GD2
MCID: GCH016
MIFTS: 53

Gaucher Disease, Type Ii (GD2)

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

Aliases & Classifications for Gaucher Disease, Type Ii

MalaCards integrated aliases for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 57 13 54 37
Gaucher Disease, Acute Neuronopathic Type 57 12 20
Acute Neuronopathic Gaucher's Disease 29 6 39
Gaucher Disease Type 2 73 20 58
Gd Ii 57 12 72
Gd2 57 12 72
Acute Neuronopathic Gaucher Disease 58 72
Infantile Cerebral Gaucher Disease 12 58
Gaucher's Disease Type Ii 12 15
Gaucher Disease, Infantile Cerebral 20
Gaucher Disease Type Ii 72
Gaucher Disease, Type 2 70
Type 2 Gaucher Disease 54
Gaucher Disease 2 72
Gd 2 20

Characteristics:

Orphanet epidemiological data:

58
gaucher disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: early childhood,infantile;

OMIM®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Inborn errors of metabolism


Summaries for Gaucher Disease, Type Ii

GARD : 20 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. 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, perinatal lethal and gaucher disease, type iii, and has symptoms including seizures, apnea and muscle rigidity. An important gene associated with Gaucher Disease, Type Ii is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Lysosome and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Prednisolone acetate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and eye, and related phenotypes are spasticity and dysphagia

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.

OMIM® : 57 Type II Gaucher disease (GD2) 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a... 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:

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, perinatal lethal 32.1 LOC106627981 GBA
2 gaucher disease, type iii 31.2 PSAP LOC106627981 LMBRD1 GBA ABCD4
3 splenomegaly 30.1 GBA CHIT1
4 krabbe disease 30.0 PSAP GBA CHIT1
5 lysosomal storage disease 29.9 PSAP GBA CHIT1
6 tremor 29.7 LOC106627981 GBA
7 tay-sachs disease 29.6 PSAP GBA CHIT1
8 sphingolipidosis 29.4 PSAP LAMP2 GBA CHIT1 CCL18
9 gaucher disease, type i 29.4 PSAP LOC106627981 GBA CHIT1 CCL18
10 gaucher's disease 29.3 PSAP LOC106627981 LAMP2 GBA CHIT1 CCL18
11 neuroblastoma 10.9
12 osteogenic sarcoma 10.4
13 retinoblastoma 10.3
14 hydrops fetalis, nonimmune 10.3
15 lymphatic malformation 7 10.3
16 rigidity and multifocal seizure syndrome, lethal neonatal 10.2 LOC106627981 GBA
17 melanoma 10.2
18 severe combined immunodeficiency 10.2
19 soft tissue sarcoma 10.2
20 gangliosidosis 10.2 PSAP CHIT1
21 chitotriosidase deficiency 10.2 GBA CHIT1
22 progressive myoclonus epilepsy 4 10.2 PSAP GBA
23 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.2 LOC106627981 GBA
24 parkinsonism 10.2 LOC106627981 GBA
25 glioblastoma 10.1
26 rhabdomyosarcoma 10.1
27 spindle cell sarcoma 10.1
28 herpes simplex 10.1
29 glioma 10.1
30 glial tumor 10.1
31 hereditary late-onset parkinson disease 10.1 PSAP GBA
32 gastric ulcer 10.1
33 gm1-gangliosidosis, type i 10.1 PSAP CHIT1
34 strabismus 10.1
35 liver disease 10.1
36 mechanical strabismus 10.1
37 hypertonia 10.1
38 myoclonus 10.1
39 galactosialidosis 10.1 PSAP CHIT1
40 sarcoma 10.1
41 gangliocytoma 10.1
42 ganglioneuroma 10.1
43 gm2 gangliosidosis 10.1 PSAP GBA
44 early-onset parkinson's disease 10.1 LOC106627981 GBA
45 uveoparotid fever 10.1 CHIT1 CCL18
46 breast cancer 10.1
47 ewing sarcoma 10.1
48 leiomyosarcoma 10.1
49 ganglioneuroblastoma 10.1
50 hepatic tuberculosis 10.0 CHIT1 CCL18

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

Human phenotypes related to Gaucher Disease, Type Ii:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
3 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
4 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
5 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
6 ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000602
7 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
8 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
9 abnormal pattern of respiration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002793
10 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
11 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
12 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
13 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
14 generalized myoclonic seizure 31 frequent (33%) HP:0002123
15 cardiac arrest 58 31 occasional (7.5%) Occasional (29-5%) HP:0001695
16 hyperreflexia 31 HP:0001347
17 failure to thrive 31 HP:0001508
18 global developmental delay 31 HP:0001263
19 anemia 31 HP:0001903
20 thrombocytopenia 31 HP:0001873
21 generalized myoclonic seizures 58 Frequent (79-30%)
22 bulbar signs 31 HP:0002483
23 apnea 31 HP:0002104
24 trismus 31 HP:0000211
25 feeding difficulties 31 HP:0011968
26 rigidity 31 HP:0002063
27 psychomotor retardation 31 HP:0025356
28 cerebral atrophy 31 HP:0002059
29 oculomotor apraxia 31 HP:0000657
30 progressive neurologic deterioration 31 HP:0002344
31 protuberant abdomen 31 HP:0001538
32 recurrent aspiration pneumonia 31 HP:0002100
33 esotropia 31 HP:0000565
34 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
bulbar signs
rigidity
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

Respiratory Lung:
recurrent aspiration pneumonia

Laboratory Abnormalities:
acid beta-glucosidase deficiency
decreased glucocerebrosidase activity

Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia

Respiratory:
apnea

Abdomen External Features:
protuberant abdomen

Growth Weight:
poor weight gain

Respiratory Larynx:
laryngeal spasms

Clinical features from OMIM®:

230900 (Updated 05-Apr-2021)

UMLS symptoms related to Gaucher Disease, Type Ii:


seizures; apnea; muscle rigidity; muscle spasticity

Drugs & Therapeutics for Gaucher Disease, Type Ii

Drugs for Gaucher Disease, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
2
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
5
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
6
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
7
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
8
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
10
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
11 Neuroprotective Agents Phase 1, Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Antibiotics, Antitubercular Phase 1, Phase 2
14 Protective Agents Phase 1, Phase 2
15 Hormone Antagonists Phase 1, Phase 2
16 glucocorticoids Phase 1, Phase 2
17 Methylprednisolone Acetate Phase 1, Phase 2
18 Hormones Phase 1, Phase 2
19 Antineoplastic Agents, Hormonal Phase 1, Phase 2
20 Anti-Bacterial Agents Phase 1, Phase 2
21 Antiemetics Phase 1, Phase 2
22 Anti-Inflammatory Agents Phase 1, Phase 2
23 Antifungal Agents Phase 1, Phase 2
24 Anti-Infective Agents Phase 1, Phase 2
25
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
26
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
27
Pembrolizumab Approved Phase 1 1374853-91-4
28 Immunologic Factors Phase 1
29 Immunosuppressive Agents Phase 1
30 Antineoplastic Agents, Immunological Phase 1
31 Antirheumatic Agents Phase 1
32 Alkylating Agents Phase 1
33 Antimetabolites Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants With Type 2 Gaucher Disease Recruiting NCT04411654 Phase 1, Phase 2 Methylprednisolone;Sirolimus;Prednisone
2 Administration of Peripheral Blood T-Cells and EBV Specific CTLs Transduced to Express GD-2 Specific Chimeric T Cell Receptors to Patients With Neuroblastoma Active, not recruiting NCT00085930 Phase 1
3 Autologous Activated T-Cells Transduced With A 3rd Generation GD-2 Chimeric Antigen Receptor And iCaspase9 Safety Switch Administered To Patients With Relapsed Or Refractory Neuroblastoma (GRAIN) Active, not recruiting NCT01822652 Phase 1 Cytoxan;Fludara;Keytruda
4 Direct Convection-Enhanced Delivery of Glucocerebrosidase for the Treatment of Type 2 (Acute Neuronopathic) Gaucher Disease Completed NCT00244582
5 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713

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:

40
Liver, Spleen, Eye, Bone Marrow, T Cells, Skin, Brain

Publications for Gaucher Disease, Type Ii

Articles related to Gaucher Disease, Type Ii:

(show top 50) (show all 91)
# Title Authors PMID Year
1
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. 57 6
22713811 2013
2
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. 6 57
15690354 2005
3
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 57 6
10649495 2000
4
Characterization of mutations in Gaucher patients by cDNA cloning. 6 57
2464926 1989
5
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. 6 57
2880291 1987
6
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 54 6
15214004 2004
7
Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease. 57 61
11999980 2002
8
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? 61 6
7857677 1994
9
The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos. 6
23448517 2013
10
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. 57
20616152 2010
11
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. 6
19286695 2009
12
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease. 57
19193629 2009
13
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 6
18586596 2008
14
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease. 6
18541817 2008
15
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 6
18332251 2008
16
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. 57
17989065 2008
17
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. 6
18022370 2007
18
Murine models of acute neuronopathic Gaucher disease. 57
17954912 2007
19
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. 6
17620502 2007
20
Detection of 12 new mutations in Gaucher disease Brazilian patients. 6
17059888 2006
21
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. 6
16546416 2006
22
Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. 57
16630170 2006
23
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. 57
12970647 2003
24
Perinatal-lethal Gaucher disease. 6
12838552 2003
25
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 6
12595585 2003
26
Management of neuronopathic Gaucher disease: a European consensus. 57
11486896 2001
27
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. 6
11148530 2001
28
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 6
10796875 2000
29
Type 2 Gaucher disease: the collodion baby phenotype revisited. 6
10685993 2000
30
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 6
10636167 2000
31
D409H/D409H genotype in Gaucher-like disease. 6
9040001 1997
32
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. 6
8929950 1996
33
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 6
7475546 1995
34
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 6
8544197 1995
35
Gaucher disease in Spanish patients: analysis of eight mutations. 6
7627184 1995
36
Glucocerebrosidase mutations in Gaucher disease. 6
8790604 1994
37
Mutations causing Gaucher disease. 6
8118460 1994
38
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. 6
1437405 1992
39
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. 6
1415223 1992
40
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. 6
1594045 1992
41
Gaucher disease: new molecular approaches to diagnosis and treatment. 6
1589760 1992
42
Genetic diagnosis of Gaucher's disease. 6
1348297 1992
43
Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. 6
1301953 1992
44
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. 6
1840477 1991
45
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. 6
1899336 1991
46
Prevalent and rare mutations among Gaucher patients. 6
2269438 1990
47
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. 6
2378352 1990
48
Sequence of two alleles responsible for Gaucher disease. 6
1972019 1990
49
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 6
1974409 1990
50
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene. 6
2309702 1990

Variations for Gaucher Disease, Type Ii

ClinVar genetic disease variations for Gaucher Disease, Type Ii:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106627981 , GBA NM_000157.4(GBA):c.1361C>G (p.Pro454Arg) SNV Pathogenic 4289 rs121908295 GRCh37: 1:155205499-155205499
GRCh38: 1:155235708-155235708
2 LOC106627981 , GBA NM_000157.4(GBA):c.1141T>G (p.Cys381Gly) SNV Pathogenic 4319 rs121908306 GRCh37: 1:155206119-155206119
GRCh38: 1:155236328-155236328
3 LOC106627981 , GBA NM_000157.4(GBA):c.1388+2T>C SNV Pathogenic 813335 rs1571965880 GRCh37: 1:155205470-155205470
GRCh38: 1:155235679-155235679
4 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) SNV Pathogenic 813336 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
5 LOC106627981 , GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys) SNV Pathogenic 813337 rs765633380 GRCh37: 1:155207161-155207161
GRCh38: 1:155237370-155237370
6 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
7 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
8 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
9 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
10 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
11 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4297 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
12 LOC106627981 , GBA NM_000157.4(GBA):c.754T>A (p.Phe252Ile) SNV Pathogenic 4301 rs381737 GRCh37: 1:155207932-155207932
GRCh38: 1:155238141-155238141
13 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
14 LOC106627981 , GBA NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) SNV Pathogenic 4318 rs121908305 GRCh37: 1:155206170-155206170
GRCh38: 1:155236379-155236379
15 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4334 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
16 LOC106627981 , GBA NM_000157.4(GBA):c.1085C>T (p.Thr362Ile) SNV Pathogenic 4306 rs76539814 GRCh37: 1:155206175-155206175
GRCh38: 1:155236384-155236384
17 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
18 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
19 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
20 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
21 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
22 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
23 LOC106627981 , GBA NM_000157.4(GBA):c.1505G>A (p.Arg502His) SNV Pathogenic 21070 rs80356772 GRCh37: 1:155204986-155204986
GRCh38: 1:155235195-155235195
24 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
25 LOC106627981 , GBA NM_000157.4(GBA):c.222_224del (p.Thr75del) Deletion Pathogenic 642539 rs761621516 GRCh37: 1:155209760-155209762
GRCh38: 1:155239969-155239971
26 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
27 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
28 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
29 LOC106627981 , GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) SNV Pathogenic 4327 rs121908311 GRCh37: 1:155205614-155205614
GRCh38: 1:155235823-155235823
30 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
31 LOC106627981 , GBA NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) SNV Pathogenic 4298 rs74500255 GRCh37: 1:155207367-155207367
GRCh38: 1:155237576-155237576
32 LOC106627981 , GBA NM_000157.4(GBA):c.721G>A (p.Gly241Arg) SNV Pathogenic 93459 rs409652 GRCh37: 1:155207965-155207965
GRCh38: 1:155238174-155238174
33 LOC106627981 , GBA NM_000157.4(GBA):c.703T>C (p.Ser235Pro) SNV Pathogenic 21072 rs1064644 GRCh37: 1:155207983-155207983
GRCh38: 1:155238192-155238192
34 LOC106627981 , GBA NM_000157.4(GBA):c.681T>G (p.Asn227Lys) SNV Pathogenic 93458 rs381418 GRCh37: 1:155208005-155208005
GRCh38: 1:155238214-155238214
35 LOC106627981 , GBA NM_000157.4(GBA):c.680A>G (p.Asn227Ser) SNV Pathogenic 4314 rs364897 GRCh37: 1:155208006-155208006
GRCh38: 1:155238215-155238215
36 LOC106627981 , GBA NM_000157.4(GBA):c.625C>T (p.Arg209Cys) SNV Pathogenic 93455 rs398123532 GRCh37: 1:155208061-155208061
GRCh38: 1:155238270-155238270
37 LOC106627981 , GBA NM_000157.4(GBA):c.508C>T (p.Arg170Cys) SNV Pathogenic 93453 rs398123530 GRCh37: 1:155208388-155208388
GRCh38: 1:155238597-155238597
38 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
39 GBA NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) Duplication Pathogenic 4302 rs387906315 GRCh37: 1:155210451-155210452
GRCh38: 1:155240660-155240661
40 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
41 LOC106627981 , GBA NM_000157.4(GBA):c.882T>G (p.His294Gln) SNV Likely pathogenic 242810 rs367968666 GRCh37: 1:155207249-155207249
GRCh38: 1:155237458-155237458
42 LOC106627981 , GBA NM_000157.4(GBA):c.476G>A (p.Arg159Gln) SNV Likely pathogenic 4291 rs79653797 GRCh37: 1:155208420-155208420
GRCh38: 1:155238629-155238629
43 LOC106627981 , GBA NM_000157.4(GBA):c.1171G>C (p.Val391Leu) SNV Likely pathogenic 93446 rs398123527 GRCh37: 1:155206089-155206089
GRCh38: 1:155236298-155236298
44 LOC106627981 , GBA NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) SNV Likely pathogenic 420153 rs374306700 GRCh37: 1:155206158-155206158
GRCh38: 1:155236367-155236367
45 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) SNV Likely pathogenic 93449 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
46 LOC106627981 , GBA NM_000157.4(GBA):c.637C>T (p.Leu213Phe) SNV Likely pathogenic 281587 rs374591570 GRCh37: 1:155208049-155208049
GRCh38: 1:155238258-155238258
47 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) SNV Likely pathogenic 93449 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
48 LOC106627981 , GBA NM_000157.4(GBA):c.667T>C (p.Trp223Arg) SNV Likely pathogenic 93457 rs61748906 GRCh37: 1:155208019-155208019
GRCh38: 1:155238228-155238228
49 LOC106627981 , GBA NM_000157.4(GBA):c.946C>T (p.Arg316Cys) SNV Likely pathogenic 813338 rs1264734195 GRCh37: 1:155207185-155207185
GRCh38: 1:155237394-155237394
50 LOC106627981 , GBA NM_000157.4(GBA):c.929G>A (p.Ser310Asn) SNV Likely pathogenic 813339 rs74731340 GRCh37: 1:155207202-155207202
GRCh38: 1:155237411-155237411

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

72 (show all 26)
# Symbol AA change Variation ID SNP ID
1 GBA p.Arg159Gln VAR_003263 rs79653797
2 GBA p.Pro217Ser VAR_003271
3 GBA p.Ser235Pro VAR_003278 rs1064644
4 GBA p.Gly241Arg VAR_003279 rs409652
5 GBA p.Phe252Ile VAR_003281 rs381737
6 GBA p.Arg296Gln VAR_003284 rs78973108
7 GBA p.Gly364Arg VAR_003296 rs121908305
8 GBA p.Cys381Gly VAR_003298 rs121908306
9 GBA p.Asp419Ala VAR_003305 rs77284004
10 GBA p.Gly428Glu VAR_003307
11 GBA p.Asn431Ile VAR_003309 rs77738682
12 GBA p.Asp438Asn VAR_003312 rs155321700
13 GBA p.Pro454Arg VAR_003316 rs121908295
14 GBA p.Leu483Pro VAR_003321 rs421016
15 GBA p.Glu80Lys VAR_009033
16 GBA p.Ser146Leu VAR_009034 rs758447515
17 GBA p.Arg170Cys VAR_009035 rs398123530
18 GBA p.Ala229Glu VAR_009038 rs75636769
19 GBA p.His294Gln VAR_009040 rs367968666
20 GBA p.Phe298Leu VAR_009041
21 GBA p.Arg324His VAR_009042 rs79696831
22 GBA p.Tyr343Cys VAR_009043 rs77321207
23 GBA p.Asn501Lys VAR_009049
24 GBA p.Asp513Tyr VAR_009050
25 GBA p.Asn227Ile VAR_081190
26 GBA p.Glu274Lys VAR_081192

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 10.91 PSAP LAMP2 GBA
2 10.28 LMBRD1 ABCD4

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 lysosomal membrane GO:0005765 9.35 PSAP LMBRD1 LAMP2 GBA ABCD4
2 lysosomal lumen GO:0043202 9.33 PSAP LAMP2 GBA
3 azurophil granule membrane GO:0035577 9.26 PSAP LAMP2
4 lysosome GO:0005764 9.1 PSAP LMBRD1 LAMP2 GBA CHIT1 ABCD4

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to starvation GO:0009267 9.32 LAMP2 GBA
2 sphingolipid metabolic process GO:0006665 9.26 PSAP GBA
3 glycosphingolipid metabolic process GO:0006687 9.16 PSAP GBA
4 negative regulation of protein complex assembly GO:0031333 8.96 LAMP2 GBA
5 cobalamin metabolic process GO:0009235 8.62 LMBRD1 ABCD4

Sources for Gaucher Disease, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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