MCID: GLC012
MIFTS: 46

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 cystic fibrosis, 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, Eye, Liver, Brain, T cells

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
Genetic Association Between IL-21 Polymorphisms and Cryptorchidism in a Chinese Han Population. (26990619)
2016
2
NUCB2/nesfatin-1 Is Associated with Elevated Levels of Anxiety in Anorexia Nervosa. (26162003)
2015
3
The Relationship of HLA-DQ Alleles with Tuberculosis Risk: A Meta-analysis. (26007157)
2015
4
Concurrent Outbreaks of St. Louis Encephalitis Virus and West Nile Virus Disease - Arizona, 2015. (26656306)
2015
5
TGF-I^1 precursor and CD8 are potential prognostic and predictive markers in operated breast cancer. (24496679)
2014
6
Barrett's Esophagus Suspected at Endoscopy but No Specialized Intestinal Metaplasia on Biopsy, What's Next? (24343550)
2013
7
Co-occurring Depression and Pain in Multiple Sclerosis. (24314687)
2013
8
Optical-thermal mathematical model for endovenous laser ablation of varicose veins. (24105397)
2013
9
Molecular alterations of bone quality in sequesters of bisphosphonates-related osteonecrosis of the jaws. (24081510)
2013
10
Unusual problems in the management of hyperthyroid Graves' disease. (23435045)
2013
11
A case of parasite invasion of the intestinal tract: a missed diagnosis in irritable bowel syndrome. (24340264)
2013
12
Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer's disease. (23138650)
2013
13
Positive result in the early passive phase of the tilt-table test: a predictor of neurocardiogenic syncope in young men. (22403501)
2012
14
Anasarca as the initial presentation of juvenile polymyositis: an uncommon occurrence. (21805348)
2012
15
Synthesis and biological evaluation of CTP synthetase inhibitors as potential agents for the treatment of African trypanosomiasis. (22865834)
2012
16
Significant variation in the assessment of cervical involvement in endometrial carcinoma: an interobserver variation study. (21263250)
2011
17
Candidate genes contributing to the aggressive phenotype of mantle cell lymphoma. (21145576)
2011
18
TI-relaxation time changes over five years in relapsing-remitting multiple sclerosis. (20086026)
2010
19
A postgenomic integrated view of prostaglandins in reproduction: implications for other body systems. (18802217)
2008
20
Vertebrobasilar dolichoectasia: a rare cause of obstructive hydrocephalus: case report. (18344271)
2008
21
Primary oesophageal Ki (CD30)-positive ALK+ anaplastic large cell lymphoma of T-cell phenotype. (18946602)
2008
22
Up-regulation of activating transcription factor-5 suppresses SAP expression to activate T cells in hemophagocytic syndrome associated with Epstein-Barr virus infection and immune disorders. (18832568)
2008
23
Group A streptococcal meningitis in a pediatric patient. (19436512)
2008
24
Pyogenic granuloma of the oral cavity: comparative study of its clinicopathological and immunohistochemical features. (15982213)
2005
25
Hypertonic sodium chloride induction of cyclooxygenase-2 occurs independently of NF-kappaB and is inhibited by the glucocorticoid receptor in A549 cells. (16198345)
2005
26
Elevated ankyrin G in a plexiform neurofibroma and neuromas associated with pain. (15519868)
2004
27
The effects of atorvastatin treatment on the fibrinolytic system in dyslipidemic patients. (15655273)
2004
28
The role of colonic microbiota in lactose intolerance. (14992439)
2004
29
Androgen receptor signaling: mechanism of interleukin-6 inhibition. (15059919)
2004
30
MDM2 is a negative regulator of p21WAF1/CIP1, independent of p53. (14761977)
2004
31
19F NMR spectroscopic study on the binding of triflupromazine to bovine and human serum albumins. (15496337)
2004
32
Modulation of hematology changes by polymorphism of glutathione S-transferase M1 and T1. (14637136)
2003
33
Evolution of the RNA polymerase II C-terminal domain. (11972039)
2002
34
Characterization of the human and mouse genes for the alpha subunit of type II prolyl 4-hydroxylase. Identification of a previously unknown alternatively spliced exon and its expression in various tissues. (11606192)
2001
35
Cytokeratin profile relates to histological subtypes and intrahepatic location of intrahepatic cholangiocarcinoma and primary sites of metastatic adenocarcinoma of liver. (10931219)
2000
36
Glucocorticoids, 11beta-hydroxysteroid dehydrogenase, and fetal programming. (10760076)
2000
37
Massive solitary metastasis of hepatocellular carcinoma in the ovary two years after liver transplantation. (10767521)
2000
38
Hematopoietic compartment of Fanconi anemia group C null mice contains fewer lineage-negative CD34+ primitive hematopoietic cells and shows reduced reconstruction ability. (10560914)
1999
39
The presence of antibodies against HIV peptides in the sera of alloimmune mice and thalassemic patients is due to a polyclonal activation mechanism. (9245553)
1997
40
Lamellar bodies in synoviocytes, mesothelium and specific epithelia as possible site of auto-antigen in rheumatoid disease. (8205397)
1994
41
Two cases of acute lymphocytic leukaemia associated with bone marrow necrosis--a brief review of recent literature. (8119381)
1994
42
Miliary tuberculosis in pregnancy. (8120929)
1993
43
A new medication to control patulous eustachian tube disorders. (1415494)
1992
44
Luminol chemiluminescence using xanthine and hypoxanthine as xanthine oxidase substrates. (2158934)
1990
45
Human microsomal xenobiotic epoxide hydrolase. Complementary DNA sequence, complementary DNA-directed expression in COS-1 cells, and chromosomal localization. (2891713)
1988
46
A human Y-chromosomal DNA sequence expressed in testicular tissue. (3479749)
1987
47
Necrotizing sialometaplasia of the nasal cavity. (3083385)
1986
48
Male pseudohermaphroditism presumably due to 5 alpha reductase deficiency. (6643385)
1983
49
Sleeping sickness in children. (1235826)
1975
50
FETAL resorption in lathyrism. (13369963)
1956

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