Abstract is: Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease.
| congenital disorder | Q727096 |
| rare disease | Q929833 |
| class of disease | Q112193867 |
| lysosomal storage disease | Q675010 |
| autosomal recessive disease | Q10267817 |
| P699 | Disease Ontology ID | DOID:0112317 |
| P557 | DiseasesDB | 30058 |
| P2888 | exact match | http://identifiers.org/doid/DOID:0112317 |
| http://purl.obolibrary.org/obo/DOID_0112317 | ||
| P4317 | GARD rare disease ID | 9161 |
| P7464 | Genetics Home Reference Conditions ID | schindler-disease |
| P494 | ICD-10 ID | E77.1 |
| P4229 | ICD-10-CM | E77.1 |
| P1692 | ICD-9-CM | 277.89 |
| P665 | KEGG ID | H00146 |
| P6366 | Microsoft Academic ID | 2778645211 |
| P5270 | Mondo ID | MONDO_0017779 |
| P492 | OMIM ID | 609241 |
| 609241 | ||
| 609242 | ||
| 609242 | ||
| P1550 | Orphanet ID | 3137 |
| P2892 | UMLS CUI | C0342850 |
| C1836544 | ||
| P11430 | UniProt disease ID | DI-02283 |
| P2293 | genetic association | NAGA | Q18029836 |
| P1995 | health specialty | endocrinology | Q162606 |
| P138 | named after | Detlev Schindler | Q98197840 |
| Q111033955 | Kanzaki disease |
| Q56014277 | alpha-N-acetylgalactosaminidase deficiency type 3 |
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| Q28204974 | A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation |
| Q46835661 | Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I. |
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| Q72646087 | Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease |
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| Q69631735 | Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency |
| Q70790843 | Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency |
| Q34547775 | Neurologic manifestations of Kanzaki disease |
| Q37827347 | Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency |
| Q24617946 | Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy |
| Q34544070 | Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). |
| Q45201822 | Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities |
| Q74722542 | [Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]] |
| Q28247120 | alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis |
| Q67248787 | alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder |
| Α-N-Acetylgalactosaminidase-Mangel | wikipedia | |
| Schindler disease | wikipedia | |
| Enfermedad de Schindler | wikipedia | |
| Persian (fa / Q9168) | بیماری شیندلر | wikipedia |
| Schindlerin tauti | wikipedia | |
| Malattia di Schindler | wikipedia |
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