MCID: GLC012
MIFTS: 49

Galactosialidosis malady

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

Aliases & Classifications for Galactosialidosis

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Galactosialidosis:

Name: Galactosialidosis 49 11 45 22 23 51 67 65
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 45 23 51 67
Goldberg Syndrome 45 23 51 67
Ppca Deficiency 45 23 67
Lysosomal Protective Protein Deficiency 23 67
Gsl 45 67
Neuraminidase/beta-Galactosidase Expression 45
 
Lysosomal Protective Protein Deficiency of 45
Protective Protein/cathepsin a Deficiency 45
Protective Protein Cathepsin a Deficiency 67
Cathepsin a Deficiency of 45
Deficiency of Cathepsin a 23
Cathepsin a Deficiency 67
Cathepsin a 11

Characteristics:

Orphanet epidemiological data:

51
galactosialidosis:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

61
galactosialidosis:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 256540
Orphanet51 351
ICD10 via Orphanet28 E77.1
MESH via Orphanet37 C536411
UMLS via Orphanet66 C0268233
MeSH36 D016464
UMLS65 C0268233

Summaries for Galactosialidosis

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OMIM:49 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 cognitive impairment, opacification of the corneal stroma and short stature. 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.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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:68 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:

 51 (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 20)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 opacification of the corneal stroma hallmark (90%) HP:0007759
3 short stature hallmark (90%) HP:0004322
4 skeletal dysplasia hallmark (90%) HP:0002652
5 seizures hallmark (90%) HP:0001250
6 abnormality of the macula hallmark (90%) HP:0001103
7 hearing impairment hallmark (90%) HP:0000365
8 coarse facial features hallmark (90%) HP:0000280
9 cherry red spot of the macula HP:0010729
10 decreased beta-galactosidase activity HP:0008166
11 opacification of the corneal stroma HP:0007759
12 severe short stature HP:0003510
13 hepatosplenomegaly HP:0001433
14 seizures HP:0001250
15 intellectual disability HP:0001249
16 hemangioma HP:0001028
17 dysostosis multiplex HP:0000943
18 conjunctival telangiectasia HP:0000524
19 hearing impairment HP:0000365
20 coarse facial features HP:0000280

Drugs & Therapeutics for Galactosialidosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Krestin189

Interventional clinical trials:

idNameStatusNCT IDPhase
1Characterization of the Patient Population With GalactosialidosisRecruitingNCT01416467
2Longitudinal Studies of the GlycoproteinosesRecruitingNCT01891422
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 Galactosialidosis22 CTSA

Anatomical Context for Galactosialidosis

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MalaCards organs/tissues related to Galactosialidosis:

33
Bone, Bone marrow, Skin, Liver, Prostate, Eye, Thyroid

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
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on I^-galactosidase activities in fibroblasts. (26259553)
2015
2
A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene - Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination. (25075748)
2014
3
Ultrastructural change of ligamentum flavum in galactosialidosis. (23989749)
2013
4
Galactosialidosis: review and analysis of CTSA gene mutations. (23915561)
2013
5
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. (22386972)
2012
6
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. (22008912)
2012
7
Myoclonus and angiokeratomas in adult galactosialidosis. (21312277)
2011
8
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. (19097920)
2009
9
Galactosialidosis associated with IgA nephropathy: morphological study of renal biopsy. (18429828)
2008
10
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis. (15149881)
2004
11
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. (15084520)
2004
12
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells. (15213228)
2004
13
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
14
A case of galactosialidosis. (12932252)
2003
15
Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management. (12818943)
2003
16
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. (12023988)
2002
17
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (10944848)
2000
18
A case of adult type galactosialidosis with involvement of peripheral nerves. (11081812)
2000
19
Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern. (10632112)
2000
20
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites. (10399100)
1999
21
A case with early infantile form of galactosialidosis with unusual haematological findings. (10399101)
1999
22
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. (10377011)
1999
23
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
24
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. (9762607)
1998
25
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
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:

67 (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:

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.200A> G (p.Gln67Arg)single nucleotide variantPathogenicrs137854541GRCh37Chr 20, 44520353: 44520353
3CTSANM_000308.3(CTSA): c.247T> C (p.Trp83Arg)single nucleotide variantPathogenicrs28934603GRCh37Chr 20, 44520400: 44520400
4CTSANM_000308.3(CTSA): c.323C> T (p.Ser108Leu)single nucleotide variantPathogenicrs137854542GRCh37Chr 20, 44520629: 44520629
5CTSANM_000308.3(CTSA): c.1238A> G (p.Tyr413Cys)single nucleotide variantPathogenicrs137854543GRCh37Chr 20, 44526375: 44526375
6CTSANM_000308.3(CTSA): c.799T> A (p.Tyr267Asn)single nucleotide variantPathogenicrs137854544GRCh37Chr 20, 44522679: 44522679
7CTSANM_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:00432029.2NEU1, NEU4

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

idNameGO IDScoreTop Affiliating Genes
1ganglioside catabolic processGO:00066899.6NEU3, NEU4
2cellular protein metabolic processGO:00442677.9CTSA, NEU1, NEU2, NEU3, NEU4
3dolichol-linked oligosaccharide biosynthetic processGO:00064887.7CTSA, GLB1, NEU1, NEU2, NEU3, NEU4
4post-translational protein modificationGO:00436877.6CTSA, GLB1, NEU2, NEU3, NEU4

Sources for Galactosialidosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet