eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| galactosialidosis | ||||
| Disease ID | 738 |
|---|---|
| Disease | galactosialidosis |
| Definition | Galactosialidosis is a lysosomal storage disease.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/galactosialidosis |
| Synonym | cathepsin a deficiency cathepsin a, deficiency of combined deficiency of neuroaminidase and beta galactosidase combined deficiency of sialidase and beta galactosidase combined deficiency of sialidase and beta galactosidase (disorder) deficiency of cathepsin a goldberg syndrome gsl gsl - galactosialidosis lysosomal protective protein deficiency lysosomal protective protein, deficiency of neuraminidase deficiency with beta-galactosidase deficiency neuraminidase/beta-galactosidase expression ngbe ppca deficiency protective protein deficiency protective protein-cathepsin a deficiency protective protein/cathepsin a deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C0268233 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0003486 | aortic aneurysm | 1 C0036439 | scoliosis | 1 C0019294 | inguinal hernias | 1 C0019294 | inguinal hernia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CTSA | 20q13.12 |
| Disease ID | 738 |
|---|---|
| Disease | galactosialidosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0008166 | Decreased beta galactosidase activity HP:0001250 | Seizures HP:0000925 | Abnormality of the vertebral column HP:0007957 | Corneal opacity HP:0002652 | Skeletal dysplasia HP:0000524 | Telangiectasia, conjunctival HP:0000943 | Dysostosis multiplex HP:0000365 | Hearing impairment HP:0010729 | Macular cherry red spot HP:0003468 | Abnormality of the vertebrae HP:0000280 | Coarse facial features HP:0010729 | Cherry red spot of the macula HP:0003510 | Proportionate dwarfism HP:0007759 | Cloudy cornea HP:0001433 | Enlarged liver and spleen HP:0001028 | Strawberry mark HP:0001249 | Mental retardation HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 738 |
|---|---|
| Disease | galactosialidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:25) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893983 | 16538002 | 4758 | NEU1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.001357209 | 2006 | NEU1 | 6 | 31860510 | C | T |
| rs104893983 | 16538002 | 5476 | CTSA | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.566514605 | 2006 | NEU1 | 6 | 31860510 | C | T |
| rs104893983 | 16538002 | 2720 | GLB1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.004071628 | 2006 | NEU1 | 6 | 31860510 | C | T |
| rs137854541 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA;NEURL2 | 20 | 45891714 | A | G |
| rs137854542 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA;NEURL2 | 20 | 45891990 | C | T |
| rs137854543 | 9636645 | 5476 | CTSA | umls:C0268233 | BeFree | The patients in a Japanese family with the severe early-infantile form of galactosialidosis were revealed to be homozygous for the A1184-G transition in the PPCA gene in both alleles, which leads to the Y395C substitution. | 0.566514605 | 1998 | CTSA | 20 | 45897736 | A | G |
| rs137854543 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA | 20 | 45897736 | A | G |
| rs137854544 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA | 20 | 45894040 | T | A |
| rs137854545 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA;NEURL2 | 20 | 45892434 | G | A |
| rs137854549 | 10944848 | 5476 | CTSA | umls:C0268233 | BeFree | Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. | 0.566514605 | 2000 | CTSA | 20 | 45898107 | A | G |
| rs28934603 | 8514852 | 5476 | CTSA | umls:C0268233 | UNIPROT | Protective protein gene mutations in galactosialidosis. | 0.566514605 | 1993 | CTSA;NEURL2 | 20 | 45891761 | T | C |
| rs28934603 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA;NEURL2 | 20 | 45891761 | T | C |
| rs28940583 | 16538002 | 2720 | GLB1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.004071628 | 2006 | NEU1 | 6 | 31860588 | C | T |
| rs28940583 | 16538002 | 4758 | NEU1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.001357209 | 2006 | NEU1 | 6 | 31860588 | C | T |
| rs28940583 | 16538002 | 5476 | CTSA | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.566514605 | 2006 | NEU1 | 6 | 31860588 | C | T |
| rs587779402 | NA | 5476 | CTSA | umls:C0268233 | CLINVAR | NA | 0.566514605 | NA | CTSA;NEURL2 | 20 | 45891951 | C | - |
| rs72555362 | 16538002 | 4758 | NEU1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.001357209 | 2006 | GLB1 | 3 | 33051979 | C | A |
| rs72555362 | 16538002 | 5476 | CTSA | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.566514605 | 2006 | GLB1 | 3 | 33051979 | C | A |
| rs72555362 | 16538002 | 2720 | GLB1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.004071628 | 2006 | GLB1 | 3 | 33051979 | C | A |
| rs72555363 | 16538002 | 4758 | NEU1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.001357209 | 2006 | GLB1 | 3 | 33014263 | C | A |
| rs72555363 | 16538002 | 2720 | GLB1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.004071628 | 2006 | GLB1 | 3 | 33014263 | C | A |
| rs72555363 | 16538002 | 5476 | CTSA | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.566514605 | 2006 | GLB1 | 3 | 33014263 | C | A |
| rs72555391 | 16538002 | 2720 | GLB1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.004071628 | 2006 | GLB1 | 3 | 33016743 | C | T |
| rs72555391 | 16538002 | 5476 | CTSA | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.566514605 | 2006 | GLB1 | 3 | 33016743 | C | T |
| rs72555391 | 16538002 | 4758 | NEU1 | umls:C0268233 | BeFree | Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. | 0.001357209 | 2006 | GLB1 | 3 | 33016743 | C | T |
GWASdb Annotation(Total Genotypes:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 20 | 44523782 | rs4608591 | NM_000308,CTSA | NM_001127695,CTSA | NM_001167594,CTSA | ENST00000372471,ENSG00000064601 | ENST00000372484,ENSG00000064601 | ENST00000354880,ENSG00000064601 | ENST00000191018,ENSG00000064601 | ENST00000419493,ENSG00000064601 | ENST00000372459,ENSG00000064601 | ENST00000485627,ENSG00000064601 | ENST00000493522,ENSG00000064601 | ENST00000480961,ENSG00000064601 | NA | NA | chr20,44520001,44530000,chr1,121110001,121120000,39,Hi-C | NA | LM1,3.6309 | LM1,2.4809 | LM3,7.3504 | LM10,4.1687 | LM93,3.139 | NA | NA | NA | NA | NA | NA | 0.000 | -1.117 | -5.54 | GE2 | T | NA | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0008166 | Decreased beta-galactosidase activity | MP:0002757 | decreased vertical activity | lesser than average time spent jumping or rearing |
| HP:0003468 | Abnormality of the vertebrae | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0000925 | Abnormality of the vertebral column | MP:0009005 | abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0010729 | Cherry red spot of the macula | MP:0005060 | accumulation of giant lysosomes in kidney/renal tubule cells | buildup of contents in lysosomes in cells of the kidney tubules |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000524 | Conjunctival telangiectasia | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0001433 | Hepatosplenomegaly | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001028 | Hemangioma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0008166 | Decreased beta-galactosidase activity | MP:0011941 | increased fluid intake | increase in the total amount of fluid taken in over time when compared to the normal state |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003468 | Abnormality of the vertebrae | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003510 | Severe short stature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000943 | Dysostosis multiplex | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010729 | Cherry red spot of the macula | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000925 | Abnormality of the vertebral column | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 738 |
|---|---|
| Disease | galactosialidosis |
| Case | (Waiting for update.) |