MCID: GLC012
MIFTS: 53

Galactosialidosis

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

Aliases & Classifications for Galactosialidosis

MalaCards integrated aliases for Galactosialidosis:

Name: Galactosialidosis 57 53 25 59 75 37 13 40 73
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 57 53 25 59 75
Goldberg Syndrome 57 53 25 59 75
Ppca Deficiency 57 53 25 75
Lysosomal Protective Protein Deficiency 57 25 75
Gsl 57 53 75
Neuraminidase/beta-Galactosidase Expression 57 53
Protective Protein/cathepsin a Deficiency 57 53
Cathepsin a Deficiency 57 75
Neuraminidase/beta-Galactosidase Expression; Ngbe 57
Neuraminidase Beta-Galactosidase Deficiency 76
Lysosomal Protective Protein Deficiency of 53
Protective Protein Cathepsin a Deficiency 75
Cathepsin a Deficiency of 53
Deficiency of Cathepsin a 25
Cathepsin a 13
Ngbe 57

Characteristics:

Orphanet epidemiological data:

59
galactosialidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
galactosialidosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galactosialidosis

OMIM : 57 Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458) and neuraminidase (608272), secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin (summary by d'Azzo et al., 2001). (256540)

MalaCards based summary : Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to gangliosidosis gm1 and lysosomal storage disease. An important gene associated with Galactosialidosis is CTSA (Cathepsin A), and among its related pathways/superpathways are Lysosome and Sphingolipid metabolism. The drug Krestin has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Galactosialidosis: A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival.

NIH Rare Diseases : 53 Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.

Genetics Home Reference : 25 Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.

Wikipedia : 76 Galactosialidosis is a lysosomal storage disease. This condition is rare and most cases have been in the... more...

Related Diseases for Galactosialidosis

Diseases related to Galactosialidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis gm1 29.7 GLB1 NEU1
2 lysosomal storage disease 29.2 CTSA GLB1 NEU1
3 shprintzen-goldberg craniosynostosis syndrome 12.1
4 omphalocele, autosomal 10.9
5 neuroblastoma 10.5
6 clear cell adenocarcinoma of the ovary 10.1 NEU1 NEU3
7 inclusion-cell disease 10.0 CTSA GLB1
8 gangliosidosis gm2 10.0 CTSA GLB1
9 neuraminidase deficiency 10.0
10 newcastle disease 10.0
11 craniosynostosis 10.0
12 scheie syndrome 9.9 CTSA GLB1
13 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
14 angiokeratoma 9.9
15 fetal edema 9.9
16 hydrops fetalis 9.9
17 aortic aneurysm 9.9
18 aneurysm 9.9
19 mucolipidosis iv 9.8 CTSA GLB1
20 mucopolysaccharidosis iv 9.8 CTSA GLB1 NEU1
21 lipoid congenital adrenal hyperplasia 9.7
22 mucolipidosis ii alpha/beta 9.7
23 mannosidosis 9.7
24 thrombocytopenia 9.7
25 renal hypertension 9.7
26 hyperparathyroidism 9.7
27 iga glomerulonephritis 9.7
28 axonal neuropathy 9.7
29 neuropathy 9.7
30 gigantism 9.7
31 spastic paraparesis 9.7
32 mucopolysaccharidoses 9.7
33 myoclonus 9.7
34 spasticity 9.7
35 kleeblattschaedel 9.7
36 tetralogy of fallot 9.7
37 tetrasomy 15q26 9.7
38 alacrima, achalasia, and mental retardation syndrome 9.7
39 hydrocephalus 9.7
40 scoliosis 9.7
41 umbilical hernia 9.7
42 cervicitis 9.7
43 tay-sachs disease 9.7 CTSA GLB1 NEU1
44 sphingolipidosis 9.6 CTSA GLB1
45 retinal detachment 9.4
46 cataract 9.4
47 corneal dystrophy 9.4
48 retinitis 9.4
49 neuronitis 9.4
50 glycoproteinosis 9.2 CTSA GLB1 NEU1 NEU2

Graphical network of the top 20 diseases related to Galactosialidosis:



Diseases related to Galactosialidosis

Symptoms & Phenotypes for Galactosialidosis

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
mental retardation

HEENT:
hearing loss
coarse facies
corneal clouding
conjunctival telangiectases
macular cherry red spot

GI:
usually no organomegaly
occasionally hepatosplenomegaly
vacuolated kupffer cells

Cardiac:
mitral valvular disease
aortic valvular disease

Skel:
dysostosis multiplex

Growth:
dwarfism

Skin:
widespread hemangiomas

Lab:
em of skin biopsy and peripheral blood lymphocytes shows membrane-bound fibrillogranular inclusions
elevated urine sialyloligosaccharides but no free sialic acid
neuraminidase deficiency
beta-galactosidase deficiency
decreased carboxypeptidase-l/protective protein activity


Clinical features from OMIM:

256540

Human phenotypes related to Galactosialidosis:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
7 abnormal vertebral morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003468
8 cherry red spot of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010729
9 dysostosis multiplex 32 HP:0000943
10 opacification of the corneal stroma 32 HP:0007759
11 conjunctival telangiectasia 32 HP:0000524
12 severe short stature 32 HP:0003510
13 abnormality of the vertebral column 59 Very frequent (99-80%)
14 hepatosplenomegaly 32 occasional (7.5%) HP:0001433
15 hemangioma 32 HP:0001028
16 decreased beta-galactosidase activity 32 HP:0008166

Drugs & Therapeutics for Galactosialidosis

Drugs for Galactosialidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Krestin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
2 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
3 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
4 Characterization of the Patient Population With Galactosialidosis Active, not recruiting NCT01416467

Search NIH Clinical Center for Galactosialidosis

Genetic Tests for Galactosialidosis

Anatomical Context for Galactosialidosis

MalaCards organs/tissues related to Galactosialidosis:

41
Bone, Bone Marrow, Skin, Eye, Brain, Pancreas, Placenta

Publications for Galactosialidosis

Articles related to Galactosialidosis:

(show top 50) (show all 130)
# Title Authors Year
1
Dental Management of a Young Child Affected by Galactosialidosis and a Gigantic Abdominal Growth. ( 29808128 )
2018
2
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
3
Galactosialidosis in a Newborn with a Novel Mutation in the <i>CTSA</i> Gene Presenting with Transient Hyperparathyroidism. ( 29876240 )
2017
4
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. ( 28603679 )
2017
5
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects. ( 28857439 )
2017
6
A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene. ( 28555253 )
2017
7
Pancreas Transplantation Is Feasible in Donors With Shprintzen-Goldberg Syndrome. ( 28923642 )
2017
8
Shprintzen-Goldberg syndrome: a rare disorder. ( 27761171 )
2016
9
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on I^-galactosidase activities in fibroblasts. ( 26259553 )
2015
10
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. ( 24769197 )
2014
11
A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene - Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination. ( 25075748 )
2014
12
Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis. ( 24779613 )
2014
13
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. ( 24736733 )
2014
14
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. ( 24611072 )
2014
15
Double-valve surgery in Shprintzen-Goldberg syndrome. ( 24887819 )
2014
16
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. ( 24397373 )
2014
17
Ultrastructural change of ligamentum flavum in galactosialidosis. ( 23989749 )
2013
18
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. ( 24357594 )
2013
19
Galactosialidosis: review and analysis of CTSA gene mutations. ( 23915561 )
2013
20
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. ( 23330586 )
2013
21
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. ( 23103230 )
2012
22
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. ( 23023332 )
2012
23
Germline mosacism in Shprintzen-Goldberg syndrome. ( 22639450 )
2012
24
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? ( 22653535 )
2012
25
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. ( 22008912 )
2012
26
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. ( 22386972 )
2012
27
Myoclonus and angiokeratomas in adult galactosialidosis. ( 21312277 )
2011
28
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. ( 21307714 )
2011
29
Left ventricular &amp;quot;diverticulum&amp;quot; in a patient affected by galactosialidosis. ( 21738533 )
2011
30
Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues. ( 20546307 )
2010
31
Galactosialidosis presenting as nonimmune fetal hydrops: a case report. ( 19466716 )
2009
32
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. ( 19097920 )
2009
33
A case of galactosialidosis with a homozygous Q49R point mutation. ( 18396002 )
2008
34
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. ( 17979970 )
2008
35
Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy. ( 18429828 )
2008
36
A Brazilian galactosialidosis patient given renal transplantation: a case report. ( 18937050 )
2008
37
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. ( 17303258 )
2007
38
Molecular pathology of Shprintzen-Goldberg syndrome. ( 16333834 )
2006
39
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement. ( 16361247 )
2006
40
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. ( 16970241 )
2006
41
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. ( 15884042 )
2005
42
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. ( 15840802 )
2005
43
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. ( 15213228 )
2004
44
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis. ( 15149881 )
2004
45
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. ( 15084520 )
2004
46
Shprintzen-Goldberg syndrome: case report. ( 12846610 )
2003
47
New mutations in two Dutch patients with early infantile galactosialidosis. ( 12649068 )
2003
48
Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management. ( 12818943 )
2003
49
A case of galactosialidosis. ( 12932252 )
2003
50
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. ( 14536008 )
2003

Variations for Galactosialidosis

UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 CTSA p.Gln49Arg VAR_001385 rs137854541
2 CTSA p.Trp65Arg VAR_001386 rs28934603
3 CTSA p.Ser90Leu VAR_001387 rs137854542
4 CTSA p.Tyr249Asn VAR_001388 rs137854544
5 CTSA p.Tyr395Cys VAR_001389 rs137854543
6 CTSA p.Phe440Val VAR_001390 rs137854540
7 CTSA p.Ser51Tyr VAR_063018
8 CTSA p.Val132Met VAR_063019 rs137854545
9 CTSA p.Leu236Pro VAR_063020 rs137854546
10 CTSA p.Met406Thr VAR_063021 rs137854548
11 CTSA p.Gly439Ser VAR_063022 rs137854547
12 CTSA p.Lys453Glu VAR_063023 rs137854549

ClinVar genetic disease variations for Galactosialidosis:

6
(show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSA NM_000308.3(CTSA): c.746+3A> G single nucleotide variant Pathogenic rs786200859 GRCh37 Chromosome 20, 44521953: 44521953
2 CTSA NM_000308.3(CTSA): c.746+3A> G single nucleotide variant Pathogenic rs786200859 GRCh38 Chromosome 20, 45893314: 45893314
3 CTSA NM_000308.3(CTSA): c.200A> G (p.Gln67Arg) single nucleotide variant Pathogenic rs137854541 GRCh37 Chromosome 20, 44520353: 44520353
4 CTSA NM_000308.3(CTSA): c.200A> G (p.Gln67Arg) single nucleotide variant Pathogenic rs137854541 GRCh38 Chromosome 20, 45891714: 45891714
5 CTSA NM_000308.3(CTSA): c.247T> C (p.Trp83Arg) single nucleotide variant Pathogenic rs28934603 GRCh37 Chromosome 20, 44520400: 44520400
6 CTSA NM_000308.3(CTSA): c.247T> C (p.Trp83Arg) single nucleotide variant Pathogenic rs28934603 GRCh38 Chromosome 20, 45891761: 45891761
7 CTSA NM_000308.3(CTSA): c.323C> T (p.Ser108Leu) single nucleotide variant Pathogenic rs137854542 GRCh37 Chromosome 20, 44520629: 44520629
8 CTSA NM_000308.3(CTSA): c.323C> T (p.Ser108Leu) single nucleotide variant Pathogenic rs137854542 GRCh38 Chromosome 20, 45891990: 45891990
9 CTSA NM_000308.3(CTSA): c.1238A> G (p.Tyr413Cys) single nucleotide variant Pathogenic rs137854543 GRCh37 Chromosome 20, 44526375: 44526375
10 CTSA NM_000308.3(CTSA): c.1238A> G (p.Tyr413Cys) single nucleotide variant Pathogenic rs137854543 GRCh38 Chromosome 20, 45897736: 45897736
11 CTSA NM_000308.3(CTSA): c.799T> A (p.Tyr267Asn) single nucleotide variant Pathogenic rs137854544 GRCh37 Chromosome 20, 44522679: 44522679
12 CTSA NM_000308.3(CTSA): c.799T> A (p.Tyr267Asn) single nucleotide variant Pathogenic rs137854544 GRCh38 Chromosome 20, 45894040: 45894040
13 CTSA NM_000308.3(CTSA): c.448G> A (p.Val150Met) single nucleotide variant Pathogenic rs137854545 GRCh37 Chromosome 20, 44521073: 44521073
14 CTSA NM_000308.3(CTSA): c.448G> A (p.Val150Met) single nucleotide variant Pathogenic rs137854545 GRCh38 Chromosome 20, 45892434: 45892434
15 CTSA NM_000308.3(CTSA): c.284delC (p.Pro95Leufs) deletion Pathogenic rs587779402 GRCh37 Chromosome 20, 44520590: 44520590
16 CTSA NM_000308.3(CTSA): c.284delC (p.Pro95Leufs) deletion Pathogenic rs587779402 GRCh38 Chromosome 20, 45891951: 45891951
17 CTSA NM_000308.3(CTSA): c.108_110delGCT (p.Leu37del) deletion Benign rs397784956 GRCh37 Chromosome 20, 44520261: 44520263
18 CTSA NM_000308.3(CTSA): c.108_110delGCT (p.Leu37del) deletion Benign rs397784956 GRCh38 Chromosome 20, 45891622: 45891624
19 CTSA NM_000308.3(CTSA): c.887_888delAT (p.Tyr296Cysfs) deletion Pathogenic rs875989777 GRCh37 Chromosome 20, 44523344: 44523345
20 CTSA NM_000308.3(CTSA): c.887_888delAT (p.Tyr296Cysfs) deletion Pathogenic rs875989777 GRCh38 Chromosome 20, 45894705: 45894706
21 CTSA NM_000308.3(CTSA): c.105_108delGCTGinsC (p.Leu37del) indel Likely benign rs886039898 GRCh37 Chromosome 20, 44520258: 44520261
22 CTSA NM_000308.3(CTSA): c.105_108delGCTGinsC (p.Leu37del) indel Likely benign rs886039898 GRCh38 Chromosome 20, 45891619: 45891622
23 CTSA NM_000308.3(CTSA): c.-292T> C single nucleotide variant Uncertain significance rs554749359 GRCh38 Chromosome 20, 45891034: 45891034
24 CTSA NM_000308.3(CTSA): c.-292T> C single nucleotide variant Uncertain significance rs554749359 GRCh37 Chromosome 20, 44519673: 44519673
25 CTSA NM_000308.3(CTSA): c.-238delC deletion Uncertain significance rs886056710 GRCh38 Chromosome 20, 45891088: 45891088
26 CTSA NM_000308.3(CTSA): c.-238delC deletion Uncertain significance rs886056710 GRCh37 Chromosome 20, 44519727: 44519727
27 CTSA NM_000308.3(CTSA): c.-237delT deletion Uncertain significance rs886056711 GRCh38 Chromosome 20, 45891089: 45891089
28 CTSA NM_000308.3(CTSA): c.-237delT deletion Uncertain significance rs886056711 GRCh37 Chromosome 20, 44519728: 44519728
29 CTSA NM_000308.3(CTSA): c.-52G> A single nucleotide variant Uncertain significance rs373024722 GRCh38 Chromosome 20, 45891274: 45891274
30 CTSA NM_000308.3(CTSA): c.-52G> A single nucleotide variant Uncertain significance rs373024722 GRCh37 Chromosome 20, 44519913: 44519913
31 CTSA NM_000308.3(CTSA): c.13C> T (p.Pro5Ser) single nucleotide variant Uncertain significance rs765245462 GRCh38 Chromosome 20, 45891338: 45891338
32 CTSA NM_000308.3(CTSA): c.13C> T (p.Pro5Ser) single nucleotide variant Uncertain significance rs765245462 GRCh37 Chromosome 20, 44519977: 44519977
33 CTSA NM_000308.3(CTSA): c.522C> T (p.Ala174=) single nucleotide variant Uncertain significance rs190565374 GRCh38 Chromosome 20, 45892748: 45892748
34 CTSA NM_000308.3(CTSA): c.522C> T (p.Ala174=) single nucleotide variant Uncertain significance rs190565374 GRCh37 Chromosome 20, 44521387: 44521387
35 CTSA NM_000308.3(CTSA): c.1407G> A (p.Thr469=) single nucleotide variant Likely benign rs25649 GRCh38 Chromosome 20, 45898103: 45898103
36 CTSA NM_000308.3(CTSA): c.1407G> A (p.Thr469=) single nucleotide variant Likely benign rs25649 GRCh37 Chromosome 20, 44526742: 44526742
37 CTSA NM_000308.3(CTSA): c.*320G> A single nucleotide variant Uncertain significance rs568876316 GRCh38 Chromosome 20, 45898770: 45898770
38 CTSA NM_000308.3(CTSA): c.*320G> A single nucleotide variant Uncertain significance rs568876316 GRCh37 Chromosome 20, 44527409: 44527409
39 CTSA NM_000308.3(CTSA): c.-271G> A single nucleotide variant Uncertain significance rs566739434 GRCh38 Chromosome 20, 45891055: 45891055
40 CTSA NM_000308.3(CTSA): c.-271G> A single nucleotide variant Uncertain significance rs566739434 GRCh37 Chromosome 20, 44519694: 44519694
41 CTSA NM_000308.3(CTSA): c.-43G> T single nucleotide variant Likely benign rs116893852 GRCh38 Chromosome 20, 45891283: 45891283
42 CTSA NM_000308.3(CTSA): c.-43G> T single nucleotide variant Likely benign rs116893852 GRCh37 Chromosome 20, 44519922: 44519922
43 CTSA NM_000308.3(CTSA): c.412-5T> G single nucleotide variant Uncertain significance rs375266196 GRCh38 Chromosome 20, 45892393: 45892393
44 CTSA NM_000308.3(CTSA): c.412-5T> G single nucleotide variant Uncertain significance rs375266196 GRCh37 Chromosome 20, 44521032: 44521032
45 CTSA NM_000308.3(CTSA): c.823G> A (p.Val275Met) single nucleotide variant Uncertain significance rs745752655 GRCh38 Chromosome 20, 45894064: 45894064
46 CTSA NM_000308.3(CTSA): c.823G> A (p.Val275Met) single nucleotide variant Uncertain significance rs745752655 GRCh37 Chromosome 20, 44522703: 44522703
47 CTSA NM_000308.3(CTSA): c.893C> T (p.Pro298Leu) single nucleotide variant Uncertain significance rs778824488 GRCh38 Chromosome 20, 45894711: 45894711
48 CTSA NM_000308.3(CTSA): c.893C> T (p.Pro298Leu) single nucleotide variant Uncertain significance rs778824488 GRCh37 Chromosome 20, 44523350: 44523350
49 CTSA NM_000308.3(CTSA): c.1002+7G> A single nucleotide variant Benign rs2075961 GRCh38 Chromosome 20, 45894908: 45894908
50 CTSA NM_000308.3(CTSA): c.1002+7G> A single nucleotide variant Benign rs2075961 GRCh37 Chromosome 20, 44523547: 44523547

Expression for Galactosialidosis

Search GEO for disease gene expression data for Galactosialidosis.

Pathways for Galactosialidosis

Pathways related to Galactosialidosis according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Sphingolipid metabolism hsa00600

Pathways related to Galactosialidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
2
Show member pathways
13.27 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
3
Show member pathways
12.62 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
4
Show member pathways
12.04 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
5
Show member pathways
11.72 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
6 11.59 CTSA GLB1 NEU1
7 10.28 GLB1 NEU1 NEU2 NEU3 NEU4

GO Terms for Galactosialidosis

Cellular components related to Galactosialidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.46 CTSA GLB1 NEU1 NEU4
2 intracellular membrane-bounded organelle GO:0043231 9.43 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
3 azurophil granule lumen GO:0035578 9.26 CTSA GLB1
4 lysosomal lumen GO:0043202 8.92 CTSA GLB1 NEU1 NEU4

Biological processes related to Galactosialidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.77 GLB1 NEU1 NEU2 NEU3 NEU4
2 lipid metabolic process GO:0006629 9.71 NEU1 NEU2 NEU3 NEU4
3 carbohydrate metabolic process GO:0005975 9.65 GLB1 NEU1 NEU2 NEU3 NEU4
4 lipid catabolic process GO:0016042 9.62 NEU1 NEU2 NEU3 NEU4
5 neutrophil degranulation GO:0043312 9.61 CTSA GLB1 NEU1
6 oligosaccharide catabolic process GO:0009313 9.46 NEU1 NEU2 NEU3 NEU4
7 ganglioside catabolic process GO:0006689 9.26 NEU1 NEU2 NEU3 NEU4
8 glycosphingolipid metabolic process GO:0006687 9.1 CTSA GLB1 NEU1 NEU2 NEU3 NEU4

Molecular functions related to Galactosialidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.88 CTSA GLB1 NEU1 NEU2 NEU3 NEU4
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.72 GLB1 NEU1 NEU2 NEU3 NEU4
3 exo-alpha-(2->8)-sialidase activity GO:0052796 9.56 NEU1 NEU2 NEU3 NEU4
4 exo-alpha-(2->6)-sialidase activity GO:0052795 9.46 NEU1 NEU2 NEU3 NEU4
5 alpha-sialidase activity GO:0016997 9.37 NEU1 NEU3
6 exo-alpha-(2->3)-sialidase activity GO:0052794 9.26 NEU1 NEU2 NEU3 NEU4
7 exo-alpha-sialidase activity GO:0004308 9.1 CTSA GLB1 NEU1 NEU2 NEU3 NEU4

Sources for Galactosialidosis

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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