GD 3
MCID: GCH005
MIFTS: 37

Gaucher Disease Type 3 (GD 3) malady

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

Summaries for Gaucher Disease Type 3

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Gaucher Disease Type 3, also known as gaucher disease, subacute neuronopathic type, is related to adrenoleukodystrophy and metachromatic leukodystrophy, and has symptoms including pulmonary hypertension, hydrops fetalis and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Gaucher Disease Type 3 is GBA (glucosidase, beta, acid). Affiliated tissues include bone, eye and liver.

Description from OMIM:48 231000

Aliases & Classifications for Gaucher Disease Type 3

About this section
Sources:
66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
gaucher disease, subacute neuronopathic type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

gaucher disease type 3 66 44 50
gaucher disease, subacute neuronopathic type 44 23 50
type 3 gaucher disease 66 21 46
cerebral juvenile and adult form of gaucher disease 50
gaucher disease, juvenile and adult, cerebral 44
gaucher disease, chronic neuronopathic type 44
subacute neuronopathic gaucher disease 66
chronic neuronopathic gaucher disease 50
norrbottnian gaucher disease 66
gaucher disease, type iii 48
gaucher disease, type 3 63
gd 3 44


External Ids:

OMIM48 231000
ICD10 via Orphanet27 E75.2
SNOMED-CT via Orphanet60 5963005
UMLS via Orphanet64 C0268251

Related Diseases for Gaucher Disease Type 3

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Gaucher's Disease family:

Gaucher Disease Type 1 Gaucher Disease Type 2
Pseudo-Gaucher Disease gaucher disease type 3
Gaucher Disease, Type Iiic

Diseases related to Gaucher Disease Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1adrenoleukodystrophy10.2
2metachromatic leukodystrophy10.2
3sly syndrome10.2
4aspartylglucosaminuria10.2
5fucosidosis10.2
6central nervous system disease10.2
7leukodystrophy10.2
8nervous system disease10.2
9ocular motor apraxia, cogan type10.2
10gaucher's disease10.1

Graphical network of diseases related to Gaucher Disease Type 3:



Diseases related to gaucher disease type 3

Symptoms for Gaucher Disease Type 3

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

231000

Clinical features from OMIM:

231000

Symptoms:

50 (show all 34)
  • pulmonary hypertension
  • hydrops fetalis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • thrombocytopenia/thrombopenia
  • leukopenia/hypoleukocytosis
  • anaemia
  • 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
  • bone marrow failure/pancytopenia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • 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
  • abnormal eye movements/oculomotor disorder

Drugs & Therapeutics for Gaucher Disease Type 3

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Gaucher Disease Type 3

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Type 3

Search NIH Clinical Center for Gaucher Disease Type 3

Search CenterWatch for Gaucher Disease Type 3

Genetic Tests for Gaucher Disease Type 3

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Gaucher Disease Type 3:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 3 (subacute/chronic)21
2 Subacute Neuronopathic Gaucher's Disease23

Anatomical Context for Gaucher Disease Type 3

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Gaucher Disease Type 3:

34
Bone, Eye, Liver, Bone marrow

Animal Models for Gaucher Disease Type 3 or affiliated genes

About this section

Publications for Gaucher Disease Type 3

About this section
Sources:
53PubMed
See all sources

Articles related to Gaucher Disease Type 3:

idTitleAuthorsYear
1
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. (18347322)
2008
2
Audiometric abnormalities in children with Gaucher disease type 3. (11521209)
2001

Variations for Gaucher Disease Type 3

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease Type 3:

65
id Symbol AA change Variation ID SNP ID
1GBAp.Val437LeuVAR_010070
2GBAp.Thr530IleVAR_010075

Clinvar genetic disease variations for Gaucher Disease Type 3:

1 (show all 14)
id Gene Name 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 variantPathogenic, Uncertain significancers364897GRCh37Chr 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 variantBenign, Pathogenicrs368060GRCh37Chr 1, 155205008: 155205008
14GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantBenign, Pathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease Type 3

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gaucher Disease Type 3

Search GEO for disease gene expression data for Gaucher Disease Type 3.

Pathways for genes affiliated with Gaucher Disease Type 3

About this section

Compounds for genes affiliated with Gaucher Disease Type 3

About this section

GO Terms for genes affiliated with Gaucher Disease Type 3

About this section

Products for genes affiliated with Gaucher Disease Type 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 3

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet