GD3C
MCID: GCH013
MIFTS: 39

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 57 20 13
Gaucher Disease Type 3c 12 20 58 29 6 39
Gaucher-Like Disease 12 20 58 72 70
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 12 20 58
Cardiovascular Gaucher Disease 12 20 58
Gd3c 57 12 72
Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification 20
Gaucher's Disease Type Iiic 12
Pseudo-Gaucher Disease 72
Gaucher Disease 3c 72

Characteristics:

Orphanet epidemiological data:

58
gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism


Summaries for Gaucher Disease, Type Iiic

OMIM® : 57 Gaucher disease type IIIc (GD3C) is a rare variant of subacute neuronopathic Gaucher disease type III (231000), but is considered distinct because of its association with cardiovascular calcifications (Bohlega et al., 2000). (231005) (Updated 20-May-2021)

MalaCards based summary : Gaucher Disease, Type Iiic, also known as gaucher disease type 3c, is related to gaucher disease, type i and gaucher disease, type iii. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include eye, spleen and bone marrow, and related phenotypes are corneal opacity and thrombocytopenia

Disease Ontology : 12 A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has material basis in homozygosity for an asp409-to-his (D409H) mutation in GBA on chromosome 1q22.

UniProtKB/Swiss-Prot : 72 Gaucher disease 3C: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.

Related Diseases for Gaucher Disease, Type Iiic

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:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
2 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
3 mitral valve calcification 58 31 frequent (33%) Frequent (79-30%) HP:0004382
4 aortic valve calcification 58 31 frequent (33%) Frequent (79-30%) HP:0004380
5 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
6 calcification of the aorta 58 31 frequent (33%) Frequent (79-30%) HP:0004963
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
9 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
10 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
11 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
12 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
13 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
14 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
15 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
16 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
17 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
18 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
19 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
20 spastic paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001258
21 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
22 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
23 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
24 spontaneous, recurrent epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004406
25 bilateral tonic-clonic seizure with generalized onset 31 occasional (7.5%) HP:0025190
26 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
27 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
28 delayed puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0000823
29 brachycephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000248
30 pectus excavatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000767
31 hepatic fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001395
32 cholelithiasis 58 31 very rare (1%) Very rare (<4-1%) HP:0001081
33 skin ulcer 58 31 very rare (1%) Very rare (<4-1%) HP:0200042
34 motor delay 58 31 very rare (1%) Very rare (<4-1%) HP:0001270
35 cachexia 58 31 very rare (1%) Very rare (<4-1%) HP:0004326
36 azoospermia 58 31 very rare (1%) Very rare (<4-1%) HP:0000027
37 varicose veins 58 31 very rare (1%) Very rare (<4-1%) HP:0002619
38 headache 58 31 very rare (1%) Very rare (<4-1%) HP:0002315
39 esophageal varix 58 31 very rare (1%) Very rare (<4-1%) HP:0002040
40 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
41 hyperextensible skin 58 31 very rare (1%) Very rare (<4-1%) HP:0000974
42 broad-based gait 58 31 very rare (1%) Very rare (<4-1%) HP:0002136
43 feeding difficulties 58 31 very rare (1%) Very rare (<4-1%) HP:0011968
44 gastric ulcer 58 31 very rare (1%) Very rare (<4-1%) HP:0002592
45 abnormal temper tantrums 58 31 very rare (1%) Very rare (<4-1%) HP:0025160
46 bacterial endocarditis 58 31 very rare (1%) Very rare (<4-1%) HP:0006689
47 opsoclonus 58 31 very rare (1%) Very rare (<4-1%) HP:0010543
48 poor wound healing 58 31 very rare (1%) Very rare (<4-1%) HP:0001058
49 limb ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0002070
50 papilledema 58 31 very rare (1%) Very rare (<4-1%) HP:0001085

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus

Abdomen Liver:
hepatomegaly
gaucher cells

Head And Neck Eyes:
strabismus
horizontal nystagmus
supranuclear ophthalmoplegia
hypometric horizontal saccades
slowed horizontal saccades
more
Hematology:
pancytopenia
bone marrow shows gaucher cells

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

Skeletal Feet:
pes cavus

Cardiovascular Vascular:
calcifications of the aorta

Clinical features from OMIM®:

231005 (Updated 20-May-2021)

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:

40
Eye, Spleen, Bone Marrow, Lung, Bone, Heart

Publications for Gaucher Disease, Type Iiic

Articles related to Gaucher Disease, Type Iiic:

(show all 23)
# Title Authors PMID Year
1
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 57 6
10636167 2000
2
D409H/D409H genotype in Gaucher-like disease. 57 6
9040001 1997
3
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 6 57
7475546 1995
4
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 57 6
8544197 1995
5
Gaucher disease type 3c: New patients with unique presentations and review of the literature. 57 61
31130326 2019
6
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 6
18586596 2008
7
Detection of 12 new mutations in Gaucher disease Brazilian patients. 6
17059888 2006
8
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. 6
16546416 2006
9
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 6
15214004 2004
10
Perinatal-lethal Gaucher disease. 6
12838552 2003
11
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. 57
11359469 2001
12
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. 6
11148530 2001
13
1342C mutation in Gaucher's disease. 57
7500785 1995
14
Gaucher disease in Spanish patients: analysis of eight mutations. 6
7627184 1995
15
Glucocerebrosidase mutations in Gaucher disease. 6
8790604 1994
16
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. 57
1333717 1992
17
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. 6
1899336 1991
18
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 6
1974409 1990
19
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. 6
2502917 1989
20
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. 6
3180993 1988
21
Calcification of the ascending aorta and aortic and mitral valves in Gaucher's disease. 57
6507325 1984
22
Aortic calcification in Gaucher disease: a case report. 61
30410382 2018
23
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts. 61
28585220 2017

Variations for Gaucher Disease, Type Iiic

ClinVar genetic disease variations for Gaucher Disease, Type Iiic:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106627981 , GBA NM_000157.4(GBA):c.1388+2T>C SNV Pathogenic 813335 rs1571965880 GRCh37: 1:155205470-155205470
GRCh38: 1:155235679-155235679
2 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
3 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) SNV Pathogenic 813336 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
4 LOC106627981 , GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys) SNV Pathogenic 813337 rs765633380 GRCh37: 1:155207161-155207161
GRCh38: 1:155237370-155237370
5 LOC106627981 , GBA NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) SNV Pathogenic 4298 rs74500255 GRCh37: 1:155207367-155207367
GRCh38: 1:155237576-155237576
6 LOC106627981 , GBA NM_000157.4(GBA):c.681T>G (p.Asn227Lys) SNV Pathogenic 93458 rs381418 GRCh37: 1:155208005-155208005
GRCh38: 1:155238214-155238214
7 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
8 LOC106627981 , GBA NM_000157.4(GBA):c.222_224del (p.Thr75del) Deletion Pathogenic 642539 rs761621516 GRCh37: 1:155209760-155209762
GRCh38: 1:155239969-155239971
9 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
10 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
11 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
12 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
13 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
14 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
15 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
16 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
17 LOC106627981 , GBA NM_000157.4(GBA):c.1505G>A (p.Arg502His) SNV Pathogenic 21070 rs80356772 GRCh37: 1:155204986-155204986
GRCh38: 1:155235195-155235195
18 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
19 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
20 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
21 LOC106627981 , GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) SNV Pathogenic 4327 rs121908311 GRCh37: 1:155205614-155205614
GRCh38: 1:155235823-155235823
22 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
23 LOC106627981 , GBA NM_000157.4(GBA):c.721G>A (p.Gly241Arg) SNV Pathogenic 93459 rs409652 GRCh37: 1:155207965-155207965
GRCh38: 1:155238174-155238174
24 LOC106627981 , GBA NM_000157.4(GBA):c.703T>C (p.Ser235Pro) SNV Pathogenic 21072 rs1064644 GRCh37: 1:155207983-155207983
GRCh38: 1:155238192-155238192
25 LOC106627981 , GBA NM_000157.4(GBA):c.680A>G (p.Asn227Ser) SNV Pathogenic 4314 rs364897 GRCh37: 1:155208006-155208006
GRCh38: 1:155238215-155238215
26 LOC106627981 , GBA NM_000157.4(GBA):c.625C>T (p.Arg209Cys) SNV Pathogenic 93455 rs398123532 GRCh37: 1:155208061-155208061
GRCh38: 1:155238270-155238270
27 LOC106627981 , GBA NM_000157.4(GBA):c.508C>T (p.Arg170Cys) SNV Pathogenic 93453 rs398123530 GRCh37: 1:155208388-155208388
GRCh38: 1:155238597-155238597
28 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
29 GBA NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) Duplication Pathogenic 4302 rs387906315 GRCh37: 1:155210451-155210452
GRCh38: 1:155240660-155240661
30 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
31 LOC106627981 , GBA NM_000157.4(GBA):c.882T>G (p.His294Gln) SNV Likely pathogenic 242810 rs367968666 GRCh37: 1:155207249-155207249
GRCh38: 1:155237458-155237458
32 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) SNV Likely pathogenic 93449 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
33 LOC106627981 , GBA NM_000157.4(GBA):c.1171G>C (p.Val391Leu) SNV Likely pathogenic 93446 rs398123527 GRCh37: 1:155206089-155206089
GRCh38: 1:155236298-155236298
34 LOC106627981 , GBA NM_000157.4(GBA):c.476G>A (p.Arg159Gln) SNV Likely pathogenic 4291 rs79653797 GRCh37: 1:155208420-155208420
GRCh38: 1:155238629-155238629
35 LOC106627981 , GBA NM_000157.4(GBA):c.637C>T (p.Leu213Phe) SNV Likely pathogenic 281587 rs374591570 GRCh37: 1:155208049-155208049
GRCh38: 1:155238258-155238258
36 LOC106627981 , GBA NM_000157.4(GBA):c.509G>A (p.Arg170His) SNV Likely pathogenic 813341 rs80356763 GRCh37: 1:155208387-155208387
GRCh38: 1:155238596-155238596
37 LOC106627981 , GBA NM_000157.4(GBA):c.946C>T (p.Arg316Cys) SNV Likely pathogenic 813338 rs1264734195 GRCh37: 1:155207185-155207185
GRCh38: 1:155237394-155237394
38 LOC106627981 , GBA NM_000157.4(GBA):c.929G>A (p.Ser310Asn) SNV Likely pathogenic 813339 rs74731340 GRCh37: 1:155207202-155207202
GRCh38: 1:155237411-155237411
39 LOC106627981 , GBA NM_000157.4(GBA):c.913C>G (p.Pro305Ala) SNV Likely pathogenic 813340 rs770796008 GRCh37: 1:155207218-155207218
GRCh38: 1:155237427-155237427
40 LOC106627981 , GBA NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) SNV Likely pathogenic 420153 rs374306700 GRCh37: 1:155206158-155206158
GRCh38: 1:155236367-155236367
41 LOC106627981 , GBA NM_000157.4(GBA):c.1316G>A (p.Ser439Asn) SNV Uncertain significance 694729 rs1571966221 GRCh37: 1:155205544-155205544
GRCh38: 1:155235753-155235753

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

72
# Symbol AA change Variation ID SNP ID
1 GBA p.Asp448His VAR_003313 rs1064651

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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11 DGIdb
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