MCID: GCH016
MIFTS: 44

Gaucher Disease, Type Ii

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

Aliases & Classifications for Gaucher Disease, Type Ii

MalaCards integrated aliases for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 57 13 55 38
Gaucher Disease, Acute Neuronopathic Type 57 12 53
Acute Neuronopathic Gaucher's Disease 29 6 40
Gaucher Disease Type 2 76 53 59
Gd Ii 57 12 75
Acute Neuronopathic Gaucher Disease 59 75
Infantile Cerebral Gaucher Disease 12 59
Gaucher Disease, Infantile Cerebral 53
Gaucher's Disease Type Ii 12
Gaucher Disease Type Ii 75
Gaucher Disease, Type 2 73
Type 2 Gaucher Disease 55
Gaucher Disease 2 75
Gd 2 53
Gd2 75

Characteristics:

Orphanet epidemiological data:

59
gaucher disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: early childhood,infantile;

OMIM:

57
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:

32
gaucher disease, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type Ii

NIH Rare Diseases : 53 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. 

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 apnea, muscle rigidity and muscle spasticity. 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 liver, lung and brain, and related phenotypes are strabismus and ophthalmoplegia

OMIM : 57 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 : 75 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 : 76 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 31.8 GBA PSAP
2 gaucher's disease 31.2 GBA PSAP
3 neuroblastoma 9.8
4 gaucher disease, type i 9.5 GBA PSAP
5 sphingolipidosis 9.4 GBA PSAP
6 niemann-pick disease 9.3 GBA PSAP
7 lipid storage disease 9.2 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:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
rigidity
cerebral atrophy
more
Abdomen Gastrointestinal:
dysphagia
poor feeding
uncoordinated swallowing

Abdomen Liver:
hepatomegaly

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

Head And Neck Mouth:
trismus

Growth Weight:
poor weight gain

Abdomen External Features:
protruberant abdomen

Growth Other:
failure to thrive

AbdomenSpleen:
splenomegaly

Hematology:
anemia
thrombocytopenia

Respiratory:
apnea

Respiratory Lung:
recurrent aspiration pneumonia

Respiratory Larynx:
laryngeal spasms

Laboratory Abnormalities:
decreased acid beta galactosidase protein and activity


Clinical features from OMIM:

230900

Human phenotypes related to Gaucher Disease, Type Ii:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
2 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
5 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
6 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
7 cardiac arrest 59 32 occasional (7.5%) Occasional (29-5%) HP:0001695
8 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
9 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
10 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
11 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
12 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
13 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
14 abnormal pattern of respiration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002793
15 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
16 trismus 32 HP:0000211
17 esotropia 32 HP:0000565
18 oculomotor apraxia 32 HP:0000657
19 seizures 32 HP:0001250
20 global developmental delay 32 HP:0001263
21 hyperreflexia 32 HP:0001347
22 failure to thrive 32 HP:0001508
23 protuberant abdomen 32 HP:0001538
24 thrombocytopenia 32 HP:0001873
25 anemia 32 HP:0001903
26 cerebral atrophy 32 HP:0002059
27 rigidity 32 HP:0002063
28 recurrent aspiration pneumonia 32 HP:0002100
29 apnea 32 HP:0002104
30 progressive neurologic deterioration 32 HP:0002344
31 bulbar signs 32 HP:0002483
32 feeding difficulties 32 HP:0011968

UMLS symptoms related to Gaucher Disease, Type Ii:


apnea, muscle rigidity, muscle spasticity, seizures

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 29 GBA

Anatomical Context for Gaucher Disease, Type Ii

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

41
Liver, Lung, Brain, Spleen, Bone, Bone Marrow, Eye

Publications for Gaucher Disease, Type Ii

Articles related to Gaucher Disease, Type Ii:

# Title Authors Year
1
Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions. ( 26646163 )
2016
2
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology. ( 25822147 )
2015
3
Hemophagocytic Lymphohistiocytosis Syndrome Associated with Gaucher Disease Type 2. ( 25330526 )
2014
4
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
5
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. ( 14678774 )
2003
6
Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making. ( 11358352 )
2000
7
Enzyme therapy in Gaucher disease type 2: an autopsy case. ( 10223617 )
1998
8
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:

75
# 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
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh38 Chromosome 1, 155235252: 155235252
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.1361C> G (p.Pro454Arg) single nucleotide variant Pathogenic rs121908295 GRCh38 Chromosome 1, 155235708: 155235708
5 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
6 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
7 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
8 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727
9 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
10 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh38 Chromosome 1, 155235196: 155235196
11 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
12 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh38 Chromosome 1, 155238141: 155238141
13 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
14 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh38 Chromosome 1, 155236384: 155236384
15 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Likely pathogenic rs121908305 GRCh37 Chromosome 1, 155206170: 155206170
16 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Likely pathogenic rs121908305 GRCh38 Chromosome 1, 155236379: 155236379
17 GBA NM_001005741.2(GBA): c.1141T> G (p.Cys381Gly) single nucleotide variant Pathogenic rs121908306 GRCh37 Chromosome 1, 155206119: 155206119
18 GBA NM_001005741.2(GBA): c.1141T> G (p.Cys381Gly) single nucleotide variant Pathogenic rs121908306 GRCh38 Chromosome 1, 155236328: 155236328
19 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
20 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh38 Chromosome 1, 155240629: 155240629

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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