MCID: GLC012
MIFTS: 46

Galactosialidosis malady

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

Aliases & Classifications for Galactosialidosis

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Galactosialidosis:

Name: Galactosialidosis 50 46 23 24 52 68 12 66
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 46 24 52 68
Goldberg Syndrome 46 24 52 68
Ppca Deficiency 46 24 68
Lysosomal Protective Protein Deficiency 24 68
Gsl 46 68
Neuraminidase/beta-Galactosidase Expression 46
 
Lysosomal Protective Protein Deficiency of 46
Protective Protein Cathepsin a Deficiency 68
Protective Protein/cathepsin a Deficiency 46
Cathepsin a Deficiency of 46
Deficiency of Cathepsin a 24
Cathepsin a Deficiency 68
Cathepsin a 12

Characteristics:

Orphanet epidemiological data:

52
galactosialidosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: All ages

HPO:

62
galactosialidosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 256540
Orphanet52 ORPHA351
ICD10 via Orphanet29 E77.1
MESH via Orphanet38 C536411
UMLS via Orphanet67 C0268233
MeSH37 D016464

Summaries for Galactosialidosis

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OMIM:50 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 shprintzen-goldberg syndrome and neuroblastoma, and has symptoms including coarse facial features, hearing impairment and abnormality of the macula. 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:24 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:46 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:68 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:69 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 for Galactosialidosis

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Symptoms by clinical synopsis from OMIM:

256540

Clinical features from OMIM:

256540

Symptoms:

 52 (show all 9)
  • coarse facial features
  • hearing impairment
  • abnormality of the vertebral column
  • intellectual disability
  • seizures
  • skeletal dysplasia
  • abnormality of the vertebrae
  • corneal opacity
  • cherry red spot of the macula

HPO human phenotypes related to Galactosialidosis:

(show all 20)
id Description Frequency HPO Source Accession
1 coarse facial features hallmark (90%) HP:0000280
2 hearing impairment hallmark (90%) HP:0000365
3 abnormality of the macula hallmark (90%) HP:0001103
4 seizures hallmark (90%) HP:0001250
5 skeletal dysplasia hallmark (90%) HP:0002652
6 short stature hallmark (90%) HP:0004322
7 opacification of the corneal stroma hallmark (90%) HP:0007759
8 cognitive impairment hallmark (90%) HP:0100543
9 coarse facial features HP:0000280
10 hearing impairment HP:0000365
11 conjunctival telangiectasia HP:0000524
12 dysostosis multiplex HP:0000943
13 hemangioma HP:0001028
14 intellectual disability HP:0001249
15 seizures HP:0001250
16 hepatosplenomegaly HP:0001433
17 severe short stature HP:0003510
18 opacification of the corneal stroma HP:0007759
19 decreased beta-galactosidase activity HP:0008166
20 cherry red spot of the macula HP:0010729

Drugs & Therapeutics for Galactosialidosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Studies of the GlycoproteinosesRecruitingNCT01891422
2Characterization of the Patient Population With GalactosialidosisActive, not recruitingNCT01416467
3National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

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 Galactosialidosis23 CTSA

Anatomical Context for Galactosialidosis

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MalaCards organs/tissues related to Galactosialidosis:

34
Bone, Bone marrow, Skin, Eye, Brain, Placenta, Retina

Animal Models for Galactosialidosis or affiliated genes

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Publications for Galactosialidosis

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Articles related to Galactosialidosis:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene - Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination. (25075748)
2014
2
Ultrastructural change of ligamentum flavum in galactosialidosis. (23989749)
2013
3
Galactosialidosis: review and analysis of CTSA gene mutations. (23915561)
2013
4
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. (22386972)
2012
5
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. (22008912)
2012
6
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
7
Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy. (18429828)
2008
8
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement. (16361247)
2006
9
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis. (15149881)
2004
10
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
11
A case of galactosialidosis. (12932252)
2003
12
Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management. (12818943)
2003
13
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (10944848)
2000
14
A case of adult type galactosialidosis with involvement of peripheral nerves. (11081812)
2000
15
Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern. (10632112)
2000
16
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
17
Vascular pathology in galactosialidosis. (10626686)
1999
18
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
19
Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. (9480870)
1998
20
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
21
Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. (9006654)
1997
22
Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient. (8862621)
1996
23
Galactosialidosis in two siblings. (8819626)
1996
24
Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis. (8611156)
1996
25
Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning. (8838767)
1996
26
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. (7590240)
1995
27
Hydrops fetalis in four siblings caused by galactosialidosis. (7759227)
1995
28
Homologous modeling of the lysosomal protective protein/carboxypeptidase L: structural and functional implications of mutations identified in galactosialidosis patients. (8146124)
1994
29
The biochemistry and clinical features of galactosialidosis. (8312369)
1994
30
Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. (8216548)
1993
31
Electroretinogram and visual evoked potential in two siblings with adult form galactosialidosis. (8259070)
1993
32
Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts. (1497621)
1992
33
Acid carboxypeptidase deficiency in galactosialidosis. (1920915)
1991
34
Urinary oligosaccharide excretion and severity of galactosialidosis and sialidosis. (1777981)
1991
35
Galactosialidosis: neuropathological findings in a case of the late-infantile type. (1662853)
1991
36
Adult-form galactosialidosis: ocular findings in three cases. (1784463)
1991
37
A comparative study of sialyloligosaccharides isolated from sialidosis and galactosialidosis urine. (1779619)
1991
38
Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis. (2115076)
1990
39
Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities. (2244901)
1990
40
Deficient lysosomal carboxypeptidase activity in galactosialidosis. (2328002)
1990
41
Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine. An intact N,N'-diacetylchitobiose unit at the reducing end of a diantennary structure. (2713102)
1989
42
A comparative study of the accumulated sialic acid-containing oligosaccharides from cultured human galactosialidosis and sialidosis fibroblasts. (3134148)
1988
43
Prenatal diagnosis of galactosialidosis. (3129707)
1988
44
Storage of sialic acid-containing carbohydrates in the placenta of a human galactosialidosis fetus. Isolation and structural characterization of 16 sialyloligosaccharides. (3142773)
1988
45
Juvenile galactosialidosis in a white male: a new variant. (3149149)
1988
46
The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis. (3142815)
1988
47
Clinical heterogeneity in infantile galactosialidosis. (3119343)
1987
48
Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. (3081902)
1986
49
Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes. (3080874)
1986
50
Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting. (3929673)
1985

Variations for Galactosialidosis

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UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:

68 (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.200A> G (p.Gln67Arg)single nucleotide variantPathogenicrs137854541GRCh37Chr 20, 44520353: 44520353
4CTSANM_000308.3(CTSA): c.247T> C (p.Trp83Arg)single nucleotide variantPathogenicrs28934603GRCh37Chr 20, 44520400: 44520400
5CTSANM_000308.3(CTSA): c.323C> T (p.Ser108Leu)single nucleotide variantPathogenicrs137854542GRCh37Chr 20, 44520629: 44520629
6CTSANM_000308.3(CTSA): c.1238A> G (p.Tyr413Cys)single nucleotide variantPathogenicrs137854543GRCh37Chr 20, 44526375: 44526375
7CTSANM_000308.3(CTSA): c.799T> A (p.Tyr267Asn)single nucleotide variantPathogenicrs137854544GRCh37Chr 20, 44522679: 44522679
8CTSANM_000308.3(CTSA): c.448G> A (p.Val150Met)single nucleotide variantPathogenicrs137854545GRCh37Chr 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
19.1CTSA, GLB1, NEU1
2
Show member pathways
7.6GLB1, NEU1, NEU2, NEU3, NEU4
3
Show member pathways
7.3CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
4
Show member pathways
7.3CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
5
Show member pathways
7.3CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
6
Show member pathways
7.3CTSA, 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
1lysosomal lumenGO:00432028.6CTSA, GLB1, NEU1, NEU4
2lysosomeGO:00057648.1CTSA, GLB1, NEU1, NEU4
3intracellular membrane-bounded organelleGO:00432318.1CTSA, GLB1, NEU1, NEU2, NEU3

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

idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:00066898.7NEU1, NEU2, NEU3, NEU4
2oligosaccharide catabolic processGO:00093138.0NEU1, NEU2, NEU3, NEU4
3glycosphingolipid metabolic processGO:00066877.3CTSA, 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:00527948.3NEU1, NEU2, NEU3, NEU4
2exo-alpha-(2->6)-sialidase activityGO:00527958.2NEU1, NEU2, NEU3, NEU4
3exo-alpha-(2->8)-sialidase activityGO:00527968.0NEU1, NEU2, NEU3, NEU4
4exo-alpha-sialidase activityGO:00043087.3CTSA, GLB1, NEU1, NEU2, NEU3, NEU4

Sources for Galactosialidosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet