MCID: GCH013
MIFTS: 28

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 57 13
Gaucher Disease Type 3c 59 29 6 40
Gaucher-Like Disease 59 75 73
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 59
Cardiovascular Gaucher Disease 59
Pseudo-Gaucher Disease 75
Gaucher Disease 3c 75
Gd3c 75

Characteristics:

Orphanet epidemiological data:

59
gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:



External Ids:

OMIM 57 231005
Orphanet 59 ORPHA2072
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 74 C2931585 C1856476
MedGen 42 C1856476
MeSH 44 D005776
UMLS 73 C2931585

Summaries for Gaucher Disease, Type Iiic

UniProtKB/Swiss-Prot : 75 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 eye, heart and bone, and related phenotypes are hydrocephalus 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 12.2
2 gaucher disease - ophthalmoplegia - cardiovascular calcification 11.2
3 gaucher disease, type i 11.2
4 gaucher disease, type iii 11.2
5 gaucher's disease 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

Human phenotypes related to Gaucher Disease, Type Iiic:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 Frequent (79-30%) HP:0000238
2 supranuclear ophthalmoplegia 59 32 Very frequent (99-80%) HP:0000623
3 seizures 59 32 Frequent (79-30%) HP:0001250
4 splenomegaly 59 32 Very frequent (99-80%) HP:0001744
5 calcification of the aorta 59 32 Very frequent (99-80%) HP:0004963
6 slowed horizontal saccades 59 32 Very frequent (99-80%) HP:0007885
7 hearing impairment 59 Frequent (79-30%)
8 abnormality of saccadic eye movements 59 Very frequent (99-80%)
9 hypertonia 59 Frequent (79-30%)
10 congestive heart failure 59 Occasional (29-5%)
11 abnormality of the heart valves 59 Very frequent (99-80%)
12 calcific aortic valve stenosis 59 Very frequent (99-80%)
13 reticular hyperpigmentation 59 Very frequent (99-80%)
14 abnormality of the aortic arch 59 Very frequent (99-80%)
15 calcific mitral stenosis 59 Very frequent (99-80%)
16 strabismus 32 HP:0000486
17 horizontal nystagmus 32 HP:0000666
18 cardiomegaly 32 HP:0001640
19 pes cavus 32 HP:0001761
20 pancytopenia 32 HP:0001876
21 hepatomegaly 32 HP:0002240
22 aortic valve calcification 32 HP:0004380
23 mitral valve calcification 32 HP:0004382
24 opacification of the corneal stroma 32 HP:0007759
25 hypometric horizontal saccades 32 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 29 GBA

Anatomical Context for Gaucher Disease, Type Iiic

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

41
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_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
3 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
4 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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