MCID: GCH013
MIFTS: 29

Gaucher Disease, Type Iiic

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

Aliases & Classifications for Gaucher Disease, Type Iiic

MalaCards integrated aliases for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 53 13
Gaucher-Like Disease 55 71 69
Gaucher Disease Type 3c 55 28
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 55
Cardiovascular Gaucher Disease 55
Pseudo-Gaucher Disease 71
Gaucher Disease 3c 71
Gd3c 71

Characteristics:

Orphanet epidemiological data:

55
gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
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:

31
gaucher disease, type iiic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 231005
Orphanet 55 ORPHA2072
UMLS via Orphanet 70 C2931585 C1856476
ICD10 via Orphanet 33 E75.2
MedGen 39 C1856476
MeSH 41 D005776
UMLS 69 C2931585

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 seizures, hydrocephalus and splenomegaly. 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:

# Related Disease Score Top Affiliating Genes
1 pseudo-gaucher disease 12.2
2 gaucher disease - ophthalmoplegia - cardiovascular calcification 11.2
3 gaucher disease, type i 11.2
4 gaucher disease, type iii 11.2

Symptoms & Phenotypes for Gaucher Disease, Type Iiic

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hydrocephalus

Abdomen Liver:
hepatomegaly
gaucher cells

Hematology:
pancytopenia
bone marrow shows gaucher cells

Skeletal Feet:
pes cavus

Laboratory Abnormalities:
decreased beta-glucosidase protein and activity

Abdomen Spleen:
splenomegaly
gaucher cells

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

Head And Neck Eyes:
strabismus
supranuclear ophthalmoplegia
slowed horizontal saccades
horizontal nystagmus
corneal opacities
more
Cardiovascular Vascular:
calcifications of the aorta


Clinical features from OMIM:

231005

Human phenotypes related to Gaucher Disease, Type Iiic:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 Frequent (79-30%) HP:0001250
2 hydrocephalus 55 31 Frequent (79-30%) HP:0000238
3 splenomegaly 55 31 Very frequent (99-80%) HP:0001744
4 supranuclear ophthalmoplegia 55 31 Very frequent (99-80%) HP:0000623
5 calcification of the aorta 55 31 Very frequent (99-80%) HP:0004963
6 slowed horizontal saccades 55 31 Very frequent (99-80%) HP:0007885
7 hearing impairment 55 Frequent (79-30%)
8 hepatomegaly 31 HP:0002240
9 hypertonia 55 Frequent (79-30%)
10 cardiomegaly 31 HP:0001640
11 pancytopenia 31 HP:0001876
12 abnormality of the heart valves 55 Very frequent (99-80%)
13 opacification of the corneal stroma 31 HP:0007759
14 strabismus 31 HP:0000486
15 congestive heart failure 55 Occasional (29-5%)
16 pes cavus 31 HP:0001761
17 mitral valve calcification 31 HP:0004382
18 abnormality of the aortic arch 55 Very frequent (99-80%)
19 aortic valve calcification 31 HP:0004380
20 abnormality of saccadic eye movements 55 Very frequent (99-80%)
21 calcific aortic valve stenosis 55 Very frequent (99-80%)
22 reticular hyperpigmentation 55 Very frequent (99-80%)
23 calcific mitral stenosis 55 Very frequent (99-80%)
24 horizontal nystagmus 31 HP:0000666
25 hypometric horizontal saccades 31 HP:0007975

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:

# Genetic test Affiliating Genes
1 Gaucher Disease Type 3c 28 GBA

Anatomical Context for Gaucher Disease, Type Iiic

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

38
Eye, Heart, Bone, Bone Marrow

Publications for Gaucher Disease, Type Iiic

Articles related to Gaucher Disease, Type Iiic:

# Title Authors Year
1
D409H/D409H genotype in Gaucher-like disease. ( 9040001 )
1997

Variations for Gaucher Disease, Type Iiic

ClinVar genetic disease variations for Gaucher Disease, Type Iiic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
2 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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