MCID: GCH016
MIFTS: 45

Gaucher Disease, Type Ii

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases

Aliases & Classifications for Gaucher Disease, Type Ii

MalaCards integrated aliases for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 53 13 51 37
Gaucher Disease, Acute Neuronopathic Type 53 12 49
Gaucher Disease Type 2 72 49 55
Gd Ii 53 12 71
Acute Neuronopathic Gaucher Disease 55 71
Infantile Cerebral Gaucher Disease 12 55
Acute Neuronopathic Gaucher's Disease 28
Gaucher Disease, Infantile Cerebral 49
Gaucher's Disease Type Ii 12
Gaucher Disease Type Ii 71
Gaucher Disease, Type 2 69
Type 2 Gaucher Disease 51
Gaucher Disease 2 71
Gd 2 49
Gd2 71

Characteristics:

Orphanet epidemiological data:

55
gaucher disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: early childhood,infantile;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset between 3 and 6 months of age
death often by age 2 years
see also perinatal lethal variant , which is more severe
see also gaucher disease type iii , which is much less severe


HPO:

31
gaucher disease, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type Ii

NIH Rare Diseases : 49 Gaucher disease type 2 is an inheritedmetabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Many children die by 2 to 4 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 for some types of Gaucher disease, children with Gaucher disease type 2 generally don't respond to this treatment. Evaluation at a comprehensive center specializing in Gaucher disease and supportive care is appropriate for all affected children.  Last updated: 1/10/2018

MalaCards based summary : Gaucher Disease, Type Ii, also known as gaucher disease, acute neuronopathic type, is related to gaucher disease, type iii and gaucher's disease, and has symptoms including respiratory distress, dystonia and ophthalmoplegia. An important gene associated with Gaucher Disease, Type Ii is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include lung, brain and liver.

OMIM : 53 Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000). (230900)

UniProtKB/Swiss-Prot : 71 Gaucher disease 2: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.

Disease Ontology : 12 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

Wikipedia : 72 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside... more...

Related Diseases for Gaucher Disease, Type Ii

Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I Gaucher Disease, Type Ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

Diseases related to Gaucher Disease, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 32.1 GBA PSAP
2 gaucher's disease 31.7 GBA PSAP
3 neuroblastoma 9.7
4 gaucher disease, type i 9.7 GBA PSAP
5 sphingolipidosis 9.6 GBA PSAP
6 lipid storage disease 9.6 GBA PSAP
7 niemann-pick disease 9.4 GBA PSAP

Graphical network of the top 20 diseases related to Gaucher Disease, Type Ii:



Diseases related to Gaucher Disease, Type Ii

Symptoms & Phenotypes for Gaucher Disease, Type Ii

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
rigidity
cerebral atrophy
more
Abdomen Gastroin testinal:
dysphagia
poor feeding
uncoordinated swallowing

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
strabismus
oculomotor apraxia
convergent squint
ocular paresis

Head And Neck Mouth:
trismus

Respiratory Larynx:
laryngeal spasms

Abdomen External Features:
protruberant abdomen

Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia

Respiratory:
apnea

Growth Weight:
poor weight gain

Respiratory Lung:
recurrent aspiration pneumonia

Laboratory Abnormalities:
decreased acid beta galactosidase protein and activity


Clinical features from OMIM:

230900

Human phenotypes related to Gaucher Disease, Type Ii:

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 55 31 frequent (33%) Frequent (79-30%) HP:0002098
2 dystonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001332
3 ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000602
4 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
5 dysphagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002015
6 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
7 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
8 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 flexion contracture 55 31 frequent (33%) Frequent (79-30%) HP:0001371
10 generalized myoclonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002123
11 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
12 cough 55 31 frequent (33%) Frequent (79-30%) HP:0012735
13 encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001298
14 cardiac arrest 55 31 occasional (7.5%) Occasional (29-5%) HP:0001695
15 abnormal pattern of respiration 55 31 hallmark (90%) Very frequent (99-80%) HP:0002793
16 seizures 31 HP:0001250
17 hyperreflexia 31 HP:0001347
18 failure to thrive 31 HP:0001508
19 global developmental delay 31 HP:0001263
20 anemia 31 HP:0001903
21 feeding difficulties 31 HP:0011968
22 thrombocytopenia 31 HP:0001873
23 apnea 31 HP:0002104
24 rigidity 31 HP:0002063
25 trismus 31 HP:0000211
26 cerebral atrophy 31 HP:0002059
27 oculomotor apraxia 31 HP:0000657
28 esotropia 31 HP:0000565
29 protuberant abdomen 31 HP:0001538
30 progressive neurologic deterioration 31 HP:0002344
31 bulbar signs 31 HP:0002483
32 recurrent aspiration pneumonia 31 HP:0002100

UMLS symptoms related to Gaucher Disease, Type Ii:


seizures, muscle spasticity, muscle rigidity, apnea

Drugs & Therapeutics for Gaucher Disease, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
2 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
3 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
4 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
5 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
6 Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease Completed NCT00244582
7 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
8 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

Search NIH Clinical Center for Gaucher Disease, Type Ii

Genetic Tests for Gaucher Disease, Type Ii

Genetic tests related to Gaucher Disease, Type Ii:

# Genetic test Affiliating Genes
1 Acute Neuronopathic Gaucher's Disease 28 GBA

Anatomical Context for Gaucher Disease, Type Ii

MalaCards organs/tissues related to Gaucher Disease, Type Ii:

38
Lung, Brain, Liver, Bone, Bone Marrow, Spleen, Eye

Publications for Gaucher Disease, Type Ii

Articles related to Gaucher Disease, Type Ii:

# Title Authors Year
1
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology. ( 25822147 )
2015
2
Hemophagocytic Lymphohistiocytosis Syndrome Associated with Gaucher Disease Type 2. ( 25330526 )
2014
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
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. ( 14678774 )
2003
5
Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making. ( 11358352 )
2000
6
Enzyme therapy in Gaucher disease type 2: an autopsy case. ( 10223617 )
1998
7
Pathological findings in Gaucher disease type 2 patients following enzyme therapy. ( 7672788 )
1995

Variations for Gaucher Disease, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type Ii:

71
# Symbol AA change Variation ID SNP ID
1 GBA p.Leu483Pro VAR_003321 rs421016
2 GBA p.Glu80Lys VAR_009033
3 GBA p.Arg170Cys VAR_009035 rs398123530
4 GBA p.Asp513Tyr VAR_009050

ClinVar genetic disease variations for Gaucher Disease, Type Ii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
3 GBA NM_001005741.2(GBA): c.1361C> G (p.Pro454Arg) single nucleotide variant Pathogenic rs121908295 GRCh37 Chromosome 1, 155205499: 155205499
4 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
5 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
6 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
7 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
8 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
9 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908305 GRCh37 Chromosome 1, 155206170: 155206170
10 GBA NM_001005741.2(GBA): c.1141T> G (p.Cys381Gly) single nucleotide variant Pathogenic rs121908306 GRCh37 Chromosome 1, 155206119: 155206119

Expression for Gaucher Disease, Type Ii

Search GEO for disease gene expression data for Gaucher Disease, Type Ii.

Pathways for Gaucher Disease, Type Ii

Pathways related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 GBA PSAP
2 10.71 GBA PSAP

GO Terms for Gaucher Disease, Type Ii

Cellular components related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.16 GBA PSAP
2 lysosomal membrane GO:0005765 8.96 GBA PSAP
3 lysosomal lumen GO:0043202 8.62 GBA PSAP

Biological processes related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.16 GBA PSAP
2 glycosphingolipid metabolic process GO:0006687 8.96 GBA PSAP
3 sphingolipid metabolic process GO:0006665 8.62 GBA PSAP

Sources for Gaucher Disease, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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