GSL
MCID: GLC012
MIFTS: 47

Galactosialidosis (GSL) malady

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

Aliases & Classifications for Galactosialidosis

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Galactosialidosis:

Name: Galactosialidosis 52 48 24 25 54 70 12 68
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 48 25 54 70
Goldberg Syndrome 48 25 54 70
Ppca Deficiency 48 25 70
Lysosomal Protective Protein Deficiency 25 70
Gsl 48 70
Neuraminidase/beta-Galactosidase Expression 48
 
Lysosomal Protective Protein Deficiency of 48
Protective Protein Cathepsin a Deficiency 70
Protective Protein/cathepsin a Deficiency 48
Deficiency of Cathepsin a 25
Cathepsin a Deficiency of 48
Cathepsin a Deficiency 70
Cathepsin a 12

Characteristics:

Orphanet epidemiological data:

54
galactosialidosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: All ages

HPO:

64
galactosialidosis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 256540
Orphanet54 ORPHA351
MESH via Orphanet40 C536411
ICD10 via Orphanet31 E77.1
UMLS via Orphanet69 C0268233
MeSH39 D016464

Summaries for Galactosialidosis

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OMIM:52 Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458)... (256540) more...

MalaCards based summary: Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to mannosidosis and shprintzen-goldberg syndrome, and has symptoms including Array, Array and Array. An important gene associated with Galactosialidosis is CTSA (Cathepsin A), and among its related pathways are Lysosome and Other glycan degradation. Affiliated tissues include bone, bone marrow and skin.

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.

NIH Rare Diseases:48 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. last updated: 5/16/2011

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Galactosialidosis is a lysosomal storage disease. more...

Related Diseases for Galactosialidosis

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Graphical network of the top 20 diseases related to Galactosialidosis:



Diseases related to galactosialidosis

Symptoms & Phenotypes for Galactosialidosis

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Symptoms by clinical synopsis from OMIM:

256540

Clinical features from OMIM:

256540

Human phenotypes related to Galactosialidosis:

 54 64 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features64 54 Very frequent (99-80%) HP:0000280
2 hearing impairment64 54 Very frequent (99-80%) HP:0000365
3 abnormality of the vertebral column54 Very frequent (99-80%)
4 intellectual disability64 54 Very frequent (99-80%) HP:0001249
5 seizures64 54 Very frequent (99-80%) HP:0001250
6 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
7 abnormality of the vertebrae64 54 Very frequent (99-80%) HP:0003468
8 corneal opacity64 54 Very frequent (99-80%) HP:0007957
9 cherry red spot of the macula64 54 Very frequent (99-80%) HP:0010729
10 conjunctival telangiectasia64 HP:0000524
11 dysostosis multiplex64 HP:0000943
12 hemangioma64 HP:0001028
13 hepatosplenomegaly64 HP:0001433
14 severe short stature64 HP:0003510
15 opacification of the corneal stroma64 HP:0007759
16 decreased beta-galactosidase activity64 HP:0008166

Drugs & Therapeutics for Galactosialidosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Krestin210

Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Studies of the GlycoproteinosesUnknown statusNCT01891422
2National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
3Characterization of the Patient Population With GalactosialidosisActive, not recruitingNCT01416467

Search NIH Clinical Center for Galactosialidosis

Genetic Tests for Galactosialidosis

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Genetic tests related to Galactosialidosis:

id Genetic test Affiliating Genes
1 Galactosialidosis24 CTSA

Anatomical Context for Galactosialidosis

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MalaCards organs/tissues related to Galactosialidosis:

36
Bone, Bone marrow, Skin, Eye, Brain, Placenta, Retina

Publications for Galactosialidosis

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Articles related to Galactosialidosis:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on I^-galactosidase activities in fibroblasts. (26259553)
2015
2
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. (24769197)
2014
3
A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene - Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination. (25075748)
2014
4
Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis. (24779613)
2014
5
Galactosialidosis: review and analysis of CTSA gene mutations. (23915561)
2013
6
Ultrastructural change of ligamentum flavum in galactosialidosis. (23989749)
2013
7
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. (22008912)
2012
8
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. (22386972)
2012
9
Left ventricular "diverticulum" in a patient affected by galactosialidosis. (21738533)
2011
10
Myoclonus and angiokeratomas in adult galactosialidosis. (21312277)
2011
11
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
12
Galactosialidosis presenting as nonimmune fetal hydrops: a case report. (19466716)
2009
13
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. (19097920)
2009
14
Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy. (18429828)
2008
15
A Brazilian galactosialidosis patient given renal transplantation: a case report. (18937050)
2008
16
A case of galactosialidosis with a homozygous Q49R point mutation. (18396002)
2008
17
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement. (16361247)
2006
18
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis. (15149881)
2004
19
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. (15213228)
2004
20
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. (15084520)
2004
21
A case of galactosialidosis. (12932252)
2003
22
New mutations in two Dutch patients with early infantile galactosialidosis. (12649068)
2003
23
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
24
Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management. (12818943)
2003
25
Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells. (11964280)
2002
26
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. (12023988)
2002
27
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (10944848)
2000
28
A case of adult type galactosialidosis with involvement of peripheral nerves. (11081812)
2000
29
Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern. (10632112)
2000
30
Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes. (10333491)
1999
31
A case with early infantile form of galactosialidosis with unusual haematological findings. (10399101)
1999
32
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites. (10399100)
1999
33
Vascular pathology in galactosialidosis. (10626686)
1999
34
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. (10377011)
1999
35
Angiokeratoma corporis diffusum associated with galactosialidosis. (9693187)
1998
36
Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA. (9736781)
1998
37
The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis. (9435242)
1998
38
Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. (9480870)
1998
39
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene. (9603439)
1998
40
Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoter. (9843984)
1998
41
Unusual pure motor axonal neuropathy in a Burmese family with galactosialidosis. (9870214)
1998
42
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. (9762607)
1998
43
Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation). (9636645)
1998
44
Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency). (9437536)
1997
45
Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. (9006654)
1997
46
Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis. (9105659)
1997
47
Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient. (8862621)
1996
48
Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning. (8838767)
1996
49
Galactosialidosis in two siblings. (8819626)
1996
50
Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis. (8611156)
1996

Variations for Galactosialidosis

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UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:

70 (show all 12)
id Symbol AA change Variation ID SNP ID
1CTSAp.Gln49ArgVAR_001385rs137854541
2CTSAp.Trp65ArgVAR_001386rs28934603
3CTSAp.Ser90LeuVAR_001387rs137854542
4CTSAp.Tyr249AsnVAR_001388rs137854544
5CTSAp.Tyr395CysVAR_001389rs137854543
6CTSAp.Phe440ValVAR_001390rs137854540
7CTSAp.Ser51TyrVAR_063018
8CTSAp.Val132MetVAR_063019rs137854545
9CTSAp.Leu236ProVAR_063020rs137854546
10CTSAp.Met406ThrVAR_063021rs137854548
11CTSAp.Gly439SerVAR_063022rs137854547
12CTSAp.Lys453GluVAR_063023rs137854549

Clinvar genetic disease variations for Galactosialidosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CTSANM_ 000308.3(CTSA): c.284delC (p.Pro95Leufs)deletionPathogenicrs587779402GRCh37Chr 20, 44520590: 44520590
2CTSANM_ 000308.3(CTSA): c.887_ 888delAT (p.Tyr296Cysfs)deletionPathogenicrs875989777GRCh37Chr 20, 44523344: 44523345
3CTSANM_ 000308.3(CTSA): c.746+3A> GSNVPathogenicrs786200859GRCh37Chr 20, 44521953: 44521953
4CTSANM_ 000308.3(CTSA): c.200A> G (p.Gln67Arg)SNVPathogenicrs137854541GRCh37Chr 20, 44520353: 44520353
5CTSANM_ 000308.3(CTSA): c.247T> C (p.Trp83Arg)SNVPathogenicrs28934603GRCh37Chr 20, 44520400: 44520400
6CTSANM_ 000308.3(CTSA): c.323C> T (p.Ser108Leu)SNVPathogenicrs137854542GRCh37Chr 20, 44520629: 44520629
7CTSANM_ 000308.3(CTSA): c.1238A> G (p.Tyr413Cys)SNVPathogenicrs137854543GRCh37Chr 20, 44526375: 44526375
8CTSANM_ 000308.3(CTSA): c.799T> A (p.Tyr267Asn)SNVPathogenicrs137854544GRCh37Chr 20, 44522679: 44522679
9CTSANM_ 000308.3(CTSA): c.448G> A (p.Val150Met)SNVPathogenicrs137854545GRCh37Chr 20, 44521073: 44521073

Expression for genes affiliated with Galactosialidosis

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Search GEO for disease gene expression data for Galactosialidosis.

Pathways for genes affiliated with Galactosialidosis

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Pathways related to Galactosialidosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2CTSA, GLB1, NEU1
27.7GLB1, NEU1, NEU2, NEU3, NEU4
3
Show member pathways
7.4CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
4
Show member pathways
7.4CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
5
Show member pathways
7.4CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
6
Show member pathways
7.4CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
7
Show member pathways
7.4CTSA, GLB1, NEU1, NEU2, NEU3, NEU4

GO Terms for genes affiliated with Galactosialidosis

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

idNameGO IDScoreTop Affiliating Genes
1azurophil granule lumenGO:003557810.4CTSA, GLB1
2lysosomal lumenGO:00432029.0CTSA, GLB1, NEU1, NEU4
3intracellular membrane-bounded organelleGO:00432318.8CTSA, GLB1, NEU1, NEU2, NEU3
4lysosomeGO:00057648.4CTSA, GLB1, NEU1, NEU4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1neutrophil degranulationGO:00433129.5CTSA, GLB1, NEU1
2ganglioside catabolic processGO:00066898.9NEU1, NEU2, NEU3, NEU4
3lipid catabolic processGO:00160428.9NEU1, NEU2, NEU3, NEU4
4lipid metabolic processGO:00066298.9NEU1, NEU2, NEU3, NEU4
5carbohydrate metabolic processGO:00059758.5GLB1, NEU1, NEU2, NEU3, NEU4
6metabolic processGO:00081528.4GLB1, NEU1, NEU2, NEU3, NEU4
7oligosaccharide catabolic processGO:00093138.2NEU1, NEU2, NEU3, NEU4
8glycosphingolipid metabolic processGO:00066878.1CTSA, GLB1, NEU1, NEU2, NEU3, NEU4

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

idNameGO IDScoreTop Affiliating Genes
1exo-alpha-(2->3)-sialidase activityGO:00527948.9NEU1, NEU2, NEU3, NEU4
2exo-alpha-(2->6)-sialidase activityGO:00527958.9NEU1, NEU2, NEU3, NEU4
3exo-alpha-(2->8)-sialidase activityGO:00527968.9NEU1, NEU2, NEU3, NEU4
4exo-alpha-sialidase activityGO:00043088.1CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
5hydrolase activityGO:00167877.9CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
6hydrolase activity, acting on glycosyl bondsGO:00167987.7GLB1, NEU1, NEU2, NEU3, NEU4

Sources for Galactosialidosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet