GD 2
MCID: GCH004
MIFTS: 42

Gaucher Disease Type 2 (GD 2) malady

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

Summaries for Gaucher Disease Type 2

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 1 and neuronitis, and has symptoms including collapse/sudden death/cardiac arrest/cardiorespiratory arrest, contractures/cramps/trismus/tetania/claudication/opisthotonos and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Gaucher Disease Type 2 is GBA (glucosidase, beta, acid). Affiliated tissues include liver, lung and brain.

Description from OMIM:46 230900

Aliases & Classifications for Gaucher Disease Type 2

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Sources:
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 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 63 42 48
type 2 gaucher disease 63 20 44
gaucher disease, acute neuronopathic type 42 22
gaucher disease, type ii 46 44
infantile cerebral gaucher's disease 63
gaucher disease, infantile cerebral 42
acute neuronopathic gaucher disease 48
infantile cerebral gaucher disease 48
acute cerebral gaucher's disease 63
infantile gaucher disease 63
gaucher disease, type 2 60
gd 2 42


External Ids:

OMIM46 230900
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 12246008
UMLS via Orphanet61 C0268250

Related Diseases for Gaucher Disease Type 2

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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 110.3
2neuronitis10.1
3cholestasis10.1
4osteomyelitis10.1
5neuroblastoma10.0

Graphical network of diseases related to Gaucher Disease Type 2:



Diseases related to gaucher disease type 2

Clinical Features for Gaucher Disease Type 2

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46OMIM, 48Orphanet
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Clinical features from OMIM:

230900

Clinical synopsis from OMIM:

230900

Symptoms:

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

Drugs & Therapeutics for Gaucher Disease Type 2

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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 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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Gaucher Disease Type 2:

32
Liver, Lung, Brain, Spleen, Bone, Bone marrow, Eye

Animal Models for Gaucher Disease Type 2 or affiliated genes

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Publications for Gaucher Disease Type 2

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50PubMed
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Articles related to Gaucher Disease Type 2:

(show all 31)
idTitleAuthorsYear
1
Pathological fracture and pyogenic osteomyelitis in a patient with type 2 Gaucher disease. (24412634)
2014
2
Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease. (23430923)
2012
3
Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions. (21889374)
2011
4
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. (20439622)
2010
5
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
6
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. (19195916)
2009
7
Type 2 Gaucher disease: 15 new cases and review of the literature. (16485335)
2006
8
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. (15967693)
2005
9
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression. (15954102)
2005
10
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. (15214004)
2004
11
Global gene expression in a type 2 Gaucher disease brain. (15589115)
2004
12
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. (14678774)
2003
13
Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease. (12845529)
2003
14
Type 2 Gaucher disease: the collodion baby phenotype revisited. (10685993)
2000
15
Novel point mutation (W184R) in neonatal type 2 Gaucher disease. (10679038)
2000
16
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. (10926300)
2000
17
Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making. (11358352)
2000
18
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (10649495)
2000
19
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (10352942)
1999
20
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. (10079102)
1999
21
Type 2 Gaucher disease: an expanding phenotype. (10527671)
1999
22
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. (9635296)
1998
23
A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. (9851895)
1998
24
Enzyme therapy in Gaucher disease type 2: an autopsy case. (10223617)
1998
25
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. (9482915)
1998
26
Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. (9637431)
1998
27
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non- Jewish patients. (9153297)
1997
28
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. (7627192)
1995
29
Pathological findings in Gaucher disease type 2 patients following enzyme therapy. (7672788)
1995
30
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. (2495719)
1989
31
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 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Gaucher Disease Type 2:

62
id Symbol AA change Variation ID SNP ID
1GBAp.Leu483ProVAR_003321
2GBAp.Glu80LysVAR_009033rs1141808
3GBAp.Arg170CysVAR_009035
4GBAp.Asp513TyrVAR_009050

Expression for genes affiliated with Gaucher Disease Type 2

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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 2

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

Pathways for genes affiliated with Gaucher Disease Type 2

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Compounds for genes affiliated with Gaucher Disease Type 2

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GO Terms for genes affiliated with Gaucher Disease Type 2

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Products for genes affiliated with Gaucher Disease Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 2

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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