GD3C
MCID: GCH013
MIFTS: 32

Gaucher Disease, Type Iiic (GD3C)

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

Aliases & Classifications for Gaucher Disease, Type Iiic

MalaCards integrated aliases for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 58 13
Gaucher Disease Type 3c 60 30 6 41
Gaucher-Like Disease 60 76 74
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 60
Cardiovascular Gaucher Disease 60
Pseudo-Gaucher Disease 76
Gaucher Disease 3c 76
Gd3c 76

Characteristics:

Orphanet epidemiological data:

60
gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
gaucher disease, type iiic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type Iiic

UniProtKB/Swiss-Prot : 76 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 disease type 3c, is related to pseudo-gaucher disease and gaucher disease - ophthalmoplegia - cardiovascular calcification. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include heart, bone and eye, and related phenotypes are splenomegaly and supranuclear ophthalmoplegia

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 12.4
2 gaucher disease - ophthalmoplegia - cardiovascular calcification 11.4
3 gaucher disease, type i 11.4
4 gaucher disease, type iii 11.4
5 gaucher's disease 10.1
6 gaucher disease, type ii 9.9
7 gaucher disease, perinatal lethal 9.9

Graphical network of the top 20 diseases related to Gaucher Disease, Type Iiic:



Diseases related to Gaucher Disease, Type Iiic

Symptoms & Phenotypes for Gaucher Disease, Type Iiic

Human phenotypes related to Gaucher Disease, Type Iiic:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 supranuclear ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000623
3 calcification of the aorta 60 33 hallmark (90%) Very frequent (99-80%) HP:0004963
4 reticular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007588
5 slowed horizontal saccades 60 33 hallmark (90%) Very frequent (99-80%) HP:0007885
6 mitral valve calcification 33 hallmark (90%) HP:0004382
7 aortic valve calcification 33 hallmark (90%) HP:0004380
8 abnormal aortic arch morphology 33 hallmark (90%) HP:0012303
9 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
10 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
11 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
12 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
13 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
14 hepatomegaly 33 HP:0002240
15 cardiomegaly 33 HP:0001640
16 pancytopenia 33 HP:0001876
17 abnormality of the heart valves 60 Very frequent (99-80%)
18 opacification of the corneal stroma 33 HP:0007759
19 strabismus 33 HP:0000486
20 abnormality of saccadic eye movements 60 Very frequent (99-80%)
21 pes cavus 33 HP:0001761
22 abnormality of the aortic arch 60 Very frequent (99-80%)
23 horizontal nystagmus 33 HP:0000666
24 mitral stenosis 33 HP:0001718
25 calcific aortic valve stenosis 60 Very frequent (99-80%)
26 calcific mitral stenosis 60 Very frequent (99-80%)
27 hypometric horizontal saccades 33 HP:0007975

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
seizures

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
horizontal nystagmus
supranuclear ophthalmoplegia
slowed horizontal saccades
hypometric horizontal saccades
more
Cardiovascular Vascular:
calcifications of the aorta

Clinical features from OMIM:

231005

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 30 GBA

Anatomical Context for Gaucher Disease, Type Iiic

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

42
Heart, Bone, Eye, Bone Marrow, Liver, Spleen

Publications for Gaucher Disease, Type Iiic

Articles related to Gaucher Disease, Type Iiic:

(show all 12)
# Title Authors Year
1
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. ( 18586596 )
2008
2
Perinatal-lethal Gaucher disease. ( 12838552 )
2003
3
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. ( 11148530 )
2001
4
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). ( 10636167 )
2000
5
D409H/D409H genotype in Gaucher-like disease. ( 9040001 )
1997
6
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. ( 7475546 )
1995
7
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. ( 8544197 )
1995
8
Gaucher disease in Spanish patients: analysis of eight mutations. ( 7627184 )
1995
9
Glucocerebrosidase mutations in Gaucher disease. ( 8790604 )
1994
10
Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. ( 1333717 )
1992
11
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. ( 1974409 )
1990
12
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. ( 2502917 )
1989

Variations for Gaucher Disease, Type Iiic

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

76
# Symbol AA change Variation ID SNP ID
1 GBA p.Asp448His VAR_003313 rs1064651

ClinVar genetic disease variations for Gaucher Disease, Type Iiic:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
2 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
3 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
4 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh38 Chromosome 1, 155235772: 155235772
5 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
6 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727
7 GBA NM_001005741.2(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
8 GBA NM_001005741.2(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh38 Chromosome 1, 155235196: 155235196
9 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
10 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh38 Chromosome 1, 155235002: 155235002
11 GBA NM_001005741.2(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
12 GBA NM_001005741.2(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh38 Chromosome 1, 155237453: 155237453
13 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
14 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh38 Chromosome 1, 155240629: 155240629

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

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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