MCID: GCH017
MIFTS: 34

Gaucher Disease, Type Iii malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases categories

Summaries for Gaucher Disease, Type Iii

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OMIM:45 Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower... (231000) more...

MalaCards based summary: Gaucher Disease, Type Iii, also known as gaucher disease, subacute neuronopathic type, is related to fucosidosis and aspartylglucosaminuria, and has symptoms including strabismus, ophthalmoparesis and splenomegaly. An important gene associated with Gaucher Disease, Type Iii is GBA (glucosidase, beta, acid). Affiliated tissues include bone, bone marrow and eye.

Aliases & Classifications for Gaucher Disease, Type Iii

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Sources:
45OMIM, 10diseasecard, 63Wikipedia, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Gaucher Disease, Type Iii, Aliases & Descriptions:

Name: Gaucher Disease, Type Iii 45 10
Gaucher Disease, Subacute Neuronopathic Type 41 47 22
Type 3 Gaucher Disease 63 20 43
Gaucher Disease Type 3 63 41 47
Cerebral Juvenile and Adult Form of Gaucher Disease 41 47
Chronic Neuronopathic Gaucher Disease 41 47
 
Gaucher Disease, Juvenile and Adult, Cerebral 41
Gaucher Disease, Chronic Neuronopathic Type 41
Subacute Neuronopathic Gaucher Disease 63
Norrbottnian Gaucher Disease 63
Gaucher Disease, Type 3 60
Gd 3 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
gaucher disease, subacute neuronopathic type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages


External Ids:

OMIM45 231000
Orphanet47 77261
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0268251

Related Diseases for Gaucher Disease, Type Iii

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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:

idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis10.2
2aspartylglucosaminuria10.2
3metachromatic leukodystrophy10.2
4adrenoleukodystrophy10.2
5mannosidosis10.2
6central nervous system disease10.2
7leukodystrophy10.2
8nervous system disease10.2
9gaucher's disease10.2

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



Diseases related to gaucher disease, type iii

Symptoms for Gaucher Disease, Type Iii

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Symptoms by clinical synopsis from OMIM:

231000

Clinical features from OMIM:

231000

Symptoms:

 47 (show all 34)
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • osteosclerosis/osteopetrosis/bone condensation
  • mutiple fractures/bone fragility
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteonecrosis/bone infarction
  • bone pain
  • asthenia/fatigue/weakness
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • delayed bone age
  • hypergammaglobulinemia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • bone marrow failure/pancytopenia
  • anaemia
  • leukopenia/hypoleukocytosis
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hydrops fetalis
  • pulmonary hypertension
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • repeat respiratory infections
  • cardiac valvulopathy
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • myocardium anomalies/myocarditis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • proteinuria
  • hematuria/microhematuria

HPO human phenotypes related to Gaucher Disease, Type Iii:

(show all 51)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 ophthalmoparesis hallmark (90%) HP:0000597
3 splenomegaly hallmark (90%) HP:0001744
4 hepatomegaly hallmark (90%) HP:0002240
5 bone pain hallmark (90%) HP:0002653
6 recurrent fractures hallmark (90%) HP:0002757
7 osteolysis hallmark (90%) HP:0002797
8 aseptic necrosis hallmark (90%) HP:0010885
9 increased bone mineral density hallmark (90%) HP:0011001
10 seizures typical (50%) HP:0001250
11 hypertonia typical (50%) HP:0001276
12 gait disturbance typical (50%) HP:0001288
13 hydrops fetalis typical (50%) HP:0001789
14 thrombocytopenia typical (50%) HP:0001873
15 leukopenia typical (50%) HP:0001882
16 anemia typical (50%) HP:0001903
17 incoordination typical (50%) HP:0002311
18 developmental regression typical (50%) HP:0002376
19 delayed skeletal maturation typical (50%) HP:0002750
20 bone marrow hypocellularity typical (50%) HP:0005528
21 hypergammaglobulinemia typical (50%) HP:0010702
22 proteinuria occasional (7.5%) HP:0000093
23 hematuria occasional (7.5%) HP:0000790
24 abnormality of the myocardium occasional (7.5%) HP:0001637
25 abnormality of the aortic valve occasional (7.5%) HP:0001646
26 abnormality of the pericardium occasional (7.5%) HP:0001697
27 restrictive lung disease occasional (7.5%) HP:0002091
28 pulmonary hypertension occasional (7.5%) HP:0002092
29 recurrent respiratory infections occasional (7.5%) HP:0002205
30 autosomal recessive inheritance HP:0000007
31 strabismus HP:0000486
32 depression HP:0000716
33 dementia HP:0000726
34 ataxia HP:0001251
35 motor delay HP:0001270
36 myoclonus HP:0001336
37 splenomegaly HP:0001744
38 thrombocytopenia HP:0001873
39 pancytopenia HP:0001876
40 generalized myoclonic seizures HP:0002123
41 neurological speech impairment HP:0002167
42 hepatomegaly HP:0002240
43 spastic paraparesis HP:0002313
44 progressive neurologic deterioration HP:0002344
45 adult onset HP:0003581
46 decreased beta-glucocerebrosidase protein and activity HP:0003656
47 phenotypic variability HP:0003812
48 short stature HP:0004322
49 decreased body weight HP:0004325
50 vascular calcification HP:0004934
51 horizontal supranuclear gaze palsy HP:0007817

Drugs & Therapeutics for Gaucher Disease, Type Iii

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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Type Iii

Search NIH Clinical Center for Gaucher Disease, Type Iii

Genetic Tests for Gaucher Disease, Type Iii

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Genetic tests related to Gaucher Disease, Type Iii:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 3 (subacute/chronic)20
2 Subacute Neuronopathic Gaucher's Disease22

Anatomical Context for Gaucher Disease, Type Iii

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

31
Bone, Bone marrow, Eye, Liver, Lung

Animal Models for Gaucher Disease, Type Iii or affiliated genes

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Publications for Gaucher Disease, Type Iii

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Articles related to Gaucher Disease, Type Iii:

idTitleAuthorsYear
1
Pulmonary involvement in siblings with Gaucher disease type III. (22352271)
2011
2
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. (10226749)
1999
3
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type). (1508850)
1992

Variations for Gaucher Disease, Type Iii

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

62
id Symbol AA change Variation ID SNP ID
1GBAp.Val437LeuVAR_010070
2GBAp.Thr530IleVAR_010075

Clinvar genetic disease variations for Gaucher Disease, Type Iii:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
3GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
4GBANM_001005741.2(GBA): c.1343A> T (p.Asp448Val)single nucleotide variantPathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
5GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
6GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
7GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
8GBANM_001005741.2(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
9GBANM_001005741.2(GBA): c.1174C> G (p.Arg392Gly)single nucleotide variantPathogenicrs121908308GRCh37Chr 1, 155206086: 155206086
10GBANM_001005741.2(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
11GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
12GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
13GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
14GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease, Type Iii

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

Pathways for genes affiliated with Gaucher Disease, Type Iii

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Compounds for genes affiliated with Gaucher Disease, Type Iii

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GO Terms for genes affiliated with Gaucher Disease, Type Iii

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Products for genes affiliated with Gaucher Disease, Type Iii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gaucher Disease, Type Iii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet