GSL
MCID: GLC012
MIFTS: 52

Galactosialidosis (GSL)

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

Aliases & Classifications for Galactosialidosis

MalaCards integrated aliases for Galactosialidosis:

Name: Galactosialidosis 57 12 53 25 59 74 37 13 40 72
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 57 53 25 59 74
Goldberg Syndrome 57 53 25 59 74
Ppca Deficiency 57 53 25 74
Lysosomal Protective Protein Deficiency 57 25 74
Gsl 57 53 74
Neuraminidase/beta-Galactosidase Expression 57 53
Protective Protein/cathepsin a Deficiency 57 53
Cathepsin a Deficiency 57 74
Neuraminidase/beta-Galactosidase Expression; Ngbe 57
Neuraminidase Beta-Galactosidase Deficiency 75
Lysosomal Protective Protein Deficiency of 53
Protective Protein Cathepsin a Deficiency 74
Cathepsin a Deficiency of 53
Deficiency of Cathepsin a 25
Ngbe 57

Characteristics:

Orphanet epidemiological data:

59
galactosialidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
galactosialidosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080540
OMIM 57 256540
KEGG 37 H00276
MeSH 44 D016464
MESH via Orphanet 45 C536411
ICD10 via Orphanet 34 E77.1
UMLS via Orphanet 73 C0268233
Orphanet 59 ORPHA351
UMLS 72 C0268233

Summaries for Galactosialidosis

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. The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (hydrops fetalis), a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen (hepatosplenomegaly). Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as "coarse." Some infants have an enlarged heart (cardiomegaly); an eye abnormality called a cherry-red spot, which can be identified with an eye examination; and kidney disease that can progress to kidney failure. Infants with this form usually are diagnosed between birth and 3 months; they typically live into late infancy. The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and "coarse" facial features. Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children with this condition typically develop symptoms within the first year of life. The life expectancy of individuals with this type varies depending on the severity of symptoms. The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different than those of the other two types. This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability. People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, "coarse" facial features, a cherry-red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. This form is typically associated with a normal life expectancy.

MalaCards based summary : Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to neuraminidase deficiency and lysosomal storage disease. An important gene associated with Galactosialidosis is CTSA (Cathepsin A), and among its related pathways/superpathways are Lysosome and Metabolism of proteins. The drug polysaccharide-K has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has material basis in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.

NIH Rare Diseases : 53 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.

OMIM : 57 Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458) and neuraminidase (608272), secondary to a defect in protective protein/cathepsin A (PPCA). 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 rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin (summary by d'Azzo et al., 2001). (256540)

KEGG : 37
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase [DS:H00142].

UniProtKB/Swiss-Prot : 74 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 : 75 Galactosialidosis is a lysosomal storage disease. This condition is rare and most cases have been in the... more...

Related Diseases for Galactosialidosis

Diseases related to Galactosialidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 neuraminidase deficiency 30.6 NEU1 GLB1 CTSA
2 lysosomal storage disease 30.5 NEU1 GLB1 CTSA
3 scheie syndrome 29.8 GLB1 CTSA
4 glycoproteinosis 29.6 NEU2 NEU1 GLB1 CTSA
5 shprintzen-goldberg craniosynostosis syndrome 12.5
6 omphalocele, autosomal 11.2
7 craniosynostosis 10.5
8 ataxia and polyneuropathy, adult-onset 10.4
9 myoclonus 10.4
10 pancreatic cancer 10.4
11 neutropenia 10.4
12 stomatitis 10.4
13 alacrima, achalasia, and mental retardation syndrome 10.3
14 marfan syndrome 10.3
15 loeys-dietz syndrome 10.3
16 hydrocephalus 10.3
17 congenital hydrocephalus 10.3
18 angiokeratoma 10.3
19 gangliosidosis 10.3
20 scoliosis 10.2
21 gm1 gangliosidosis 10.2
22 fetal edema 10.2
23 hydrops fetalis 10.2
24 splenomegaly 10.2
25 aortic aneurysm 10.2
26 aortic valve insufficiency 10.2
27 aneurysm 10.2
28 mucositis 10.1
29 diarrhea 10.1
30 cholera 10.1
31 newcastle disease 10.1
32 mouth disease 10.1
33 avian influenza 10.1
34 toxoplasmosis 10.1
35 biliary tract cancer 10.1
36 gm1-gangliosidosis, type i 10.1
37 glycoprotein storage disease 10.1
38 mucolipidosis ii alpha/beta 10.1
39 3-methylglutaconic aciduria, type iii 10.1
40 aceruloplasminemia 10.1
41 morquio syndrome 10.1
42 hypotonia 10.1
43 mucopolysaccharidoses 10.1
44 lysosomal disease 10.1
45 orthostatic intolerance 10.1
46 umbilical hernia 10.1
47 mitral valve insufficiency 10.1
48 hypermobile ehlers-danlos syndrome 10.1
49 inclusion-cell disease 10.0 GLB1 CTSA
50 macroglossia 10.0

Graphical network of the top 20 diseases related to Galactosialidosis:



Diseases related to Galactosialidosis

Symptoms & Phenotypes for Galactosialidosis

Human phenotypes related to Galactosialidosis:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 very rare (1%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
7 abnormal vertebral morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003468
8 cherry red spot of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010729
9 hepatosplenomegaly 32 occasional (7.5%) HP:0001433
10 dysostosis multiplex 32 HP:0000943
11 opacification of the corneal stroma 32 HP:0007759
12 conjunctival telangiectasia 32 HP:0000524
13 severe short stature 32 HP:0003510
14 abnormality of the vertebral column 59 Very frequent (99-80%)
15 hemangioma 32 HP:0001028
16 visceromegaly 32 HP:0003271
17 nonimmune hydrops fetalis 32 HP:0001790
18 decreased beta-galactosidase activity 32 HP:0008166

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
mental retardation

H E E N T:
hearing loss
coarse facies
corneal clouding
conjunctival telangiectases
macular cherry red spot

G I:
usually no organomegaly
occasionally hepatosplenomegaly
vacuolated kupffer cells

Cardiac:
mitral valvular disease
aortic valvular disease

Skel:
dysostosis multiplex

Growth:
dwarfism

Skin:
widespread hemangiomas

Lab:
em of skin biopsy and peripheral blood lymphocytes shows membrane-bound fibrillogranular inclusions
elevated urine sialyloligosaccharides but no free sialic acid
neuraminidase deficiency
beta-galactosidase deficiency
decreased carboxypeptidase-l/protective protein activity

Clinical features from OMIM:

256540

Drugs & Therapeutics for Galactosialidosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
2 Characterization of the Patient Population With Galactosialidosis Completed NCT01416467

Search NIH Clinical Center for Galactosialidosis

Genetic Tests for Galactosialidosis

Anatomical Context for Galactosialidosis

MalaCards organs/tissues related to Galactosialidosis:

41
Bone, Skin, Bone Marrow, Kidney, Eye, Liver, Heart

Publications for Galactosialidosis

Articles related to Galactosialidosis:

(show top 50) (show all 250)
# Title Authors PMID Year
1
Protective protein gene mutations in galactosialidosis. 38 8 71
8514852 1993
2
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. 38 8
9762607 1998
3
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 38 8
8968752 1996
4
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families. 38 8
8725271 1996
5
Hydrops fetalis in four siblings caused by galactosialidosis. 38 8
7759227 1995
6
Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form. 38 8
2148053 1990
7
Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. 38 8
2512653 1989
8
Juvenile galactosialidosis in a white male: a new variant. 38 8
3149149 1988
9
The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis. 38 8
3142815 1988
10
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. 38 8
3136930 1988
11
Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts. 38 8
3107551 1987
12
Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes. 38 8
3080874 1986
13
Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting. 38 8
3929673 1985
14
Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient. 38 8
6432381 1984
15
Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20. 8
1605251 1992
16
Inheritance of an ovine lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase. 8
2125614 1990
17
Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. 8
3146925 1988
18
Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency). 8
3925363 1985
19
beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. 8
6435542 1984
20
Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts. 8
6422434 1984
21
Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine. 8
6881139 1983
22
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. 8
6812049 1982
23
Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency. 8
7076257 1982
24
Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts. 8
6797429 1981
25
Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors. 8
6793566 1981
26
beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts. 8
7327559 1981
27
Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family. 8
6796775 1981
28
Genetic heterogeneity in human neuraminidase deficiency. 8
6772959 1980
29
The genetic defect in the various types of human beta-galactosidase deficiency. 8
6766901 1980
30
Neuraminidase deficiency in the original patient with the Goldberg syndrome. 8
519904 1979
31
Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency. 8
477017 1979
32
Sialidosis: a review of human neuraminidase deficiency. 8
107795 1979
33
Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies. 8
96839 1978
34
beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature. 8
404231 1977
35
Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver. 8
402903 1977
36
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? 8
4278184 1974
37
Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. 8
4999185 1971
38
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study. 38
30693535 2019
39
Clinical implementation of gene panel testing for lysosomal storage diseases. 38
30548430 2019
40
A new heterozygous compound mutation in the CTSA gene in galactosialidosis. 38
31044084 2019
41
UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. 38
30201803 2018
42
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. 38
28822227 2018
43
Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene. 38
30010039 2018
44
New CTSA mutation in early infantile galactosialidosis. 38
29987886 2018
45
Turning the backbone into an ankylosed concrete-like structure: Case report. 38
29642148 2018
46
[Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis]. 38
29333829 2018
47
Dental Management of a Young Child Affected by Galactosialidosis and a Gigantic Abdominal Growth. 38
29808128 2018
48
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. 38
29445937 2018
49
[Development of Enzyme Drugs Derived from Transgenic Silkworms to Treat Lysosomal Diseases]. 38
29962464 2018
50
Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism. 38
29876240 2017

Variations for Galactosialidosis

ClinVar genetic disease variations for Galactosialidosis:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CTSA NM_000308.3(CTSA): c.746+3A> G single nucleotide variant Pathogenic rs786200859 20:44521953-44521953 20:45893314-45893314
2 CTSA NM_000308.3(CTSA): c.200A> G (p.Gln67Arg) single nucleotide variant Pathogenic rs137854541 20:44520353-44520353 20:45891714-45891714
3 CTSA NM_000308.3(CTSA): c.247T> C (p.Trp83Arg) single nucleotide variant Pathogenic rs28934603 20:44520400-44520400 20:45891761-45891761
4 CTSA NM_000308.3(CTSA): c.323C> T (p.Ser108Leu) single nucleotide variant Pathogenic rs137854542 20:44520629-44520629 20:45891990-45891990
5 CTSA NM_000308.3(CTSA): c.1238A> G (p.Tyr413Cys) single nucleotide variant Pathogenic rs137854543 20:44526375-44526375 20:45897736-45897736
6 CTSA NM_000308.3(CTSA): c.799T> A (p.Tyr267Asn) single nucleotide variant Pathogenic rs137854544 20:44522679-44522679 20:45894040-45894040
7 CTSA NM_000308.3(CTSA): c.448G> A (p.Val150Met) single nucleotide variant Pathogenic rs137854545 20:44521073-44521073 20:45892434-45892434
8 CTSA NM_000308.3(CTSA): c.284del (p.Pro95fs) deletion Pathogenic rs587779402 20:44520590-44520590 20:45891951-45891951
9 CTSA NM_000308.3(CTSA): c.887_888del (p.Tyr296fs) deletion Pathogenic rs875989777 20:44523344-44523345 20:45894705-45894706
10 CTSA NM_000308.3(CTSA): c.105_108delinsC (p.Leu37del) indel Conflicting interpretations of pathogenicity rs886039898 20:44520258-44520261 20:45891619-45891622
11 CTSA NM_000308.3(CTSA): c.-292T> C single nucleotide variant Uncertain significance rs554749359 20:44519673-44519673 20:45891034-45891034
12 CTSA NM_000308.3(CTSA): c.-238del deletion Uncertain significance rs554760054 20:44519727-44519727 20:45891088-45891088
13 CTSA NM_000308.3(CTSA): c.-237del deletion Uncertain significance rs886056711 20:44519728-44519728 20:45891089-45891089
14 CTSA NM_000308.3(CTSA): c.-52G> A single nucleotide variant Uncertain significance rs373024722 20:44519913-44519913 20:45891274-45891274
15 CTSA NM_000308.3(CTSA): c.13C> T (p.Pro5Ser) single nucleotide variant Uncertain significance rs765245462 20:44519977-44519977 20:45891338-45891338
16 CTSA NM_000308.3(CTSA): c.522C> T (p.Ala174=) single nucleotide variant Uncertain significance rs190565374 20:44521387-44521387 20:45892748-45892748
17 CTSA NM_000308.3(CTSA): c.*320G> A single nucleotide variant Uncertain significance rs568876316 20:44527409-44527409 20:45898770-45898770
18 CTSA NM_000308.3(CTSA): c.169C> G (p.Pro57Ala) single nucleotide variant Uncertain significance 20:44520322-44520322 20:45891683-45891683
19 CTSA NM_000308.3(CTSA): c.1143-3C> A single nucleotide variant Uncertain significance 20:44525601-44525601 20:45896962-45896962
20 CTSA NM_000308.3(CTSA): c.822C> A (p.Cys274Ter) single nucleotide variant Uncertain significance 20:44522702-44522702 20:45894063-45894063
21 CTSA NM_000308.3(CTSA): c.49G> A (p.Ala17Thr) single nucleotide variant Uncertain significance 20:44520013-44520013 20:45891374-45891374
22 CTSA NM_000308.3(CTSA): c.373G> A (p.Gly125Ser) single nucleotide variant Uncertain significance rs886056713 20:44520924-44520924 20:45892285-45892285
23 CTSA NM_000308.3(CTSA): c.753G> A (p.Trp251Ter) single nucleotide variant Uncertain significance rs766114836 20:44522633-44522633 20:45893994-45893994
24 CTSA NM_000308.3(CTSA): c.847C> T (p.Arg283Cys) single nucleotide variant Uncertain significance rs763381306 20:44523304-44523304 20:45894665-45894665
25 CTSA NM_000308.3(CTSA): c.1090G> A (p.Val364Met) single nucleotide variant Uncertain significance rs137941635 20:44523720-44523720 20:45895081-45895081
26 CTSA NM_000308.3(CTSA): c.1113G> A (p.Pro371=) single nucleotide variant Uncertain significance rs74694805 20:44523743-44523743 20:45895104-45895104
27 CTSA NM_000308.3(CTSA): c.*266T> A single nucleotide variant Uncertain significance rs536094482 20:44527355-44527355 20:45898716-45898716
28 CTSA NM_000308.3(CTSA): c.1063G> C (p.Ala355Pro) single nucleotide variant Uncertain significance rs374059459 20:44523693-44523693 20:45895054-45895054
29 CTSA NM_000308.3(CTSA): c.412-5T> G single nucleotide variant Uncertain significance rs375266196 20:44521032-44521032 20:45892393-45892393
30 CTSA NM_000308.3(CTSA): c.823G> A (p.Val275Met) single nucleotide variant Uncertain significance rs745752655 20:44522703-44522703 20:45894064-45894064
31 CTSA NM_000308.3(CTSA): c.893C> T (p.Pro298Leu) single nucleotide variant Uncertain significance rs778824488 20:44523350-44523350 20:45894711-45894711
32 CTSA NM_000308.3(CTSA): c.-271G> A single nucleotide variant Uncertain significance rs566739434 20:44519694-44519694 20:45891055-45891055
33 CTSA NM_000308.3(CTSA): c.1420G> A (p.Gly474Ser) single nucleotide variant Uncertain significance rs200051553 20:44527012-44527012 20:45898373-45898373
34 CTSA NM_000308.3(CTSA): c.159C> T (p.Ile53=) single nucleotide variant Uncertain significance rs150140984 20:44520312-44520312 20:45891673-45891673
35 CTSA NM_000308.3(CTSA): c.747-3C> T single nucleotide variant Uncertain significance rs773034222 20:44522624-44522624 20:45893985-45893985
36 CTSA NM_000308.3(CTSA): c.1178G> A (p.Arg393Gln) single nucleotide variant Uncertain significance rs370763298 20:44525639-44525639 20:45897000-45897000
37 CTSA NM_000308.3(CTSA): c.-234C> G single nucleotide variant Uncertain significance rs558829056 20:44519731-44519731 20:45891092-45891092
38 CTSA NM_000308.3(CTSA): c.249-7dup duplication Uncertain significance rs780400265 20:44520548-44520548 20:45891909-45891909
39 CTSA NM_000308.3(CTSA): c.273C> G (p.Pro91=) single nucleotide variant Likely benign rs742035 20:44520579-44520579 20:45891940-45891940
40 CTSA NM_000308.3(CTSA): c.-172A> C single nucleotide variant Likely benign rs184484066 20:44519793-44519793 20:45891154-45891154
41 CTSA NM_000308.3(CTSA): c.-223G> A single nucleotide variant Likely benign rs117529875 20:44519742-44519742 20:45891103-45891103
42 CTSA NM_000308.3(CTSA): c.-43G> T single nucleotide variant Likely benign rs116893852 20:44519922-44519922 20:45891283-45891283
43 CTSA NM_000308.3(CTSA): c.108G> C (p.Leu36=) single nucleotide variant Likely benign rs181943893 20:44520261-44520261 20:45891622-45891622
44 CTSA NM_000308.3(CTSA): c.1407G> A (p.Thr469=) single nucleotide variant Likely benign rs25649 20:44526742-44526742 20:45898103-45898103
45 CTSA NM_000308.3(CTSA): c.87_89GCT[6] (p.Leu36_Leu37del) short repeat Benign rs72555383 20:44520258-44520263 20:45891619-45891624
46 CTSA NM_000308.3(CTSA): c.1142+10C> T single nucleotide variant Benign rs4608591 20:44523782-44523782 20:45895143-45895143
47 CTSA NM_000308.3(CTSA): c.87_89GCT[7] (p.Leu37del) short repeat Benign rs72555383 20:44520261-44520263 20:45891622-45891624
48 CTSA NM_000308.3(CTSA): c.1002+7G> A single nucleotide variant Benign rs2075961 20:44523547-44523547 20:45894908-45894908
49 CTSA NM_000308.3(CTSA): c.-322G> A single nucleotide variant Benign rs2868362 20:44519643-44519643 20:45891004-45891004

UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:

74 (show all 12)
# Symbol AA change Variation ID SNP ID
1 CTSA p.Gln49Arg VAR_001385 rs137854541
2 CTSA p.Trp65Arg VAR_001386 rs28934603
3 CTSA p.Ser90Leu VAR_001387 rs137854542
4 CTSA p.Tyr249Asn VAR_001388 rs137854544
5 CTSA p.Tyr395Cys VAR_001389 rs137854543
6 CTSA p.Phe440Val VAR_001390 rs137854540
7 CTSA p.Ser51Tyr VAR_063018 rs538562022
8 CTSA p.Val132Met VAR_063019 rs137854545
9 CTSA p.Leu236Pro VAR_063020 rs137854546
10 CTSA p.Met406Thr VAR_063021 rs137854548
11 CTSA p.Gly439Ser VAR_063022 rs137854547
12 CTSA p.Lys453Glu VAR_063023 rs137854549

Expression for Galactosialidosis

Search GEO for disease gene expression data for Galactosialidosis.

Pathways for Galactosialidosis

Pathways related to Galactosialidosis according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Galactosialidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
2
Show member pathways
12.62 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
3
Show member pathways
12.04 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
4
Show member pathways
11.72 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
5 11.59 NEU1 GLB1 CTSA
6 10.28 NEU4 NEU3 NEU2 NEU1 GLB1

GO Terms for Galactosialidosis

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.46 NEU4 NEU1 GLB1 CTSA
2 intracellular membrane-bounded organelle GO:0043231 9.43 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
3 azurophil granule lumen GO:0035578 9.26 GLB1 CTSA
4 lysosomal lumen GO:0043202 8.92 NEU4 NEU1 GLB1 CTSA

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.72 NEU4 NEU3 NEU2 NEU1 GLB1
2 lipid metabolic process GO:0006629 9.71 NEU4 NEU3 NEU2 NEU1
3 lipid catabolic process GO:0016042 9.67 NEU4 NEU3 NEU2 NEU1
4 metabolic process GO:0008152 9.65 NEU4 NEU3 NEU2 NEU1 GLB1
5 neutrophil degranulation GO:0043312 9.61 NEU1 GLB1 CTSA
6 oligosaccharide catabolic process GO:0009313 9.46 NEU4 NEU3 NEU2 NEU1
7 ganglioside catabolic process GO:0006689 9.26 NEU4 NEU3 NEU2 NEU1
8 glycosphingolipid metabolic process GO:0006687 9.1 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.73 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.35 NEU4 NEU3 NEU2 NEU1 GLB1
3 alpha-sialidase activity GO:0016997 9.16 NEU3 NEU1
4 exo-alpha-sialidase activity GO:0004308 8.92 NEU4 NEU3 NEU2 NEU1

Sources for Galactosialidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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