GD3
MCID: GCH017
MIFTS: 52

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 57 13 37
Gaucher Disease, Subacute Neuronopathic Type 57 12 20 58
Gaucher Disease, Juvenile and Adult, Cerebral 57 12 20
Gaucher Disease, Chronic Neuronopathic Type 57 12 20
Gaucher Disease Type 3 73 20 58
Gd Iii 57 12 72
Subacute Neuronopathic Gaucher's Disease 29 39
Gaucher's Disease Type Iii 12 15
Gd3 57 72
Cerebral Juvenile and Adult Form of Gaucher Disease 58
Cerebral, Juvenile and Adult, Gaucher Disease 72
Gaucher Disease Chronic Neuronopathic Type 72
Subacute Neuronopathic Gaucher Disease 72
Chronic Neuronopathic Gaucher Disease 58
Gaucher Disease Type Iii 6
Gaucher Disease Type Ii 72
Gaucher Disease, Type 2 70
Gaucher Disease, Type 3 70
Type 3 Gaucher Disease 54
Gaucher Disease 3 72
Gd 3 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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

GARD : 20 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.

MalaCards based summary : Gaucher Disease, Type Iii, also known as gaucher disease, subacute neuronopathic type, is related to gaucher's disease and gaucher disease, type i, and has symptoms including seizures, ataxia and apnea. An important gene associated with Gaucher Disease, Type Iii is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways is Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Methylprednisolone hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, spleen and bone marrow, 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® : 57 Gaucher disease type III (GD3) 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 183)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 30.9 PSAP LOC106627981 GBA
2 gaucher disease, type i 30.2 PSAP LOC106627981 GBA
3 gaucher disease, type ii 29.7 PSAP LOC106627981 LMBRD1 GBA ABCD4
4 gaucher disease, type iiic 11.2
5 ocular motor apraxia 11.2
6 melanoma 10.3
7 glioma 10.3
8 glial tumor 10.3
9 gaucher disease, perinatal lethal 10.3 LOC106627981 GBA
10 rigidity and multifocal seizure syndrome, lethal neonatal 10.2 LOC106627981 GBA
11 glioblastoma 10.2
12 neuroblastoma 10.2
13 myoclonus 10.2
14 progressive myoclonus epilepsy 4 10.2 PSAP GBA
15 glioma susceptibility 1 10.2
16 malignant astrocytoma 10.2
17 precursor t-cell acute lymphoblastic leukemia 10.2
18 gm2-gangliosidosis, ab variant 10.2 PSAP GBA
19 hereditary late-onset parkinson disease 10.1 PSAP GBA
20 gallbladder papillomatosis 10.1 LMBRD1 ABCD4
21 leukemia, acute lymphoblastic 10.1
22 urticaria 10.1
23 myoclonic epilepsy of unverricht and lundborg 10.1
24 protein-losing enteropathy 10.1
25 early myoclonic encephalopathy 10.1
26 lymphangiectasis 10.1
27 splenomegaly 10.1
28 progressive myoclonus epilepsy 10.1
29 myoclonus epilepsy 10.1
30 seizure disorder 10.1
31 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 LOC106627981 GBA
32 guillain-barre syndrome 10.1
33 disorders of intracellular cobalamin metabolism 10.1 LMBRD1 ABCD4
34 vitamin metabolic disorder 10.1 LMBRD1 ABCD4
35 niemann-pick disease, type a 10.1 PSAP GBA
36 dementia, lewy body 10.0
37 parkinson disease, late-onset 10.0
38 strabismus 10.0
39 aspartylglucosaminuria 10.0
40 fucosidosis 10.0
41 krabbe disease 10.0
42 metachromatic leukodystrophy 10.0
43 adrenoleukodystrophy 10.0
44 apraxia 10.0
45 leukodystrophy 10.0
46 respiratory failure 10.0
47 central nervous system disease 10.0
48 lung disease 10.0
49 nervous system disease 10.0
50 mechanical strabismus 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 47)
# 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 ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000602
7 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
8 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
9 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
10 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
11 increased susceptibility to fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002659
12 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
13 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
14 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
15 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
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 mitral valve calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004382
28 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
29 aortic valve calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004380
30 pericardial effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001698
31 abnormal pulmonary interstitial morphology 31 occasional (7.5%) HP:0006530
32 neurological speech impairment 31 HP:0002167
33 depressivity 31 HP:0000716
34 short stature 31 HP:0004322
35 abnormal heart valve morphology 58 Occasional (29-5%)
36 myoclonus 31 HP:0001336
37 growth delay 58 Frequent (79-30%)
38 generalized myoclonic seizures 58 Frequent (79-30%)
39 motor delay 31 HP:0001270
40 decreased body weight 31 HP:0004325
41 increased antibody level in blood 58 Frequent (79-30%)
42 spastic paraparesis 31 HP:0002313
43 horizontal supranuclear gaze palsy 31 HP:0007817
44 progressive neurologic deterioration 31 HP:0002344
45 interstitial pulmonary abnormality 58 Occasional (29-5%)
46 vascular calcification 31 HP:0004934
47 decreased beta-glucocerebrosidase level 31 HP:0003656

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
ataxia
spastic paraparesis
delayed motor development
subacute neurologic deterioration
more
Abdomen Liver:
hepatomegaly

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 Spleen:
splenomegaly

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
depression

Growth Weight:
decreased weight

Clinical features from OMIM®:

231000 (Updated 20-May-2021)

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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
2
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
3
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
4
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
5
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
6
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
8
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
9
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
10
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
11 Gastrointestinal Agents Phase 1, Phase 2
12 Hormones Phase 1, Phase 2
13 Methylprednisolone Acetate Phase 1, Phase 2
14 Antiemetics Phase 1, Phase 2
15 Neuroprotective Agents Phase 1, Phase 2
16 Immunosuppressive Agents Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 1, Phase 2
18 Antibiotics, Antitubercular Phase 1, Phase 2
19 Protective Agents Phase 1, Phase 2
20 Hormone Antagonists Phase 1, Phase 2
21 Antineoplastic Agents, Hormonal Phase 1, Phase 2
22 Immunologic Factors Phase 1, Phase 2
23 Antifungal Agents Phase 1, Phase 2
24 Anti-Inflammatory Agents Phase 1, Phase 2
25 glucocorticoids Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27
Eliglustat Approved 491833-29-5 23652731
28 Grapefruit Seed Extract

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Recruiting NCT04002830 Phase 4 Elelyso
2 A 3-part Study to Evaluate the Efficacy and Safety of Venglustat in Combination With Cerezyme in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) With Open-label Long-term Treatment Recruiting NCT02843035 Phase 2, Phase 3 placebo;venglustat (GZ402671);imiglucerase
3 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
4 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
5 A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
6 Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 Recruiting NCT04470713
7 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, Spleen, Bone Marrow, Eye, Liver, Skin, Lung

Publications for Gaucher Disease, Type Iii

Articles related to Gaucher Disease, Type Iii:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. 61 6 57
2378352 1990
2
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. 57 6
15690354 2005
3
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 57 6
12595585 2003
4
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 6 57
10796875 2000
5
Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies. 61 57
8244344 1993
6
Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects. 57 61
6628452 1983
7
Gaucher disease--Norrbottnian type. I. General clinical description. 61 57
7363908 1980
8
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. 57
33483255 2021
9
The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos. 6
23448517 2013
10
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. 6
22713811 2013
11
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. 57
20047948 2010
12
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. 6
19286695 2009
13
Randomized, controlled trial of miglustat in Gaucher's disease type 3. 57
19067373 2008
14
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 6
18586596 2008
15
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease. 6
18541817 2008
16
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. 57
18347322 2008
17
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. 6
18332251 2008
18
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. 6
18022370 2007
19
Movement and mood disorder in two brothers with Gaucher disease. 57
17850633 2007
20
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. 6
17620502 2007
21
Detection of 12 new mutations in Gaucher disease Brazilian patients. 6
17059888 2006
22
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. 6
16546416 2006
23
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 6
15214004 2004
24
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 6
15146461 2004
25
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. 57
12970647 2003
26
Perinatal-lethal Gaucher disease. 6
12838552 2003
27
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. 6
12476451 2003
28
Management of neuronopathic Gaucher disease: a European consensus. 57
11486896 2001
29
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
30
Type 2 Gaucher disease: the collodion baby phenotype revisited. 6
10685993 2000
31
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 6
10636167 2000
32
Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin. 6
10466427 1999
33
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 6
9650766 1998
34
D409H/D409H genotype in Gaucher-like disease. 6
9040001 1997
35
Gaucher disease: studies of phenotype, molecular diagnosis and treatment. 57
8737974 1996
36
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. 6
8929950 1996
37
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 6
8829654 1996
38
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 6
7475546 1995
39
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 6
8544197 1995
40
Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease. 57
8544959 1995
41
Gaucher disease in Spanish patients: analysis of eight mutations. 6
7627184 1995
42
Glucocerebrosidase mutations in Gaucher disease. 6
8790604 1994
43
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
44
Mutations causing Gaucher disease. 6
8118460 1994
45
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. 57
8413956 1993
46
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
47
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. 6
1594045 1992
48
Genetic diagnosis of Gaucher's disease. 6
1348297 1992
49
Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants. 6
1301953 1992
50
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. 6
1840477 1991

Variations for Gaucher Disease, Type Iii

ClinVar genetic disease variations for Gaucher Disease, Type Iii:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
2 LOC106627981 , GBA NM_000157.4(GBA):c.1343A>T (p.Asp448Val) SNV Pathogenic 4294 rs77369218 GRCh37: 1:155205517-155205517
GRCh38: 1:155235726-155235726
3 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>G (p.Arg392Gly) SNV Pathogenic 4323 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
4 LOC106627981 , GBA NM_000157.4(GBA):c.1388+2T>C SNV Pathogenic 813335 rs1571965880 GRCh37: 1:155205470-155205470
GRCh38: 1:155235679-155235679
5 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
6 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) SNV Pathogenic 813336 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
7 LOC106627981 , GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys) SNV Pathogenic 813337 rs765633380 GRCh37: 1:155207161-155207161
GRCh38: 1:155237370-155237370
8 LOC106627981 , GBA NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) SNV Pathogenic 4298 rs74500255 GRCh37: 1:155207367-155207367
GRCh38: 1:155237576-155237576
9 LOC106627981 , GBA NM_000157.4(GBA):c.681T>G (p.Asn227Lys) SNV Pathogenic 93458 rs381418 GRCh37: 1:155208005-155208005
GRCh38: 1:155238214-155238214
10 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
11 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
12 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
13 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4297 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
14 LOC106627981 , GBA NM_000157.4(GBA):c.754T>A (p.Phe252Ile) SNV Pathogenic 4301 rs381737 GRCh37: 1:155207932-155207932
GRCh38: 1:155238141-155238141
15 LOC106627981 , GBA NM_000157.4(GBA):c.680A>G (p.Asn227Ser) SNV Pathogenic 4314 rs364897 GRCh37: 1:155208006-155208006
GRCh38: 1:155238215-155238215
16 LOC106627981 , GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) SNV Pathogenic 4327 rs121908311 GRCh37: 1:155205614-155205614
GRCh38: 1:155235823-155235823
17 LOC106627981 , GBA NM_000157.4(GBA):c.354G>C (p.Lys118Asn) SNV Pathogenic 4330 rs121908312 GRCh37: 1:155209507-155209507
GRCh38: 1:155239716-155239716
18 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4334 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
19 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
20 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
21 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
22 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
23 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
24 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
25 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
26 LOC106627981 , GBA NM_000157.4(GBA):c.1505G>A (p.Arg502His) SNV Pathogenic 21070 rs80356772 GRCh37: 1:155204986-155204986
GRCh38: 1:155235195-155235195
27 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
28 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
29 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
30 LOC106627981 , GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) SNV Pathogenic 4327 rs121908311 GRCh37: 1:155205614-155205614
GRCh38: 1:155235823-155235823
31 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
32 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
33 LOC106627981 , GBA NM_000157.4(GBA):c.222_224del (p.Thr75del) Deletion Pathogenic 642539 rs761621516 GRCh37: 1:155209760-155209762
GRCh38: 1:155239969-155239971
34 LOC106627981 , GBA NM_000157.4(GBA):c.721G>A (p.Gly241Arg) SNV Pathogenic 93459 rs409652 GRCh37: 1:155207965-155207965
GRCh38: 1:155238174-155238174
35 LOC106627981 , GBA NM_000157.4(GBA):c.703T>C (p.Ser235Pro) SNV Pathogenic 21072 rs1064644 GRCh37: 1:155207983-155207983
GRCh38: 1:155238192-155238192
36 LOC106627981 , GBA NM_000157.4(GBA):c.680A>G (p.Asn227Ser) SNV Pathogenic 4314 rs364897 GRCh37: 1:155208006-155208006
GRCh38: 1:155238215-155238215
37 LOC106627981 , GBA NM_000157.4(GBA):c.625C>T (p.Arg209Cys) SNV Pathogenic 93455 rs398123532 GRCh37: 1:155208061-155208061
GRCh38: 1:155238270-155238270
38 LOC106627981 , GBA NM_000157.4(GBA):c.508C>T (p.Arg170Cys) SNV Pathogenic 93453 rs398123530 GRCh37: 1:155208388-155208388
GRCh38: 1:155238597-155238597
39 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
40 GBA NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) Duplication Pathogenic 4302 rs387906315 GRCh37: 1:155210451-155210452
GRCh38: 1:155240660-155240661
41 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
42 LOC106627981 , GBA NM_000157.4(GBA):c.882T>G (p.His294Gln) SNV Likely pathogenic 242810 rs367968666 GRCh37: 1:155207249-155207249
GRCh38: 1:155237458-155237458
43 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) SNV Likely pathogenic 93449 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
44 LOC106627981 , GBA NM_000157.4(GBA):c.476G>A (p.Arg159Gln) SNV Likely pathogenic 4291 rs79653797 GRCh37: 1:155208420-155208420
GRCh38: 1:155238629-155238629
45 LOC106627981 , GBA NM_000157.4(GBA):c.1171G>C (p.Val391Leu) SNV Likely pathogenic 93446 rs398123527 GRCh37: 1:155206089-155206089
GRCh38: 1:155236298-155236298
46 LOC106627981 , GBA NM_000157.4(GBA):c.667T>C (p.Trp223Arg) SNV Likely pathogenic 93457 rs61748906 GRCh37: 1:155208019-155208019
GRCh38: 1:155238228-155238228
47 LOC106627981 , GBA NM_000157.4(GBA):c.637C>T (p.Leu213Phe) SNV Likely pathogenic 281587 rs374591570 GRCh37: 1:155208049-155208049
GRCh38: 1:155238258-155238258
48 LOC106627981 , GBA NM_000157.4(GBA):c.509G>A (p.Arg170His) SNV Likely pathogenic 813341 rs80356763 GRCh37: 1:155208387-155208387
GRCh38: 1:155238596-155238596
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 Iii:

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 9.95 LMBRD1 ABCD4

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 lysosome GO:0005764 9.26 PSAP LMBRD1 GBA ABCD4
2 lysosomal membrane GO:0005765 8.92 PSAP LMBRD1 GBA ABCD4

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 cobalamin metabolic process GO:0009235 8.62 LMBRD1 ABCD4

Sources for Gaucher Disease, Type Iii

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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