MCID: GCH013
MIFTS: 29

Gaucher Disease, Type Iiic

Categories: Genetic diseases, Eye diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Respiratory diseases, Bone diseases

Aliases & Classifications for Gaucher Disease, Type Iiic

MalaCards integrated aliases for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 54 13
Gaucher-Like Disease 56 71 69
Gaucher Disease Type 3c 56 29
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 56
Cardiovascular Gaucher Disease 56
Pseudo-Gaucher Disease 71
Gaucher Disease 3c 71
Gd3c 71

Characteristics:

Orphanet epidemiological data:

56
gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset of abnormal eye movements in early childhood
onset of cardiac symptoms in adolescence
cardiac manifestations are often fatal
visceral manifestations are less apparent
considered to be a variant of gaucher disease type iii
associated specifically with the gba d409h mutation


HPO:

32
gaucher disease, type iiic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type Iiic

UniProtKB/Swiss-Prot : 71 Gaucher disease 3C: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.

MalaCards based summary : Gaucher Disease, Type Iiic, also known as gaucher-like disease, is related to pseudo-gaucher disease and gaucher disease - ophthalmoplegia - cardiovascular calcification, and has symptoms including splenomegaly, seizures and hydrocephalus. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include eye, heart and bone.

Description from OMIM: 231005

Related Diseases for Gaucher Disease, Type Iiic

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

id Related Disease Score Top Affiliating Genes
1 pseudo-gaucher disease 12.1
2 gaucher disease - ophthalmoplegia - cardiovascular calcification 11.1
3 gaucher disease, type i 11.1
4 gaucher disease, type iii 11.1

Symptoms & Phenotypes for Gaucher Disease, Type Iiic

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
strabismus
horizontal nystagmus
corneal opacities
supranuclear ophthalmoplegia
slowed horizontal saccades
more
Abdomen- Spleen:
splenomegaly
gaucher cells

Cardiovascular- Heart:
cardiomegaly
aortic stenosis due to calcifications
mitral stenosis due to calcifications
calcifications of the cardiac valves

Hematology:
pancytopenia
bone marrow shows gaucher cells

Laboratory- Abnormalities:
decreased beta-glucosidase protein and activity

Abdomen- Liver:
hepatomegaly
gaucher cells

Neurologic- Central Nervous System:
seizures
hydrocephalus

Skeletal- Feet:
pes cavus

Cardiovascular- Vascular:
calcifications of the aorta


Clinical features from OMIM:

231005

Human phenotypes related to Gaucher Disease, Type Iiic:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
4 supranuclear ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000623
5 slowed horizontal saccades 56 32 Very frequent (99-80%) HP:0007885
6 calcification of the aorta 56 32 Very frequent (99-80%) HP:0004963
7 calcific aortic valve stenosis 56 32 Very frequent (99-80%) HP:0005173
8 calcific mitral stenosis 56 32 Very frequent (99-80%) HP:0200129
9 strabismus 32 HP:0000486
10 horizontal nystagmus 32 HP:0000666
11 hepatomegaly 32 HP:0002240
12 hypertonia 56 Frequent (79-30%)
13 cardiomegaly 32 HP:0001640
14 pes cavus 32 HP:0001761
15 pancytopenia 32 HP:0001876
16 hypometric horizontal saccades 32 HP:0007975
17 congestive heart failure 56 Occasional (29-5%)
18 hearing impairment 56 Frequent (79-30%)
19 abnormality of the heart valves 56 Very frequent (99-80%)
20 opacification of the corneal stroma 32 HP:0007759
21 abnormality of the aortic arch 56 Very frequent (99-80%)
22 abnormality of saccadic eye movements 56 Very frequent (99-80%)
23 reticular hyperpigmentation 56 Very frequent (99-80%)

Drugs & Therapeutics for Gaucher Disease, Type Iiic

Search Clinical Trials , NIH Clinical Center for Gaucher Disease, Type Iiic

Genetic Tests for Gaucher Disease, Type Iiic

Genetic tests related to Gaucher Disease, Type Iiic:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 3c 29

Anatomical Context for Gaucher Disease, Type Iiic

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

39
Eye, Heart, Bone, Bone Marrow

Publications for Gaucher Disease, Type Iiic

Variations for Gaucher Disease, Type Iiic

ClinVar genetic disease variations for Gaucher Disease, Type Iiic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518

Expression for Gaucher Disease, Type Iiic

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

Pathways for Gaucher Disease, Type Iiic

GO Terms for Gaucher Disease, Type Iiic

Sources for Gaucher Disease, Type Iiic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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