GSL
MCID: GLC012
MIFTS: 55

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 56 12 52 25 58 73 36 13 15 39 71
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 56 52 25 58 73
Goldberg Syndrome 56 52 25 58 73
Ppca Deficiency 56 52 25 73
Lysosomal Protective Protein Deficiency 56 25 73
Gsl 56 52 73
Neuraminidase/beta-Galactosidase Expression 56 52
Protective Protein/cathepsin a Deficiency 56 52
Cathepsin a Deficiency 56 73
Neuraminidase/beta-Galactosidase Expression; Ngbe 56
Neuraminidase Beta-Galactosidase Deficiency 74
Lysosomal Protective Protein Deficiency of 52
Protective Protein Cathepsin a Deficiency 73
Cathepsin a Deficiency of 52
Deficiency of Cathepsin a 25
Ngbe 56

Characteristics:

Orphanet epidemiological data:

58
galactosialidosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
galactosialidosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism


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 angiokeratoma. An important gene associated with Galactosialidosis is CTSA (Cathepsin A), and among its related pathways/superpathways are Lysosome and Metabolism. 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 coarse facial features and hearing impairment

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 : 52 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 : 56 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 : 36 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 : 73 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 : 74 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 149)
# Related Disease Score Top Affiliating Genes
1 neuraminidase deficiency 30.9 PSAP NEU1 GLB1 CTSA
2 angiokeratoma 30.7 NEU1 CTSA
3 hydrops fetalis, nonimmune 30.4 THSD1 NEU1
4 gm1-gangliosidosis, type i 30.4 PSAP NEU1 GLB1
5 mucopolysaccharidoses 30.3 IDUA ARSH
6 gangliosidosis 30.1 PSAP NEU1 GLB1 GALNS CTSA
7 morquio syndrome 29.9 NEU1 GLB1 GALNS CTSA ARSH
8 mucolipidosis ii alpha/beta 29.7 SLC17A5 PSAP M6PR ARSH
9 scheie syndrome 29.5 IDUA GLB1 GALNS ARSH
10 lysosomal storage disease 29.2 PSAP NEU1 M6PR IDUA GLB1 GALNS
11 glycoproteinosis 28.9 SLC17A5 PSAP NEU4 NEU3 NEU2 NEU1
12 gm1 gangliosidosis 28.7 SLC17A5 PSAP NEU1 IDUA GLB1 GALNS
13 mucopolysaccharidosis-plus syndrome 28.3 SLC17A5 NEU1 M6PR IDUA GLB1 GALNS
14 mucolipidosis 27.8 SLC17A5 PSAP NEU4 NEU3 NEU2 NEU1
15 shprintzen-goldberg craniosynostosis syndrome 12.5
16 omphalocele, autosomal 11.2
17 craniosynostosis 10.5
18 myoclonus 10.4
19 ataxia and polyneuropathy, adult-onset 10.4
20 pancreatic cancer 10.4
21 neutropenia 10.4
22 stomatitis 10.4
23 clear cell adenocarcinoma of the ovary 10.3 NEU3 NEU1
24 gm1-gangliosidosis, type iii 10.3 GLB1 CTSA
25 atrophic rhinitis 10.3 NEU1 CTSA
26 marfan syndrome 10.3
27 alacrima, achalasia, and mental retardation syndrome 10.3
28 loeys-dietz syndrome 10.3
29 skin hemangioma 10.3 NEU1 CTSA
30 gm2-gangliosidosis, ab variant 10.2 NEU4 NEU3 GLB1
31 gm1-gangliosidosis, type ii 10.2 GLB1 GALNS
32 splenomegaly 10.2
33 scoliosis 10.2
34 hydrocephalus 10.2
35 cerebral lipidosis 10.2 M6PR GLB1
36 aortic aneurysm 10.1
37 aneurysm 10.1
38 mucositis 10.1
39 diarrhea 10.1
40 cholera 10.1
41 newcastle disease 10.1
42 mouth disease 10.1
43 avian influenza 10.1
44 toxoplasmosis 10.1
45 biliary tract cancer 10.1
46 glycoprotein storage disease 10.1
47 3-methylglutaconic aciduria, type iii 10.1
48 hypotonia 10.1
49 lysosomal disease 10.1
50 sandhoff disease 10.1 PSAP GLB1 CTSA

Graphical network of the top 20 diseases related to Galactosialidosis:



Diseases related to Galactosialidosis

Symptoms & Phenotypes for Galactosialidosis

Human phenotypes related to Galactosialidosis:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
6 abnormal vertebral morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003468
7 cherry red spot of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0010729
8 seizure 31 hallmark (90%) HP:0001250
9 hepatosplenomegaly 31 occasional (7.5%) HP:0001433
10 seizures 58 Very frequent (99-80%)
11 dysostosis multiplex 31 HP:0000943
12 opacification of the corneal stroma 31 HP:0007759
13 conjunctival telangiectasia 31 HP:0000524
14 abnormality of the vertebral column 58 Very frequent (99-80%)
15 hemangioma 31 HP:0001028
16 visceromegaly 31 HP:0003271
17 severe short stature 31 HP:0003510
18 decreased beta-galactosidase activity 31 HP:0008166
19 nonimmune hydrops fetalis 31 HP:0001790

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Galactosialidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 AARS2 CTSA EDN1 GLB1 IDUA M6PR
2 homeostasis/metabolism MP:0005376 9.77 CTSA EDN1 GALNS GLB1 IDUA M6PR
3 renal/urinary system MP:0005367 9.23 CTSA EDN1 GALNS GLB1 IDUA M6PR

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 A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway Recruiting NCT04221451 Phase 3 venglustat GZ402671;placebo
2 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
3 Characterization of the Patient Population With Galactosialidosis Completed NCT01416467
4 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

Search NIH Clinical Center for Galactosialidosis

Genetic Tests for Galactosialidosis

Anatomical Context for Galactosialidosis

MalaCards organs/tissues related to Galactosialidosis:

40
Bone, Skin, Bone Marrow, Kidney, Eye, Liver, Heart

Publications for Galactosialidosis

Articles related to Galactosialidosis:

(show top 50) (show all 255)
# Title Authors PMID Year
1
Protective protein gene mutations in galactosialidosis. 6 56 61
8514852 1993
2
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. 61 56
9762607 1998
3
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 61 56
8968752 1996
4
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families. 61 56
8725271 1996
5
Hydrops fetalis in four siblings caused by galactosialidosis. 61 56
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. 61 56
2148053 1990
7
Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. 61 56
2512653 1989
8
Juvenile galactosialidosis in a white male: a new variant. 61 56
3149149 1988
9
The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis. 61 56
3142815 1988
10
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. 61 56
3136930 1988
11
Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts. 56 61
3107551 1987
12
Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes. 61 56
3080874 1986
13
Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting. 61 56
3929673 1985
14
Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient. 61 56
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. 56
1605251 1992
16
Inheritance of an ovine lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase. 56
2125614 1990
17
Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. 56
3146925 1988
18
Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency). 56
3925363 1985
19
beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. 56
6435542 1984
20
Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts. 56
6422434 1984
21
Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine. 56
6881139 1983
22
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. 56
6812049 1982
23
Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency. 56
7076257 1982
24
Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts. 56
6797429 1981
25
Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors. 56
6793566 1981
26
Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family. 56
6796775 1981
27
beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts. 56
7327559 1981
28
Genetic heterogeneity in human neuraminidase deficiency. 56
6772959 1980
29
The genetic defect in the various types of human beta-galactosidase deficiency. 56
6766901 1980
30
Neuraminidase deficiency in the original patient with the Goldberg syndrome. 56
519904 1979
31
Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency. 56
477017 1979
32
Sialidosis: a review of human neuraminidase deficiency. 56
107795 1979
33
Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies. 56
96839 1978
34
beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature. 56
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. 56
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? 56
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. 56
4999185 1971
38
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases. 61
32517081 2020
39
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
40
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant. 61
32199059 2020
41
Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis. 61
32551145 2020
42
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. 61
31776384 2019
43
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study. 61
30693535 2019
44
Clinical implementation of gene panel testing for lysosomal storage diseases. 61
30548430 2019
45
A new heterozygous compound mutation in the CTSA gene in galactosialidosis. 61
31044084 2019
46
UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. 61
30201803 2018
47
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. 61
28822227 2018
48
Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5'-splice site mutation of human cathepsin A gene. 61
30010039 2018
49
New CTSA mutation in early infantile galactosialidosis. 61
29987886 2018
50
Turning the backbone into an ankylosed concrete-like structure: Case report. 61
29642148 2018

Variations for Galactosialidosis

ClinVar genetic disease variations for Galactosialidosis:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTSA NM_000308.3(CTSA):c.746+3A>GSNV Pathogenic 376 rs786200859 20:44521953-44521953 20:45893314-45893314
2 CTSA NM_000308.3(CTSA):c.200A>G (p.Gln67Arg)SNV Pathogenic 377 rs137854541 20:44520353-44520353 20:45891714-45891714
3 CTSA NM_000308.3(CTSA):c.247T>C (p.Trp83Arg)SNV Pathogenic 378 rs28934603 20:44520400-44520400 20:45891761-45891761
4 CTSA NM_000308.3(CTSA):c.323C>T (p.Ser108Leu)SNV Pathogenic 379 rs137854542 20:44520629-44520629 20:45891990-45891990
5 CTSA NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys)SNV Pathogenic 380 rs137854543 20:44526375-44526375 20:45897736-45897736
6 CTSA NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn)SNV Pathogenic 381 rs137854544 20:44522679-44522679 20:45894040-45894040
7 CTSA NM_000308.3(CTSA):c.448G>A (p.Val150Met)SNV Pathogenic 383 rs137854545 20:44521073-44521073 20:45892434-45892434
8 CTSA NM_000308.3(CTSA):c.284del (p.Pro95fs)deletion Pathogenic 100724 rs587779402 20:44520588-44520588 20:45891949-45891949
9 CTSA NM_000308.3(CTSA):c.887_888del (p.Tyr296fs)deletion Pathogenic 225877 rs875989777 20:44523343-44523344 20:45894704-45894705
10 CTSA NM_000308.4(CTSA):c.601-2A>GSNV Likely pathogenic 800944 20:44521857-44521857 20:45893218-45893218
11 CTSA NM_000308.3(CTSA):c.108G>C (p.Leu36=)SNV Conflicting interpretations of pathogenicity 459632 rs181943893 20:44520261-44520261 20:45891622-45891622
12 CTSA NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del)indel Conflicting interpretations of pathogenicity 266025 rs886039898 20:44520258-44520261 20:45891619-45891622
13 CTSA NM_000308.3(CTSA):c.1113G>A (p.Pro371=)SNV Conflicting interpretations of pathogenicity 338537 rs74694805 20:44523743-44523743 20:45895104-45895104
14 CTSA NM_000308.3(CTSA):c.249-7dupduplication Uncertain significance 338525 rs780400265 20:44520542-44520543 20:45891903-45891904
15 CTSA NM_000308.3(CTSA):c.373G>A (p.Gly125Ser)SNV Uncertain significance 338527 rs886056713 20:44520924-44520924 20:45892285-45892285
16 CTSA NM_000308.3(CTSA):c.753G>A (p.Trp251Ter)SNV Uncertain significance 338531 rs766114836 20:44522633-44522633 20:45893994-45893994
17 CTSA NM_000308.3(CTSA):c.847C>T (p.Arg283Cys)SNV Uncertain significance 338533 rs763381306 20:44523304-44523304 20:45894665-45894665
18 CTSA NM_006227.4(PLTP):c.*225A>TSNV Uncertain significance 338542 rs536094482 20:44527355-44527355 20:45898716-45898716
19 CTSA NM_000308.4(CTSA):c.692+13G>ASNV Uncertain significance 898719 20:44521963-44521963 20:45893324-45893324
20 CTSA NM_000308.4(CTSA):c.1164+7G>ASNV Uncertain significance 896025 20:44525686-44525686 20:45897047-45897047
21 CTSA NM_000308.3(CTSA):c.412-5T>GSNV Uncertain significance 338528 rs375266196 20:44521032-44521032 20:45892393-45892393
22 CTSA NM_000308.3(CTSA):c.823G>A (p.Val275Met)SNV Uncertain significance 338532 rs745752655 20:44522703-44522703 20:45894064-45894064
23 CTSA NM_000308.3(CTSA):c.893C>T (p.Pro298Leu)SNV Uncertain significance 338534 rs778824488 20:44523350-44523350 20:45894711-45894711
24 CTSA NM_006227.4(PLTP):c.*171C>TSNV Uncertain significance 338543 rs568876316 20:44527409-44527409 20:45898770-45898770
25 CTSA NM_080749.3(NEURL2):c.-64C>TSNV Uncertain significance 338515 rs566739434 20:44519694-44519694 20:45891055-45891055
26 CTSA NM_000308.3(CTSA):c.1420G>A (p.Gly474Ser)SNV Uncertain significance 338541 rs200051553 20:44527012-44527012 20:45898373-45898373
27 CTSA NM_000308.3(CTSA):c.747-3C>TSNV Uncertain significance 338530 rs773034222 20:44522624-44522624 20:45893985-45893985
28 CTSA NM_000308.3(CTSA):c.1178G>A (p.Arg393Gln)SNV Uncertain significance 338539 rs370763298 20:44525639-44525639 20:45897000-45897000
29 CTSA NM_080749.3(NEURL2):c.-101G>CSNV Uncertain significance 338518 rs558829056 20:44519731-44519731 20:45891092-45891092
30 CTSA NM_080749.3(NEURL2):c.-43A>GSNV Uncertain significance 338514 rs554749359 20:44519673-44519673 20:45891034-45891034
31 CTSA NM_080749.3(NEURL2):c.-92deldeletion Uncertain significance 338516 rs554760054 20:44519722-44519722 20:45891083-45891083
32 CTSA NM_080749.3(NEURL2):c.-98deldeletion Uncertain significance 338517 rs886056711 20:44519728-44519728 20:45891089-45891089
33 CTSA NM_080749.3(NEURL2):c.-283C>TSNV Uncertain significance 338521 rs373024722 20:44519913-44519913 20:45891274-45891274
34 CTSA NM_000308.3(CTSA):c.13C>T (p.Pro5Ser)SNV Uncertain significance 338523 rs765245462 20:44519977-44519977 20:45891338-45891338
35 CTSA NM_000308.3(CTSA):c.1063G>C (p.Ala355Pro)SNV Uncertain significance 529231 rs374059459 20:44523693-44523693 20:45895054-45895054
36 CTSA NM_000308.3(CTSA):c.169C>G (p.Pro57Ala)SNV Uncertain significance 569696 rs1483740187 20:44520322-44520322 20:45891683-45891683
37 CTSA NM_000308.3(CTSA):c.1143-3C>ASNV Uncertain significance 572703 rs764115103 20:44525601-44525601 20:45896962-45896962
38 CTSA NM_000308.3(CTSA):c.822C>A (p.Cys274Ter)SNV Uncertain significance 632374 rs767712946 20:44522702-44522702 20:45894063-45894063
39 CTSA NM_000308.3(CTSA):c.49G>A (p.Ala17Thr)SNV Uncertain significance 657341 20:44520013-44520013 20:45891374-45891374
40 CTSA NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)SNV Uncertain significance 862347 20:44521452-44521452 20:45892813-45892813
41 CTSA NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)SNV Uncertain significance 837707 20:44523526-44523526 20:45894887-45894887
42 CTSA NM_000308.4(CTSA):c.977G>A (p.Arg326His)SNV Uncertain significance 841568 20:44523661-44523661 20:45895022-45895022
43 CTSA NM_000308.4(CTSA):c.357+3A>GSNV Uncertain significance 845370 20:44520965-44520965 20:45892326-45892326
44 CTSA NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)SNV Uncertain significance 898717 20:44521367-44521367 20:45892728-45892728
45 CTSA NM_000308.4(CTSA):c.574A>C (p.Met192Leu)SNV Uncertain significance 898718 20:44521493-44521493 20:45892854-45892854
46 CTSA NM_000308.4(CTSA):c.980T>C (p.Met327Thr)SNV Uncertain significance 895744 20:44523664-44523664 20:45895025-45895025
47 CTSA NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)SNV Uncertain significance 895745 20:44523715-44523715 20:45895076-45895076
48 CTSA NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)SNV Uncertain significance 896026 20:44526731-44526731 20:45898092-45898092
49 CTSA NM_000308.4(CTSA):c.*50C>TSNV Uncertain significance 897619 20:44527139-44527139 20:45898500-45898500
50 CTSA NM_000308.4(CTSA):c.*51C>GSNV Likely benign 897620 20:44527140-44527140 20:45898501-45898501

UniProtKB/Swiss-Prot genetic disease variations for Galactosialidosis:

73 (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:

36
# 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
13.78 PSAP NEU4 NEU3 NEU2 NEU1 IDUA
2
Show member pathways
13.48 THSD1 SLC17A5 NEU4 NEU3 NEU2 NEU1
3
Show member pathways
12.8 SLC17A5 NEU4 NEU3 NEU2 NEU1 GLB1
4
Show member pathways
12.16 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
5
Show member pathways
12.09 SLC17A5 NEU4 NEU3 NEU2 NEU1 GLB1
6 11.33 SLC17A5 PSAP NEU1 M6PR IDUA GLB1
7
Show member pathways
10.8 IDUA GLB1 GALNS
8 10.61 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 extracellular region GO:0005576 9.97 THSD1 SCPEP1 PSAP NEU1 GLB1 GALNS
2 intracellular membrane-bounded organelle GO:0043231 9.7 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
3 lysosomal membrane GO:0005765 9.65 SLC17A5 PSAP NEU1 M6PR CTSA
4 azurophil granule lumen GO:0035578 9.5 GLB1 GALNS CTSA
5 lysosomal lumen GO:0043202 9.5 PSAP NEU4 NEU1 IDUA GLB1 GALNS
6 lysosome GO:0005764 9.36 SLC17A5 PSAP NEU4 NEU3 NEU2 NEU1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 PSAP NEU4 NEU3 NEU2 NEU1
2 neutrophil degranulation GO:0043312 9.8 PSAP NEU1 GLB1 GALNS CTSA
3 carbohydrate metabolic process GO:0005975 9.8 NEU4 NEU3 NEU2 NEU1 IDUA GLB1
4 metabolic process GO:0008152 9.73 NEU4 NEU3 NEU2 NEU1 IDUA GLB1
5 lipid catabolic process GO:0016042 9.67 NEU4 NEU3 NEU2 NEU1
6 glycosaminoglycan catabolic process GO:0006027 9.49 IDUA GLB1
7 lysosomal transport GO:0007041 9.48 PSAP M6PR
8 oligosaccharide catabolic process GO:0009313 9.46 NEU4 NEU3 NEU2 NEU1
9 keratan sulfate catabolic process GO:0042340 9.43 GLB1 GALNS
10 ganglioside catabolic process GO:0006689 9.26 NEU4 NEU3 NEU2 NEU1
11 glycosphingolipid metabolic process GO:0006687 9.17 PSAP NEU4 NEU3 NEU2 NEU1 GLB1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.07 SCPEP1 NEU4 NEU3 NEU2 NEU1 IDUA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.8 NEU4 NEU3 NEU2 NEU1 IDUA GLB1
3 exo-alpha-(2->8)-sialidase activity GO:0052796 9.56 NEU4 NEU3 NEU2 NEU1
4 sulfuric ester hydrolase activity GO:0008484 9.49 GALNS ARSH
5 arylsulfatase activity GO:0004065 9.48 GALNS ARSH
6 beta-galactosidase activity GO:0004565 9.46 PSAP GLB1
7 exo-alpha-(2->6)-sialidase activity GO:0052795 9.46 NEU4 NEU3 NEU2 NEU1
8 serine-type carboxypeptidase activity GO:0004185 9.43 SCPEP1 CTSA
9 alpha-sialidase activity GO:0016997 9.4 NEU3 NEU1
10 exo-alpha-(2->3)-sialidase activity GO:0052794 9.26 NEU4 NEU3 NEU2 NEU1
11 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....