GD3
MCID: GCH017
MIFTS: 51

Gaucher Disease, Type Iii (GD3)

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 Iii

MalaCards integrated aliases for Gaucher Disease, Type Iii:

Name: Gaucher Disease, Type Iii 56 13 37
Gaucher Disease, Subacute Neuronopathic Type 56 12 52 58
Gaucher Disease, Juvenile and Adult, Cerebral 56 12 52
Gaucher Disease, Chronic Neuronopathic Type 56 12 52
Subacute Neuronopathic Gaucher's Disease 29 6 39
Gaucher Disease Type 3 74 52 58
Gd Iii 56 12 73
Gaucher's Disease Type Iii 12 15
Cerebral Juvenile and Adult Form of Gaucher Disease 58
Cerebral, Juvenile and Adult, Gaucher Disease 73
Gaucher Disease Chronic Neuronopathic Type 73
Subacute Neuronopathic Gaucher Disease 73
Chronic Neuronopathic Gaucher Disease 58
Gaucher Disease Type Ii 73
Gaucher Disease, Type 2 71
Gaucher Disease, Type 3 71
Type 3 Gaucher Disease 54
Gaucher Disease 3 73
Gd 3 52
Gd3 73

Characteristics:

Orphanet epidemiological data:

58
gaucher disease type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
adult onset has been reported
onset usually in childhood (range infancy to late childhood)
subtype 3a comprises myoclonus and dementia
subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease
subtype 3c comprises cardiovascular calcifications


HPO:

31
gaucher disease, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Inborn errors of metabolism


Summaries for Gaucher Disease, Type Iii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 77261 Definition Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term). Epidemiology The annual incidence of GD is about 1/60,000 and the prevalence is approximately 1/100,000. GD type 3 accounts for 5% of all patients with GD. Clinical description The clinical presentation is very heterogeneous. Neurological disease appears in childhood or adolescence, a much later onset than in GD type 2 (see this term). Encephalopathy can be the presenting sign of the disease or may occur later in the disease course. Some patients have moderate systemic involvement associated with ophthalmoplegia as the only neurological symptom. For the more severe forms, the neurological signs encountered are variable: supranuclear horizontal ophthalmoplegia, progressive myoclonic epilepsy , cerebellar ataxia , spasticity and dementia . GD type 3 is also associated with the clinical and biological signs of ''systemic'' disease, such as frequent asthenia, growth retardation or delayed puberty, splenomegaly and hepatomegaly. Bone anomalies may also be present and manifest as deformations, osteopenia, which sometimes leads to pathological fractures or vertebral compression, bone infarctions or even aseptic osteonecrosis. Involvement of other organs (rarely symptomatic pulmonary, renal and cardiac) is less common. Pancytopenia is frequent and involves varying degrees of thrombocytopenia (sometimes severe), anemia and, less frequently, leukoneutropenia. Polyclonal hypergammaglobulinemia is often present and is sometimes complicated by monoclonal gammapathy. Etiology GD type 3 is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that codes for the lysosomal enzyme , glucocerebrosidase. The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and the bone marrow (Gaucher cells). Diagnostic methods Diagnostic methods involve ultrasound and magnetic resonance imaging (MRI) for initial evaluation and subsequent monitoring of hepatosplenomegaly , radiography and bone scintigraphy to detect bone lesions and complications, osteodensitometry for the evaluation of osteopenia of the lumbar spine and femoral neck, and cardiac ultrasound for the detection of pulmonary arterial hypertension . An increase in certain biological markers that are important both for the initial diagnosis and monitoring with or without treatment, is also observed: chitotriosidase, an angiotensin converting enzyme, ferritin and tartrate-resistant acid phosphatases. Diagnosis can be confirmed by demonstrating a deficit in the enzymatic activity of glucocerebrosidase in circulating leukocytes . In rare cases, genotyping may be of prognostic value: a patient with a homozygous L444P mutation in the GBA gene has a very high risk of developing neurological disease. Genetic counseling Transmission is autosomal recessive . Management and treatment The treatment for patients with GD type 3 exhibiting clinically significant non neurological manifestations is enzyme substitution therapy (imiglucerase with marketing authorization (MA) since 1997). It appears to slow progression of the neurological symptoms and is effective against the systemic manifestations. Prognosis In the absence of treatment, clinical progression leads to death within a few years. Visit the Orphanet disease page for more resources.

MalaCards based summary : Gaucher Disease, Type Iii, also known as gaucher disease, subacute neuronopathic type, is related to gaucher disease, type i and gaucher's disease, and has symptoms including seizures, ataxia and apnea. An important gene associated with Gaucher Disease, Type Iii is GBA (Glucosylceramidase Beta). The drugs Eliglustat and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

OMIM : 56 Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. Patterson et al. (1993) suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (231005), which is associated with cardiovascular calcifications. (231000)

UniProtKB/Swiss-Prot : 73 Gaucher disease 3: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.

Wikipedia : 74 Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a... more...

Related Diseases for Gaucher Disease, Type Iii

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 Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type i 30.8 PSAP GBA CHIT1
2 gaucher's disease 30.7 PSAP GBA CHIT1
3 splenomegaly 30.5 GBA CHIT1
4 gaucher disease, type ii 30.1 PSAP GBA CHIT1
5 krabbe disease 30.0 PSAP GBA CHIT1
6 niemann-pick disease, type a 30.0 PSAP CHIT1
7 niemann-pick disease 29.9 PSAP GBA CHIT1
8 lysosomal storage disease 29.9 PSAP GBA CHIT1
9 ocular motor apraxia 11.4
10 gaucher disease, type iiic 11.3
11 glioma 10.4
12 neuroblastoma 10.4
13 glial tumor 10.4
14 hereditary late-onset parkinson disease 10.3 PSAP GBA
15 melanoma 10.3
16 astrocytoma 10.3
17 progressive myoclonus epilepsy 4 10.3 PSAP GBA
18 chitotriosidase deficiency 10.2 GBA CHIT1
19 guillain-barre syndrome 10.2
20 precursor t-cell acute lymphoblastic leukemia 10.2
21 leukemia, acute lymphoblastic 10.2
22 gangliosidosis 10.2 PSAP CHIT1
23 protein-losing enteropathy 10.2
24 diarrhea 10.2
25 lymphangiectasis 10.2
26 early myoclonic encephalopathy 10.2
27 myoclonus 10.2
28 melanoma, cutaneous malignant 10 10.1
29 miller fisher syndrome 10.1
30 urticaria 10.1
31 gm1 gangliosidosis 10.1 PSAP CHIT1
32 gm2 gangliosidosis 10.1 PSAP GBA
33 osseous heteroplasia, progressive 10.1 MT-CO3 GRIK1
34 progressive myoclonus epilepsy 10.1
35 myoclonus epilepsy 10.1
36 seizure disorder 10.1
37 sphingolipidosis 10.1 PSAP GBA CHIT1
38 breast cancer 10.1
39 familial expansile osteolysis 10.1 MT-CO3 GRIK1 APEX2
40 fabry disease 10.0 PSAP GBA CHIT1
41 medulloblastoma 10.0
42 pheochromocytoma 10.0
43 nasopharyngeal carcinoma 10.0
44 adrenal gland pheochromocytoma 10.0
45 childhood acute lymphocytic leukemia 10.0
46 leukemia 10.0
47 cholera 10.0
48 basal cell carcinoma 10.0
49 breast ductal carcinoma 10.0
50 rhabdomyosarcoma 10.0

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



Diseases related to Gaucher Disease, Type Iii

Symptoms & Phenotypes for Gaucher Disease, Type Iii

Human phenotypes related to Gaucher Disease, Type Iii:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
6 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
7 ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000602
8 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
9 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
10 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
11 increased susceptibility to fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002659
12 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
13 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
17 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
18 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
19 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
20 pancytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001876
21 increased circulating antibody level 31 frequent (33%) HP:0010702
22 generalized myoclonic seizure 31 frequent (33%) HP:0002123
23 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
24 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
25 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
26 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
27 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
28 mitral valve calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004382
29 aortic valve calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004380
30 interstitial pulmonary abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0006530
31 pericardial effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001698
32 neurological speech impairment 31 HP:0002167
33 short stature 31 HP:0004322
34 generalized myoclonic seizures 58 Frequent (79-30%)
35 abnormal heart valve morphology 58 Occasional (29-5%)
36 myoclonus 31 HP:0001336
37 growth delay 58 Frequent (79-30%)
38 depressivity 31 HP:0000716
39 motor delay 31 HP:0001270
40 decreased body weight 31 HP:0004325
41 increased antibody level in blood 58 Frequent (79-30%)
42 horizontal supranuclear gaze palsy 31 HP:0007817
43 progressive neurologic deterioration 31 HP:0002344
44 spastic paraparesis 31 HP:0002313
45 vascular calcification 31 HP:0004934
46 decreased beta-glucocerebrosidase level 31 HP:0003656

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
seizures
ataxia
spastic paraparesis
delayed motor development
subacute neurologic deterioration
more
Hematology:
thrombocytopenia
pancytopenia
gaucher cells in bone marrow

Head And Neck Eyes:
squint
abnormal eye movements
abnormal saccades
supranuclear gaze palsy, horizontal (type iiib)
vertical ocular movements are usually preserved

Laboratory Abnormalities:
decreased beta-glucocerebrosidase protein and activity

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
depression

Growth Weight:
decreased weight

Clinical features from OMIM:

231000

UMLS symptoms related to Gaucher Disease, Type Iii:


seizures, ataxia, apnea, muscle rigidity, muscle spasticity, paraparesis, spastic

Drugs & Therapeutics for Gaucher Disease, Type Iii

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eliglustat Approved Phase 3 491833-29-5 23652731
2 Pharmaceutical Solutions Phase 3
3
Ecromeximab Investigational Phase 1, Phase 2 292819-64-8
4 Antibodies Phase 1, Phase 2
5 Antibodies, Monoclonal Phase 1, Phase 2
6 Antineoplastic Agents, Immunological Phase 1, Phase 2
7 Immunoglobulins Phase 1, Phase 2
8
Carvedilol Approved, Investigational 72956-09-3 2585
9 Adrenergic beta-Antagonists
10 Adrenergic alpha-Antagonists
11 Antihypertensive Agents
12 Adrenergic Agents
13 Adrenergic Antagonists
14 Antioxidants
15 Hormones
16 Vasodilator Agents
17 Adrenergic alpha-1 Receptor Antagonists
18 Protective Agents
19 Calcium, Dietary
20 Neurotransmitter Agents
21 calcium channel blockers
22 Grapefruit Seed Extract
23
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Not yet recruiting NCT04002830 Phase 4 Elelyso
2 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
3 Open Label, Two Cohort (With and Without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients With Gaucher Disease Type 1 and Type 3 Recruiting NCT03485677 Phase 3 Eliglustat GZ385660;Imiglucerase GZ437843
4 A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
5 A 208-week Three-part,Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
6 An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants With Type 2 Gaucher Disease Not yet recruiting NCT04411654 Phase 1, Phase 2
7 An Open-Label Study of KW-2871 Administered With a Premedication Regimen in Patients With Advanced Stage IV Melanoma Terminated NCT00199342 Phase 1, Phase 2 KW-2871
8 A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
9 A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
10 A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease Completed NCT00351156
11 Direct Convection-Enhanced Delivery of Glucocerebrosidase for the Treatment of Type 2 (Acute Neuronopathic) Gaucher Disease Completed NCT00244582
12 A Prospective, Double-blind, Randomized Placebo-controlled Trial of Carvedilol for Early Primary Prophylaxis of Esophageal Varices in Cirrhosis. Completed NCT01196507 Carvedilol;Placebo
13 Predictive Measures to Stratify Clinical Outcomes in Children and Adults With Gaucher Disease and Responses to Specific Therapies Recruiting NCT03240653
14 Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease Recruiting NCT04055831
15 Evaluation of the Safety in the Combination Usage of Cerdelga and Cerezyme in Type III Gaucher Disease Patients and the Efficacy on Soft Tissue Diseases. Active, not recruiting NCT03519646 Eliglustat

Search NIH Clinical Center for Gaucher Disease, Type Iii

Genetic Tests for Gaucher Disease, Type Iii

Genetic tests related to Gaucher Disease, Type Iii:

# Genetic test Affiliating Genes
1 Subacute Neuronopathic Gaucher's Disease 29 GBA

Anatomical Context for Gaucher Disease, Type Iii

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

40
Bone, Bone Marrow, Spleen, Liver, Brain, Kidney, Lung

Publications for Gaucher Disease, Type Iii

Articles related to Gaucher Disease, Type Iii:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. 56 6 61
2378352 1990
2
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. 6 56
15690354 2005
3
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 6 56
12595585 2003
4
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 56 6
10796875 2000
5
Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies. 56 61
8244344 1993
6
Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects. 56 61
6628452 1983
7
Gaucher disease--Norrbottnian type. I. General clinical description. 56 61
7363908 1980
8
The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos. 6
23448517 2013
9
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. 6
22713811 2013
10
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. 56
20047948 2010
11
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. 6
19286695 2009
12
Randomized, controlled trial of miglustat in Gaucher's disease type 3. 56
19067373 2008
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
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. 56
18347322 2008
16
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 6
18332251 2008
17
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. 6
18022370 2007
18
Movement and mood disorder in two brothers with Gaucher disease. 56
17850633 2007
19
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. 6
17620502 2007
20
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 6
15146461 2004
21
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. 56
12970647 2003
22
Perinatal-lethal Gaucher disease. 6
12838552 2003
23
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. 6
12476451 2003
24
Management of neuronopathic Gaucher disease: a European consensus. 56
11486896 2001
25
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
26
Gaucher Disease 6
20301446 2000
27
Type 2 Gaucher disease: the collodion baby phenotype revisited. 6
10685993 2000
28
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 6
10636167 2000
29
Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. 6
10466427 1999
30
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 6
9650766 1998
31
D409H/D409H genotype in Gaucher-like disease. 6
9040001 1997
32
Gaucher disease: studies of phenotype, molecular diagnosis and treatment. 56
8737974 1996
33
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. 6
8929950 1996
34
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 6
8829654 1996
35
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 6
7475546 1995
36
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 6
8544197 1995
37
Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. 56
8544959 1995
38
Gaucher disease in Spanish patients: analysis of eight mutations. 6
7627184 1995
39
Glucocerebrosidase mutations in Gaucher disease. 6
8790604 1994
40
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? 6
7857677 1994
41
Mutations causing Gaucher disease. 6
8118460 1994
42
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. 56
8413956 1993
43
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
44
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. 6
1594045 1992
45
Genetic diagnosis of Gaucher's disease. 6
1348297 1992
46
Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. 6
1301953 1992
47
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. 6
1840477 1991
48
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. 6
1899336 1991
49
Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. 56
1817041 1991
50
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 6
1974409 1990

Variations for Gaucher Disease, Type Iii

ClinVar genetic disease variations for Gaucher Disease, Type Iii:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_000157.4(GBA):c.1388+2T>CSNV Pathogenic 813335 1:155205470-155205470 1:155235679-155235679
2 GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp)SNV Pathogenic 813336 1:155206086-155206086 1:155236295-155236295
3 GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys)SNV Pathogenic 813337 1:155207161-155207161 1:155237370-155237370
4 GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro)SNV Pathogenic,risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252
5 GBA NM_000157.4(GBA):c.222_224del (p.Thr75del)deletion Pathogenic 642539 1:155209760-155209762 1:155239969-155239971
6 GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys)SNV Pathogenic 4295 rs80356771 1:155204987-155204987 1:155235196-155235196
7 GBA NM_000157.4(GBA):c.754T>A (p.Phe252Ile)SNV Pathogenic 4301 rs381737 1:155207932-155207932 1:155238141-155238141
8 GBA NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18)duplication Pathogenic 4302 rs387906315 1:155210451-155210452 1:155240660-155240661
9 GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His)SNV Pathogenic 4311 rs75822236 1:155204793-155204793 1:155235002-155235002
10 GBA NM_000157.4(GBA):c.1174C>G (p.Arg392Gly)SNV Pathogenic 4323 rs121908308 1:155206086-155206086 1:155236295-155236295
11 GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser)SNV Pathogenic 4327 rs121908311 1:155205614-155205614 1:155235823-155235823
12 GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln)SNV Pathogenic 4328 rs78973108 1:155207244-155207244 1:155237453-155237453
13 GBA NM_000157.4(GBA):c.354G>C (p.Lys118Asn)SNV Pathogenic 4330 rs121908312 1:155209507-155209507 1:155239716-155239716
14 GBA NM_000157.4(GBA):c.703T>C (p.Ser235Pro)SNV Pathogenic 21072 rs1064644 1:155207983-155207983 1:155238192-155238192
15 GBA NM_000157.4(GBA):c.115+1G>ASNV Pathogenic 93445 rs104886460 1:155210420-155210420 1:155240629-155240629
16 GBA NM_000157.4(GBA):c.508C>T (p.Arg170Cys)SNV Pathogenic 93453 rs398123530 1:155208388-155208388 1:155238597-155238597
17 GBA NM_000157.4(GBA):c.625C>T (p.Arg209Cys)SNV Pathogenic 93455 rs398123532 1:155208061-155208061 1:155238270-155238270
18 GBA NM_000157.4(GBA):c.681T>G (p.Asn227Lys)SNV Pathogenic 93458 rs381418 1:155208005-155208005 1:155238214-155238214
19 GBA NM_000157.4(GBA):c.721G>A (p.Gly241Arg)SNV Pathogenic 93459 rs409652 1:155207965-155207965 1:155238174-155238174
20 GBA NM_000157.4(GBA):c.667T>C (p.Trp223Arg)SNV Pathogenic/Likely pathogenic 93457 rs61748906 1:155208019-155208019 1:155238228-155238228
21 GBA NM_000157.4(GBA):c.1171G>C (p.Val391Leu)SNV Pathogenic/Likely pathogenic 93446 rs398123527 1:155206089-155206089 1:155236298-155236298
22 GBA NM_000157.4(GBA):c.1448T>G (p.Leu483Arg)SNV Pathogenic/Likely pathogenic 93449 rs421016 1:155205043-155205043 1:155235252-155235252
23 GBA NM_000157.4(GBA):c.680A>G (p.Asn227Ser)SNV Pathogenic/Likely pathogenic 4314 rs364897 1:155208006-155208006 1:155238215-155238215
24 GBA NM_000157.4(GBA):c.764T>A (p.Phe255Tyr)SNV Pathogenic/Likely pathogenic 4298 rs74500255 1:155207367-155207367 1:155237576-155237576
25 GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His)SNV Pathogenic/Likely pathogenic 4293 rs1064651 1:155205518-155205518 1:155235727-155235727
26 GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser)SNV Pathogenic/Likely pathogenic 4290 rs76763715 1:155205634-155205634 1:155235843-155235843
27 GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu)SNV Pathogenic/Likely pathogenic 4292 rs80356769 1:155205563-155205563 1:155235772-155235772
28 GBA NM_000157.4(GBA):c.1343A>T (p.Asp448Val)SNV Likely pathogenic 4294 rs77369218 1:155205517-155205517 1:155235726-155235726
29 GBA NM_000157.4(GBA):c.946C>T (p.Arg316Cys)SNV Likely pathogenic 813338 1:155207185-155207185 1:155237394-155237394
30 GBA NM_000157.4(GBA):c.929G>A (p.Ser310Asn)SNV Likely pathogenic 813339 1:155207202-155207202 1:155237411-155237411
31 GBA NM_000157.4(GBA):c.913C>G (p.Pro305Ala)SNV Likely pathogenic 813340 1:155207218-155207218 1:155237427-155237427
32 GBA NM_000157.4(GBA):c.509G>A (p.Arg170His)SNV Likely pathogenic 813341 1:155208387-155208387 1:155238596-155238596
33 GBA NM_000157.4(GBA):c.637C>T (p.Leu213Phe)SNV Conflicting interpretations of pathogenicity 281587 rs374591570 1:155208049-155208049 1:155238258-155238258
34 GBA NM_000157.4(GBA):c.1102C>T (p.Arg368Cys)SNV Conflicting interpretations of pathogenicity 420153 rs374306700 1:155206158-155206158 1:155236367-155236367
35 GBA NM_000157.4(GBA):c.882T>G (p.His294Gln)SNV Conflicting interpretations of pathogenicity, other 242810 rs367968666 1:155207249-155207249 1:155237458-155237458
36 GBA NM_000157.4(GBA):c.1505G>A (p.Arg502His)SNV Conflicting interpretations of pathogenicity 21070 rs80356772 1:155204986-155204986 1:155235195-155235195
37 GBA NM_000157.4(GBA):c.835C>G (p.Leu279Val)SNV Uncertain significance 375274 rs1057519020 1:155207296-155207296 1:155237505-155237505
38 GBA NM_000157.4(GBA):c.1316G>A (p.Ser439Asn)SNV Uncertain significance 694729 1:155205544-155205544 1:155235753-155235753
39 GBA NM_000157.4(GBA):c.1497G>C (p.Val499=)SNV Benign/Likely benign 93451 rs1135675 1:155204994-155204994 1:155235203-155235203
40 GBA NM_000157.4(GBA):c.1483G>C (p.Ala495Pro)SNV Benign 93450 rs368060 1:155205008-155205008 1:155235217-155235217

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

73
# Symbol AA change Variation ID SNP ID
1 GBA p.Asn227Ser VAR_003274 rs364897
2 GBA p.Val437Leu VAR_010070 rs121908310
3 GBA p.Thr530Ile VAR_010075 rs78016673
4 GBA p.Ile441Phe VAR_032414
5 GBA p.Gly304Arg VAR_081196

Expression for Gaucher Disease, Type Iii

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

Pathways for Gaucher Disease, Type Iii

GO Terms for Gaucher Disease, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex IV GO:0045277 8.62 MT-CO3 MT-CO2

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

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 8.96 PSAP GBA
2 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 MT-CO3 MT-CO2

Molecular functions related to Gaucher Disease, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO3 MT-CO2

Sources for Gaucher Disease, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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