GSL
MCID: GLC012
MIFTS: 49

Galactosialidosis (GSL) malady

Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases categories

Summaries for Galactosialidosis

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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

MalaCards: Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to angiokeratoma and lysosomal storage disease, and has symptoms including anomalies of spine, vertebrae and pelvis, macular pigmentary anomaly/cherry-red spot and short stature/dwarfism/nanism. An important gene associated with Galactosialidosis is CTSA (cathepsin A), and among its related pathways are Galactose metabolism and Lysosome. The compounds ppca and 2-(4-methylumbelliferyl)-alpha-d-n-acetylneuraminic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin.

Genetics Home Reference:21 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:63 Galactosialidosis is a lysosomal storage disease. more...

Description from OMIM:46 256540

Aliases & Classifications for Galactosialidosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
galactosialidosis:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

galactosialidosis 42 20 21 46 48 60
neuraminidase deficiency with beta-galactosidase deficiency 42 21 48
goldberg syndrome 42 21 48
lysosomal protective protein deficiency of 42
lysosomal protective protein deficiency 21
deficiency of cathepsin a 21
cathepsin a deficiency of 42
ppca deficiency 21
gsl 42


External Ids:

OMIM46 256540
MESH via Orphanet35 C536411
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet57 35691006
UMLS via Orphanet61 C0268233

Related Diseases for Galactosialidosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Galactosialidosis:



Diseases related to galactosialidosis

Clinical Features for Galactosialidosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

256540

Clinical synopsis from OMIM:

256540

Symptoms:

48 (show all 10)
  • anomalies of spine, vertebrae and pelvis
  • macular pigmentary anomaly/cherry-red spot
  • short stature/dwarfism/nanism
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • hearing loss/hypoacusia/deafness
  • corneal clouding/opacity/vascularisation
  • coarse face
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal recessive inheritance

Drugs & Therapeutics for Galactosialidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Galactosialidosis

Drug clinical trials:

Search ClinicalTrials for Galactosialidosis

Search NIH Clinical Center for Galactosialidosis

Search CenterWatch for Galactosialidosis

Genetic Tests for Galactosialidosis

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20GeneTests
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Genetic tests related to Galactosialidosis:

id Genetic test Affiliating Genes
1 Galactosialidosis20 CTSA

Anatomical Context for Galactosialidosis

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32MalaCards
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MalaCards organs/tissues related to Galactosialidosis:

32
Bone, Bone marrow, Skin, Eye

Animal Models for Galactosialidosis or affiliated genes

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Publications for Galactosialidosis

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Genetic Variations for Galactosialidosis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Galactosialidosis:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1CTSAp.Gln49ArgVAR_001385
2CTSAp.Trp65ArgVAR_001386rs28934603
3CTSAp.Ser90LeuVAR_001387
4CTSAp.Tyr249AsnVAR_001388
5CTSAp.Tyr395CysVAR_001389
6CTSAp.Phe440ValVAR_001390
7CTSAp.Ser51TyrVAR_063018
8CTSAp.Val132MetVAR_063019
9CTSAp.Leu236ProVAR_063020
10CTSAp.Met406ThrVAR_063021
11CTSAp.Gly439SerVAR_063022
12CTSAp.Lys453GluVAR_063023

Expression for genes affiliated with Galactosialidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Galactosialidosis

Search GEO for disease gene expression data for Galactosialidosis.

Pathways for genes affiliated with Galactosialidosis

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29KEGG, 12EMD Millipore, 53Reactome
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Pathways related to Galactosialidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Galactose metabolism
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9.9GLB1, GLA
29.5GLA, CTSA, NEU1, GLB1
39.1NEU2, NEU3, NEU4, NEU1, GLB1
4
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8.6NEU1, NEU4, NEU3, NEU2, GLB1, GLA
5
Hide members
8.6NEU2, CTSA, NEU1, NEU4, GLA, GLB1

Compounds for genes affiliated with Galactosialidosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Galactosialidosis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1ppca4410.3CTSA, NEU1
22-(4-methylumbelliferyl)-alpha-d-n-acetylneuraminic acid4410.3NEU1, NEU2
3zanamivir44 1111.2NEU2, NEU1
4oseltamivir44 1111.2NEU2, NEU1
5sodium azide4410.0DNAH8, NEU1
6lactosylceramide4410.0GLA, NEU3
7n-acetyllactosamine44 2411.0GLA, NEU1
8levamisole44 1111.0NEU1, DNAH8
9sulfatide4410.0GLB1, NEU1
10mannose 6-phosphate44 2410.9CTSA, NEU1, GLA
11glutaraldehyde449.9NEU1, DNAH8, GLA
12glycolipid449.9NEU1, NEU3, GLA
131-deoxynojirimycin44 59 1111.9GLA, NEU1
14glycerol44 11 2411.6GLA, GLB1, DNAH8, NEU1
15nh4cl449.6DNAH8, NEU1
16ganglioside449.4GLA, GLB1, NEU2, NEU3, NEU1

GO Terms for genes affiliated with Galactosialidosis

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16Gene Ontology
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Cellular components related to Galactosialidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.4GLA, NEU4, NEU1, CTSA
2lysosomal lumenGO:0432028.8GLA, GLB1, NEU4, NEU1, CTSA

Biological processes related to Galactosialidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442818.6NEU1, NEU4, NEU3, NEU2, GLB1, GLA
2glycosphingolipid metabolic processGO:0066878.5NEU3, CTSA, NEU1, NEU4, NEU2, GLB1
3sphingolipid metabolic processGO:0066658.3GLA, CTSA, NEU1, NEU4, NEU3, NEU2

Molecular functions related to Galactosialidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exo-alpha-sialidase activityGO:0043089.8NEU1, NEU4
2catalytic activityGO:0038249.7NEU3, NEU2, GLA
3galactoside bindingGO:0169369.6GLB1, GLA
4exo-alpha-(2->8)-sialidase activityGO:0527969.5NEU1, NEU4, NEU3, NEU2
5exo-alpha-(2->6)-sialidase activityGO:0527959.4NEU1, NEU4, NEU3, NEU2
6exo-alpha-(2->3)-sialidase activityGO:0527949.4NEU1, NEU4, NEU3, NEU2

Products for genes affiliated with Galactosialidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Galactosialidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet