GSL
MCID: GLC012
MIFTS: 56

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 20 43 58 73 36 13 15 39 71
Neuraminidase Deficiency with Beta-Galactosidase Deficiency 57 20 43 58 73
Goldberg Syndrome 57 20 43 58 73
Ppca Deficiency 57 20 43 73
Lysosomal Protective Protein Deficiency 57 43 73
Cathepsin a Deficiency 57 73 6
Gsl 57 20 73
Neuraminidase/beta-Galactosidase Expression 57 20
Protective Protein/cathepsin a Deficiency 57 20
Neuraminidase/beta-Galactosidase Expression; Ngbe 57
Neuraminidase Beta-Galactosidase Deficiency 74
Lysosomal Protective Protein Deficiency of 20
Protective Protein Cathepsin a Deficiency 73
Cathepsin a Deficiency of 20
Deficiency of Cathepsin a 43
Ngbe 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 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 angiokeratoma and hydrops fetalis, nonimmune. 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 eye, bone marrow and heart, and related phenotypes are intellectual disability and coarse facial features

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.

GARD : 20 Galactosialidosis affects many different body systems, including the brain, eyes, muscles, and skeleton. There are three different types: early infantile, late infantile and juvenile/adult. The most common type is juvenile/adult galactosialidosis. Individuals with this type start developing symptoms in adolescence. Symptoms include difficulty walking, vision problems, spine abnormalities, dark red spots on the skin, and intellectual disability that gets worse with time. Symptoms of the early infantile and late infantile types are more severe and begin in infancy or early childhood. In these types, the symptoms tend to get worse over time and are associated with decreased survival. All three types of galactosialidosis are caused by variations in the CTSA gene and are inherited in an autosomal recessive pattern. Galactosialidosis is diagnosed based on a clinical exam, the symptoms, and genetic testing. Treatment is focused on managing the symptoms.

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) (Updated 05-Mar-2021)

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, also known as Neuraminidase deficiency with beta-galactosidase deficiency, is a... more...

Related Diseases for Galactosialidosis

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

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma 30.3 NEU1 CTSA
2 hydrops fetalis, nonimmune 30.1 THSD1 NEU1 CTSA
3 morquio syndrome 30.0 NEU1 GLB1 GALNS CTSA
4 glycoproteinosis 29.7 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
5 scheie syndrome 29.6 IDUA GLB1 GALNS
6 mucolipidosis ii alpha/beta 29.6 PSAP M6PR IDUA GALNS
7 gm1-gangliosidosis, type i 29.4 PSAP GLB1 CHIT1
8 gangliosidosis 29.3 PSAP NEU1 GLB1 GALNS CTSA CHIT1
9 lysosomal storage disease 29.2 PSAP NEU1 M6PR IDUA GLB1 GALNS
10 niemann-pick disease 28.9 PSAP M6PR IDUA CHIT1
11 mucolipidosis 28.9 PSAP NEU4 NEU3 NEU2 NEU1 M6PR
12 gm1 gangliosidosis 28.8 PSAP NEU1 IDUA GLB1 GALNS CTSA
13 mucopolysaccharidosis-plus syndrome 28.4 NEU1 M6PR IDUA GLB1 GALNS CTSA
14 shprintzen-goldberg craniosynostosis syndrome 11.9
15 omphalocele, autosomal 11.0
16 craniosynostosis 10.5
17 neuraminidase deficiency 10.3
18 myoclonus 10.3
19 atrophic rhinitis 10.2 NEU1 CTSA
20 clear cell adenocarcinoma of the ovary 10.2 NEU3 NEU1
21 marfan syndrome 10.2
22 alacrima, achalasia, and mental retardation syndrome 10.2
23 loeys-dietz syndrome 10.2
24 skin hemangioma 10.2 NEU1 CTSA
25 gm1-gangliosidosis, type ii 10.2 GLB1 CTSA
26 scoliosis 10.2
27 hydrocephalus 10.2
28 pancreatic cancer 10.1
29 neutropenia 10.1
30 stomatitis 10.1
31 ataxia and polyneuropathy, adult-onset 10.1
32 aortic aneurysm 10.1
33 aneurysm 10.1
34 mongolian spot 10.1 NEU1 IDUA GLB1
35 splenomegaly 10.0
36 aspartylglucosaminuria 10.0 PSAP M6PR CTSA
37 mucopolysaccharidosis, type iiid 10.0 IDUA GALNS
38 hypertelorism 10.0
39 marfanoid hypermobility syndrome 10.0
40 orthostatic intolerance 10.0
41 umbilical hernia 10.0
42 myopia 10.0
43 aortic valve insufficiency 10.0
44 hypermobile ehlers-danlos syndrome 10.0
45 mucopolysaccharidosis, type iiic 10.0 IDUA GALNS
46 gm2-gangliosidosis, ab variant 10.0 PSAP NEU4 NEU3 GLB1
47 gm2 gangliosidosis 10.0 PSAP NEU3 NEU1 GLB1
48 glycoprotein storage disease 10.0
49 3-methylglutaconic aciduria, type iii 10.0
50 hypotonia 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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Galactosialidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.5 CHIT1 CTSA IDUA
2 Decreased viability GR00381-A-1 9.5 CHIT1 IDUA NEU1 SCPEP1
3 Decreased viability GR00386-A-1 9.5 GALNS M6PR NEU1
4 Decreased viability GR00402-S-2 9.5 CHIT1 GALNS GLB1 IDUA NEU4

MGI Mouse Phenotypes related to Galactosialidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CTSA EDN1 GALNS GLB1 IDUA M6PR
2 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 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:

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

Publications for Galactosialidosis

Articles related to Galactosialidosis:

(show top 50) (show all 257)
# Title Authors PMID Year
1
Protective protein gene mutations in galactosialidosis. 61 57 6
8514852 1993
2
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 61 6
24769197 2014
3
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis. 57 61
9762607 1998
4
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 61 57
8968752 1996
5
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families. 61 57
8725271 1996
6
Hydrops fetalis in four siblings caused by galactosialidosis. 61 57
7759227 1995
7
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. 57 61
2148053 1990
8
Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. 57 61
2512653 1989
9
Juvenile galactosialidosis in a white male: a new variant. 61 57
3149149 1988
10
The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis. 61 57
3142815 1988
11
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. 61 57
3136930 1988
12
Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts. 61 57
3107551 1987
13
Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes. 61 57
3080874 1986
14
Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting. 57 61
3929673 1985
15
Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient. 57 61
6432381 1984
16
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. 57
1605251 1992
17
Inheritance of an ovine lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase. 57
2125614 1990
18
Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. 57
3146925 1988
19
Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency). 57
3925363 1985
20
beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. 57
6435542 1984
21
Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts. 57
6422434 1984
22
Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine. 57
6881139 1983
23
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. 57
6812049 1982
24
Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency. 57
7076257 1982
25
Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts. 57
6797429 1981
26
Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors. 57
6793566 1981
27
beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts. 57
7327559 1981
28
Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family. 57
6796775 1981
29
Genetic heterogeneity in human neuraminidase deficiency. 57
6772959 1980
30
The genetic defect in the various types of human beta-galactosidase deficiency. 57
6766901 1980
31
Neuraminidase deficiency in the original patient with the Goldberg syndrome. 57
519904 1979
32
Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency. 57
477017 1979
33
Sialidosis: a review of human neuraminidase deficiency. 57
107795 1979
34
Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies. 57
96839 1978
35
beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature. 57
404231 1977
36
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. 57
402903 1977
37
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? 57
4278184 1974
38
Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. 57
4999185 1971
39
Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept. 61
33426146 2021
40
Gastrointestinal stromal tumor in perforated Meckel's diverticulum: a case report and literature review. 61
33026577 2020
41
A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. 61
32753397 2020
42
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases. 61
32517081 2020
43
Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction. 61
32774297 2020
44
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
45
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant. 61
32199059 2020
46
Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis. 61
32551145 2020
47
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. 61
31776384 2019
48
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study. 61
30693535 2019
49
Clinical implementation of gene panel testing for lysosomal storage diseases. 61
30548430 2019
50
A new heterozygous compound mutation in the CTSA gene in galactosialidosis. 61
31044084 2019

Variations for Galactosialidosis

ClinVar genetic disease variations for Galactosialidosis:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTSA NM_000308.3(CTSA):c.200A>G (p.Gln67Arg) SNV Pathogenic 377 rs137854541 20:44520353-44520353 20:45891714-45891714
2 CTSA NM_000308.3(CTSA):c.247T>C (p.Trp83Arg) SNV Pathogenic 378 rs28934603 20:44520400-44520400 20:45891761-45891761
3 CTSA NM_000308.3(CTSA):c.323C>T (p.Ser108Leu) SNV Pathogenic 379 rs137854542 20:44520629-44520629 20:45891990-45891990
4 CTSA NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys) SNV Pathogenic 380 rs137854543 20:44526375-44526375 20:45897736-45897736
5 CTSA NM_000308.3(CTSA):c.284del (p.Pro95fs) Deletion Pathogenic 100724 rs587779402 20:44520588-44520588 20:45891949-45891949
6 CTSA NM_000308.3(CTSA):c.448G>A (p.Val150Met) SNV Pathogenic 383 rs137854545 20:44521073-44521073 20:45892434-45892434
7 CTSA NM_000308.3(CTSA):c.887_888del (p.Tyr296fs) Deletion Pathogenic 225877 rs875989777 20:44523343-44523344 20:45894704-45894705
8 CTSA NM_000308.3(CTSA):c.746+3A>G SNV Pathogenic 376 rs786200859 20:44521953-44521953 20:45893314-45893314
9 CTSA NM_000308.4(CTSA):c.990dup (p.Cys331fs) Duplication Pathogenic 917637 20:44523667-44523668 20:45895028-45895029
10 CTSA NM_000308.4(CTSA):c.497del (p.Glu166fs) Deletion Pathogenic 974785 20:44521416-44521416 20:45892777-45892777
11 CTSA NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) SNV Pathogenic 381 rs137854544 20:44522679-44522679 20:45894040-45894040
12 CTSA NM_000308.4(CTSA):c.112del (p.Leu38fs) Deletion Likely pathogenic 981068 20:44520318-44520318 20:45891679-45891679
13 CTSA NM_000308.4(CTSA):c.869+1G>C SNV Likely pathogenic 966981 20:44523381-44523381 20:45894742-45894742
14 CTSA NM_000308.4(CTSA):c.601-2A>G SNV Likely pathogenic 800944 rs778159802 20:44521857-44521857 20:45893218-45893218
15 CTSA NM_000308.3(CTSA):c.108G>C (p.Leu36=) SNV Conflicting interpretations of pathogenicity 459632 rs181943893 20:44520261-44520261 20:45891622-45891622
16 CTSA NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) Indel Conflicting interpretations of pathogenicity 266025 rs886039898 20:44520258-44520261 20:45891619-45891622
17 CTSA NM_000308.3(CTSA):c.1113G>A (p.Pro371=) SNV Conflicting interpretations of pathogenicity 338537 rs74694805 20:44523743-44523743 20:45895104-45895104
18 CTSA NM_000308.3(CTSA):c.-292T>C SNV Uncertain significance 338514 rs554749359 20:44519673-44519673 20:45891034-45891034
19 CTSA NM_000308.3(CTSA):c.373G>A (p.Gly125Ser) SNV Uncertain significance 338527 rs886056713 20:44520924-44520924 20:45892285-45892285
20 CTSA NM_000308.3(CTSA):c.823G>A (p.Val275Met) SNV Uncertain significance 338532 rs745752655 20:44522703-44522703 20:45894064-45894064
21 CTSA NM_000308.3(CTSA):c.747-3C>T SNV Uncertain significance 338530 rs773034222 20:44522624-44522624 20:45893985-45893985
22 CTSA NM_000308.3(CTSA):c.-234C>G SNV Uncertain significance 338518 rs558829056 20:44519731-44519731 20:45891092-45891092
23 CTSA NM_006227.4(PLTP):c.*225A>T SNV Uncertain significance 338542 rs536094482 20:44527355-44527355 20:45898716-45898716
24 CTSA NM_000308.3(CTSA):c.1178G>A (p.Arg393Gln) SNV Uncertain significance 338539 rs370763298 20:44525639-44525639 20:45897000-45897000
25 CTSA NM_000308.3(CTSA):c.893C>T (p.Pro298Leu) SNV Uncertain significance 338534 rs778824488 20:44523350-44523350 20:45894711-45894711
26 CTSA NM_000308.3(CTSA):c.753G>A (p.Trp251Ter) SNV Uncertain significance 338531 rs766114836 20:44522633-44522633 20:45893994-45893994
27 CTSA NM_000308.3(CTSA):c.-238del Deletion Uncertain significance 338516 rs554760054 20:44519722-44519722 20:45891083-45891083
28 CTSA NM_000308.3(CTSA):c.-52G>A SNV Uncertain significance 338521 rs373024722 20:44519913-44519913 20:45891274-45891274
29 CTSA NM_000308.3(CTSA):c.-237del Deletion Uncertain significance 338517 rs886056711 20:44519728-44519728 20:45891089-45891089
30 CTSA NM_000308.3(CTSA):c.1420G>A (p.Gly474Ser) SNV Uncertain significance 338541 rs200051553 20:44527012-44527012 20:45898373-45898373
31 CTSA NM_000308.3(CTSA):c.13C>T (p.Pro5Ser) SNV Uncertain significance 338523 rs765245462 20:44519977-44519977 20:45891338-45891338
32 CTSA NM_000308.3(CTSA):c.412-5T>G SNV Uncertain significance 338528 rs375266196 20:44521032-44521032 20:45892393-45892393
33 CTSA NM_000308.3(CTSA):c.249-7dup Duplication Uncertain significance 338525 rs780400265 20:44520542-44520543 20:45891903-45891904
34 CTSA NM_000308.3(CTSA):c.847C>T (p.Arg283Cys) SNV Uncertain significance 338533 rs763381306 20:44523304-44523304 20:45894665-45894665
35 CTSA NM_000308.3(CTSA):c.-271G>A SNV Uncertain significance 338515 rs566739434 20:44519694-44519694 20:45891055-45891055
36 CTSA NM_006227.4(PLTP):c.*171C>T SNV Uncertain significance 338543 rs568876316 20:44527409-44527409 20:45898770-45898770
37 CTSA NM_000308.4(CTSA):c.980T>C (p.Met327Thr) SNV Uncertain significance 895744 20:44523664-44523664 20:45895025-45895025
38 CTSA NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu) SNV Uncertain significance 895745 20:44523715-44523715 20:45895076-45895076
39 CTSA NM_000308.4(CTSA):c.1164+7G>A SNV Uncertain significance 896025 20:44525686-44525686 20:45897047-45897047
40 CTSA NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) SNV Uncertain significance 896026 20:44526731-44526731 20:45898092-45898092
41 CTSA NM_000308.4(CTSA):c.*50C>T SNV Uncertain significance 897619 20:44527139-44527139 20:45898500-45898500
42 CTSA NM_000308.4(CTSA):c.934C>T (p.Arg312Trp) SNV Uncertain significance 837707 20:44523526-44523526 20:45894887-45894887
43 CTSA NM_000308.4(CTSA):c.977G>A (p.Arg326His) SNV Uncertain significance 841568 20:44523661-44523661 20:45895022-45895022
44 CTSA NM_000308.4(CTSA):c.357+3A>G SNV Uncertain significance 845370 20:44520965-44520965 20:45892326-45892326
45 CTSA NM_000308.4(CTSA):c.533G>C (p.Ser178Thr) SNV Uncertain significance 862347 20:44521452-44521452 20:45892813-45892813
46 CTSA NM_000308.3(CTSA):c.1063G>C (p.Ala355Pro) SNV Uncertain significance 529231 rs374059459 20:44523693-44523693 20:45895054-45895054
47 CTSA NM_000308.3(CTSA):c.169C>G (p.Pro57Ala) SNV Uncertain significance 569696 rs1483740187 20:44520322-44520322 20:45891683-45891683
48 CTSA NM_000308.3(CTSA):c.1143-3C>A SNV Uncertain significance 572703 rs764115103 20:44525601-44525601 20:45896962-45896962
49 CTSA NM_000308.3(CTSA):c.822C>A (p.Cys274Ter) SNV Uncertain significance 632374 rs767712946 20:44522702-44522702 20:45894063-45894063
50 CTSA NM_000308.3(CTSA):c.49G>A (p.Ala17Thr) SNV Uncertain significance 657341 rs1471695726 20:44520013-44520013 20:45891374-45891374

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
13.76 PSAP NEU4 NEU3 NEU2 NEU1 IDUA
2
Show member pathways
12.73 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
3
Show member pathways
12.11 PSAP NEU4 NEU3 NEU2 NEU1 GLB1
4
Show member pathways
12.02 NEU4 NEU3 NEU2 NEU1 GLB1 CTSA
5 11.61 PSAP NEU1 M6PR IDUA GLB1 GALNS
6
Show member pathways
10.8 IDUA GLB1 GALNS
7 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 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 PSAP NEU3 NEU1 M6PR CTSA
4 azurophil granule lumen GO:0035578 9.54 GLB1 GALNS CTSA
5 lysosomal lumen GO:0043202 9.5 PSAP NEU4 NEU1 IDUA GLB1 GALNS
6 lysosome GO:0005764 9.32 PSAP NEU4 NEU3 NEU1 M6PR IDUA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.87 NEU4 NEU3 NEU2 NEU1 IDUA GLB1
2 lipid metabolic process GO:0006629 9.85 PSAP NEU4 NEU3 NEU2 NEU1
3 neutrophil degranulation GO:0043312 9.85 PSAP NEU1 GLB1 GALNS CTSA CHIT1
4 lipid catabolic process GO:0016042 9.71 NEU4 NEU3 NEU2 NEU1
5 metabolic process GO:0008152 9.7 NEU4 NEU3 NEU2 NEU1 IDUA GLB1
6 oligosaccharide catabolic process GO:0009313 9.56 NEU4 NEU3 NEU2 NEU1
7 glycosaminoglycan catabolic process GO:0006027 9.51 IDUA GLB1
8 lysosomal transport GO:0007041 9.49 PSAP M6PR
9 glycoprotein catabolic process GO:0006516 9.48 NEU4 NEU2
10 keratan sulfate catabolic process GO:0042340 9.43 GLB1 GALNS
11 ganglioside catabolic process GO:0006689 9.26 NEU4 NEU3 NEU2 NEU1
12 glycosphingolipid metabolic process GO:0006687 9.17 PSAP NEU4 NEU3 NEU2 NEU1 GLB1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.07 SCPEP1 NEU4 NEU3 NEU2 NEU1 IDUA
2 exo-alpha-(2->8)-sialidase activity GO:0052796 9.62 NEU4 NEU3 NEU2 NEU1
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.61 IDUA GLB1 CHIT1
4 exo-alpha-(2->6)-sialidase activity GO:0052795 9.56 NEU4 NEU3 NEU2 NEU1
5 beta-galactosidase activity GO:0004565 9.48 PSAP GLB1
6 serine-type carboxypeptidase activity GO:0004185 9.46 SCPEP1 CTSA
7 exo-alpha-(2->3)-sialidase activity GO:0052794 9.46 NEU4 NEU3 NEU2 NEU1
8 alpha-sialidase activity GO:0016997 9.4 NEU3 NEU1
9 exo-alpha-sialidase activity GO:0004308 9.26 NEU4 NEU3 NEU2 NEU1
10 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 NEU4 NEU3 NEU2 NEU1 IDUA GLB1

Sources for Galactosialidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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