 Acute Neuronopathic Gaucher's Disease22

Anatomical Context for Gaucher Disease Type 2

Sources:
33MalaCards
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MalaCards organs/tissues related to Gaucher Disease Type 2:

33
Liver, Brain, Lung, Spleen, Bone marrow

Animal Models for Gaucher Disease Type 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Gaucher Disease Type 2

Sources:
51PubMed
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Articles related to Gaucher Disease Type 2:

idTitleAuthorsYear
1
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient. (9295080)
1997

Genetic Variations for Gaucher Disease Type 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Gaucher Disease Type 2:

63
id Symbol AA change Variation SNP ID
1GBAp.Leu483ProVAR_003321
2GBAp.Glu80LysVAR_009033rs1141808
3GBAp.Arg170CysVAR_009035
4GBAp.Asp513TyrVAR_009050

Expression for genes affiliated with Gaucher Disease Type 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gaucher Disease Type 2

Search GEO for disease gene expression data for Gaucher Disease Type 2.

Pathways for genes affiliated with Gaucher Disease Type 2

Compounds for genes affiliated with Gaucher Disease Type 2

GO Terms for genes affiliated with Gaucher Disease Type 2

Products for genes affiliated with Gaucher Disease Type 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 2

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