MCID: GCH016
MIFTS: 31

Gaucher Disease, Type Ii malady

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

Summaries for Gaucher Disease, Type Ii

About this section


NIH Rare Diseases:41 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. liver and spleen enlargement are often apparent by 3 months of age. patients typically develop extensive and progressive brain damage and many die by 2 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, there is no effective treatment for the severe brain damage that may occur in patients with this condition. last updated: 2/22/2010

MalaCards based summary: Gaucher Disease, Type Ii, also known as gaucher disease type 2, is related to gaucher's disease and neuronitis, and has symptoms including strabismus, ophthalmoparesis and hypertonia. An important gene associated with Gaucher Disease, Type Ii is GBA (glucosidase, beta, acid). Affiliated tissues include liver, lung and bone marrow.

OMIM:45 Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years... (230900) more...

Aliases & Classifications for Gaucher Disease, Type Ii

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

Gaucher Disease, Type Ii, Aliases & Descriptions:

Name: Gaucher Disease, Type Ii 45 10 43
Gaucher Disease Type 2 63 41 47
Type 2 Gaucher Disease 63 20 43
Gaucher Disease, Acute Neuronopathic Type 41 22
Acute Neuronopathic Gaucher Disease 41 47
Infantile Cerebral Gaucher Disease 41 47
 
Infantile Cerebral Gaucher's Disease 63
Gaucher Disease, Infantile Cerebral 41
Acute Cerebral Gaucher's Disease 63
Infantile Gaucher Disease 63
Gaucher Disease, Type 2 60
Gd 2 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
gaucher disease type 2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM45 230900
Orphanet47 77260
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0268250

Related Diseases for Gaucher Disease, Type Ii

About this section

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:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher's disease10.3
2neuronitis10.3
3gaucher disease, type iii10.2
4hemophagocytic lymphohistiocytosis10.2
5osteomyelitis10.2
6neuroblastoma10.1

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



Diseases related to gaucher disease, type ii

Symptoms for Gaucher Disease, Type Ii

About this section

Symptoms by clinical synopsis from OMIM:

230900

Clinical features from OMIM:

230900

Symptoms:

 47 (show all 15)
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • respiratory rhythm disorder
  • hypertonia/spasticity/rigidity/stiffness
  • early death/lethality
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • repeat respiratory infections
  • seizures/epilepsy/absences/spasms/status epilepticus
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

HPO human phenotypes related to Gaucher Disease, Type Ii:

(show all 35)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 ophthalmoparesis hallmark (90%) HP:0000597
3 hypertonia hallmark (90%) HP:0001276
4 splenomegaly hallmark (90%) HP:0001744
5 weight loss hallmark (90%) HP:0001824
6 hepatomegaly hallmark (90%) HP:0002240
7 abnormal pattern of respiration hallmark (90%) HP:0002793
8 seizures typical (50%) HP:0001250
9 flexion contracture typical (50%) HP:0001371
10 respiratory insufficiency typical (50%) HP:0002093
11 recurrent respiratory infections typical (50%) HP:0002205
12 sudden cardiac death occasional (7.5%) HP:0001645
13 autosomal recessive inheritance HP:0000007
14 trismus HP:0000211
15 strabismus HP:0000486
16 esotropia HP:0000565
17 oculomotor apraxia HP:0000657
18 seizures HP:0001250
19 spasticity HP:0001257
20 global developmental delay HP:0001263
21 hyperreflexia HP:0001347
22 failure to thrive HP:0001508
23 protuberant abdomen HP:0001538
24 splenomegaly HP:0001744
25 thrombocytopenia HP:0001873
26 anemia HP:0001903
27 dysphagia HP:0002015
28 cerebral atrophy HP:0002059
29 rigidity HP:0002063
30 recurrent aspiration pneumonia HP:0002100
31 apnea HP:0002104
32 hepatomegaly HP:0002240
33 progressive neurologic deterioration HP:0002344
34 bulbar signs HP:0002483
35 feeding difficulties HP:0011968

Drugs & Therapeutics for Gaucher Disease, Type Ii

About this section

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Type Ii

Search NIH Clinical Center for Gaucher Disease, Type Ii

Genetic Tests for Gaucher Disease, Type Ii

About this section

Genetic tests related to Gaucher Disease, Type Ii:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 2 (acute)20
2 Acute Neuronopathic Gaucher's Disease22

Anatomical Context for Gaucher Disease, Type Ii

About this section

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

31
Liver, Lung, Bone marrow, Bone, Spleen, Brain, Eye

Animal Models for Gaucher Disease, Type Ii or affiliated genes

About this section

Publications for Gaucher Disease, Type Ii

About this section

Variations for Gaucher Disease, Type Ii

About this section

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

62
id Symbol AA change Variation ID SNP ID
1GBAp.Leu483ProVAR_003321
2GBAp.Glu80LysVAR_009033rs1141808
3GBAp.Arg170CysVAR_009035
4GBAp.Asp513TyrVAR_009050

Clinvar genetic disease variations for Gaucher Disease, Type Ii:

6 (show all 13)
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.1361C> G (p.Pro454Arg)single nucleotide variantPathogenicrs121908295GRCh37Chr 1, 155205499: 155205499
3GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
4GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
5GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
6GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
7GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
8GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
9GBANM_001005741.2(GBA): c.1090G> A (p.Gly364Arg)single nucleotide variantPathogenicrs121908305GRCh37Chr 1, 155206170: 155206170
10GBANM_001005741.2(GBA): c.1141T> G (p.Cys381Gly)single nucleotide variantPathogenicrs121908306GRCh37Chr 1, 155206119: 155206119
11GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
12GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
13GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease, Type Ii

About this section
Search GEO for disease gene expression data for Gaucher Disease, Type Ii.

Pathways for genes affiliated with Gaucher Disease, Type Ii

About this section

Compounds for genes affiliated with Gaucher Disease, Type Ii

About this section

GO Terms for genes affiliated with Gaucher Disease, Type Ii

About this section

Products for genes affiliated with Gaucher Disease, Type Ii

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gaucher Disease, Type Ii

About this section
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