GSL
MCID: GLC012
MIFTS: 58

Galactosialidosis (GSL) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases categories
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Summaries for Galactosialidosis

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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 based summary: Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to lysosomal storage disease and gangliosidosis, and has symptoms including coarse face, corneal clouding/opacity/vascularisation and macular pigmentary anomaly/cherry-red spot. An important gene associated with Galactosialidosis is CTSA (cathepsin A), and among its related pathways are Galactose metabolism and Lysosome. The compounds N-Acetylneuraminic acid and Ganglioside GA2 (d18:1/20:0) 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:65 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, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Galactosialidosis, Aliases & Descriptions:

Name: Galactosialidosis 42 20 21 46 48 62
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 42 21 48 62
Goldberg Syndrome 42 21 48
Neuraminidase/beta-Galactosidase Expression 42 62
Protective Protein/cathepsin a Deficiency 42 62
Lysosomal Protective Protein Deficiency 21 62
 
Deficiency of Cathepsin a 21 62
Ppca Deficiency 42 21
Lysosomal Protective Protein Deficiency of 42
Cathepsin a Deficiency of 42
Gsl 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 E77.1
UMLS via Orphanet63 C0268233
OMIM46 256540
MESH via Orphanet35 C536411

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:

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

HPO human phenotypes related to Galactosialidosis:

(show all 21)
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 autosomal recessive inheritance HP:0000007
10 coarse facial features HP:0000280
11 hearing impairment HP:0000365
12 conjunctival telangiectasia HP:0000524
13 dysostosis multiplex HP:0000943
14 hemangioma HP:0001028
15 intellectual disability HP:0001249
16 seizures HP:0001250
17 hepatosplenomegaly HP:0001433
18 severe short stature HP:0003510
19 opacification of the corneal stroma HP:0007759
20 decreased beta-galactosidase activity HP:0008166
21 cherry red spot of the macula HP:0010729

Drugs & Therapeutics for Galactosialidosis

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Drug clinical trials:

Search ClinicalTrials for Galactosialidosis

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 Galactosialidosis20 CTSA

Anatomical Context for Galactosialidosis

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MalaCards organs/tissues related to Galactosialidosis:

32
Bone, Bone marrow, Skin, Eye, Brain, Retina, Heart, Liver, Placenta

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 90)
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
Myoclonus and angiokeratomas in adult galactosialidosis. (21312277)
2011
7
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. (19097920)
2009
8
Galactosialidosis presenting as nonimmune fetal hydrops: a case report. (19466716)
2009
9
Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy. (18429828)
2008
10
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement. (16361247)
2006
11
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis. (15149881)
2004
12
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. (15084520)
2004
13
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. (15213228)
2004
14
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
15
A case of galactosialidosis. (12932252)
2003
16
Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management. (12818943)
2003
17
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. (12023988)
2002
18
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (10944848)
2000
19
A case of adult type galactosialidosis with involvement of peripheral nerves. (11081812)
2000
20
Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern. (10632112)
2000
21
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites. (10399100)
1999
22
A case with early infantile form of galactosialidosis with unusual haematological findings. (10399101)
1999
23
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. (10377011)
1999
24
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
25
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. (9762607)
1998
26
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
27
Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. (9480870)
1998
28
Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency). (9437536)
1997
29
Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. (9006654)
1997
30
Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient. (8862621)
1996
31
Galactosialidosis in two siblings. (8819626)
1996
32
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families. (8725271)
1996
33
Homologous modeling of the lysosomal protective protein/carboxypeptidase L: structural and functional implications of mutations identified in galactosialidosis patients. (8146124)
1994
34
The biochemistry and clinical features of galactosialidosis. (8312369)
1994
35
Conjunctival biopsy in adult form galactosialidosis. (8384473)
1993
36
Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. (8216548)
1993
37
Genetic advances in galactosialidosis]. (8411708)
1993
38
Protective protein gene mutations in galactosialidosis. (8514852)
1993
39
Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts. (1497621)
1992
40
Late-infantile type galactosialidosis. Histopathology of the retina and optic nerve. (1901485)
1991
41
Acid carboxypeptidase deficiency in galactosialidosis. (1920915)
1991
42
Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis. (2115076)
1990
43
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
44
A comparative study of the accumulated sialic acid-containing oligosaccharides from cultured human galactosialidosis and sialidosis fibroblasts. (3134148)
1988
45
Prenatal diagnosis of galactosialidosis. (3129707)
1988
46
Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts. (3107551)
1987
47
Clinical heterogeneity in infantile galactosialidosis. (3119343)
1987
48
Involvement of thiol proteases in galactosialidosis. (3084137)
1986
49
Sialidosis with partial B-galactosidase deficiency (galactosialidosis). (6242967)
1984
50
Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules. (6816485)
1982

Variations for Galactosialidosis

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UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:

64 (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

Clinvar genetic disease variations for Galactosialidosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1CTSANM_000308.2(CTSA): c.284delC (p.Pro95Leufs)deletionPathogenicGRCh37Chr 20, 44520590: 44520590
2NM_000308.2(CTSA): c.200A> G (p.Gln67Arg)single nucleotide variantPathogenicrs137854541GRCh37Chr 20, 44520353: 44520353
3CTSANM_000308.2(CTSA): c.247T> C (p.Trp83Arg)single nucleotide variantPathogenicrs28934603GRCh37Chr 20, 44520400: 44520400
4CTSANM_000308.2(CTSA): c.323C> T (p.Ser108Leu)single nucleotide variantPathogenicrs137854542GRCh37Chr 20, 44520629: 44520629
5CTSANM_000308.2(CTSA): c.1238A> G (p.Tyr413Cys)single nucleotide variantPathogenicrs137854543GRCh37Chr 20, 44526375: 44526375
6CTSANM_000308.2(CTSA): c.799T> A (p.Tyr267Asn)single nucleotide variantPathogenicrs137854544GRCh37Chr 20, 44522679: 44522679
7CTSANM_000308.2(CTSA): c.448G> A (p.Val150Met)single nucleotide variantPathogenicrs137854545GRCh37Chr 20, 44521073: 44521073

Expression for genes affiliated with Galactosialidosis

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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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Pathways related to Galactosialidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
9.9GLB1, GLA
29.4NEU1, GLA, GLB1, CTSA
38.3NEU1, NEU2, NEU4, NEU3, GLB1
4
Show member pathways
7.8NEU1, NEU2, NEU4, NEU3, GLA, GLB1
5
Show member pathways
7.8CTSA, GLB1, GLA, NEU3, NEU4, NEU2

Compounds for genes affiliated with Galactosialidosis

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Sources:
24HMDB, 44Novoseek
See all sources

Compounds related to Galactosialidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1N-Acetylneuraminic acid248.9NEU2, NEU4, NEU3, NEU1
2Ganglioside GA2 (d18:1/20:0)248.7NEU3, NEU4, NEU2, NEU1, GLB1
3Ganglioside GA2 (d18:1/12:0)248.7NEU3, GLB1, NEU4, NEU2, NEU1
4Ganglioside GA2 (d18:1/22:0)248.7GLB1, NEU2, NEU1, NEU3, NEU4
5Ganglioside GA2 (d18:1/24:0)248.7GLB1, NEU3, NEU4, NEU2, NEU1
6Ganglioside GA2 (d18:1/18:0)248.7NEU1, NEU2, NEU4, NEU3, GLB1
7Ganglioside GA2 (d18:1/16:0)248.7NEU1, NEU2, NEU4, NEU3, GLB1
8Ganglioside GA2 (d18:1/24:1(15Z))248.7GLB1, NEU3, NEU4, NEU2, NEU1
9Ganglioside GA2 (d18:1/26:0)248.7NEU2, NEU1, NEU4, NEU3, GLB1
10Ganglioside GA2 (d18:1/26:1(17Z))248.7GLB1, NEU3, NEU4, NEU2, NEU1
11Ganglioside GA2 (d18:1/9Z-18:1)248.7GLB1, NEU3, NEU4, NEU2, NEU1
12Ganglioside GA2 (d18:1/25:0)248.7GLB1, NEU3, NEU4, NEU2, NEU1
13Ganglioside GM1 (d18:1/24:1(15Z))248.7NEU1, NEU2, NEU4, NEU3, GLB1
14Ganglioside GM1 (d18:1/24:0)248.6NEU1, NEU2, NEU4, NEU3, GLB1
15Ganglioside GM1 (18:1/9Z-18:1)248.6NEU1, NEU2, NEU4, NEU3, GLB1
16Ganglioside GM1 (d18:1/25:0)248.6GLB1, NEU3, NEU4, NEU1, NEU2
17Ganglioside GM1 (d18:1/26:1(17Z)))248.6NEU2, NEU4, NEU3, GLB1, NEU1
18Ganglioside GM1 (d18:1/26:0)248.6NEU1, NEU2, NEU4, NEU3, GLB1
19Ganglioside GM1 (18:1/12:0)248.6GLB1, NEU1, NEU2, NEU4, NEU3
20Ganglioside GM1 (18:1/18:0)248.6NEU3, GLB1, NEU4, NEU2, NEU1
21Ganglioside GM1 (18:1/16:0)248.6NEU1, NEU2, NEU4, NEU3, GLB1
22ganglioside448.6GLA, NEU3, NEU2, NEU1, GLB1
23Ganglioside GM1 (18:1/22:0)248.6NEU1, NEU2, NEU4, NEU3, GLB1
24Ganglioside GM1 (18:1/20:0)248.6GLB1, NEU3, NEU4, NEU2, NEU1
25Ganglioside GM2 (d18:1/26:0)248.6NEU3, GLB1, NEU4, NEU2, NEU1
26Ganglioside GM2 (d18:1/25:0)248.6NEU1, NEU2, NEU4, NEU3, GLB1
27Ganglioside GM2 (d18:1/24:1(15Z))248.6NEU1, NEU2, NEU4, NEU3, GLB1
28Ganglioside GM2 (d18:1/9Z-18:1)248.6NEU1, NEU2, NEU4, NEU3, GLB1
29Ganglioside GM2 (d18:1/26:1(17Z))248.6NEU1, NEU2, NEU4, NEU3, GLB1
30Ganglioside GM2 (d18:1/12:0)248.6GLB1, NEU1, NEU2, NEU4, NEU3
31Ganglioside GM2 (d18:1/18:0)248.5GLB1, NEU3, NEU4, NEU2, NEU1
32Ganglioside GM3 (d18:1/12:0)248.5NEU3, NEU4, NEU2, NEU1
33Ganglioside GM2 (d18:1/16:0)248.5NEU1, NEU2, NEU4, NEU3, GLB1
34Ganglioside GM2 (d18:1/24:0)248.5NEU1, NEU2, NEU4, NEU3, GLB1
35Galactosylceramide (d18:1/20:0)248.5GLA, NEU3, NEU4, NEU2, NEU1
36Ganglioside GM2 (d18:1/22:0)248.5NEU1, NEU2, NEU4, NEU3, GLB1
37Galactosylceramide (d18:1/18:1(9Z))248.5NEU1, NEU2, NEU4, NEU3, GLA
38Galactosylceramide (d18:1/22:0)248.5NEU3, GLA, NEU4, NEU2, NEU1
39Galactosylceramide (d18:1/24:1(15Z))248.4NEU4, NEU1, NEU2, NEU3, GLA
40Ganglioside GM3 (d18:1/16:0)248.4NEU1, NEU3, NEU4, NEU2
41Galactosylceramide (d18:1/16:0)248.4GLA, NEU3, NEU4, NEU2, NEU1
42Lactosylceramide (d18:1/26:0)248.4GLB1, GLA, NEU3, NEU4, NEU2, NEU1
43Lactosylceramide (d18:1/16:0)248.4NEU3, GLB1, GLA, NEU4, NEU2, NEU1
44Lactosylceramide (d18:1/26:1(17Z))248.4NEU1, GLB1, GLA, NEU3, NEU4, NEU2
45Lactosylceramide (d18:1/25:0)248.4GLA, NEU3, NEU4, NEU2, NEU1, GLB1
46Lactosylceramide (d18:1/24:1(15Z))248.4NEU1, NEU2, GLB1, GLA, NEU3, NEU4
47Lactosylceramide (d18:1/12:0)248.4GLB1, GLA, NEU3, NEU4, NEU2, NEU1
48Galactosylceramide (d18:1/18:0)248.4GLA, NEU3, NEU4, NEU2, NEU1
49Galactosylceramide (d18:1/26:1(17Z))248.3NEU1, NEU2, NEU4, NEU3, GLA
50Ganglioside GM3 (d18:1/18:0)248.2NEU1, NEU2, NEU4, NEU3

GO Terms for genes affiliated with Galactosialidosis

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Cellular components related to Galactosialidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1CTSA, GLA, NEU4, NEU1
2lysosomal lumenGO:0432028.5CTSA, GLB1, GLA, NEU4, NEU1

Biological processes related to Galactosialidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:0066898.5NEU3, NEU4, NEU2
2oligosaccharide catabolic processGO:0093138.4NEU1, NEU2, NEU4, NEU3
3glycosphingolipid metabolic processGO:0066877.8CTSA, NEU1, NEU2, NEU4, NEU3, GLA
4sphingolipid metabolic processGO:0066657.8NEU1, NEU2, NEU4, NEU3, GLA, GLB1
5small molecule metabolic processGO:0442817.8NEU2, NEU4, NEU3, GLA, GLB1, CTSA

Molecular functions related to Galactosialidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1galactoside bindingGO:0169369.9GLB1, GLA
2exo-alpha-(2->3)-sialidase activityGO:0527948.6NEU3, NEU1, NEU2, NEU4
3exo-alpha-(2->8)-sialidase activityGO:0527968.5NEU1, NEU2, NEU4, NEU3
4exo-alpha-sialidase activityGO:0043088.5NEU1, NEU4, NEU3
5exo-alpha-(2->6)-sialidase activityGO:0527958.4NEU1, NEU2, NEU4, NEU3

Products for genes affiliated with Galactosialidosis

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet