OMIA 000725-9685 : Niemann-Pick disease, type C1 in Felis catus |
In other species:
dog
,
cattle
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
257220 (trait)
,
607623 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2003
Cross-species summary:
Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disease (LSD) characterised by impaired un-esterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.
Molecular basis:
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Somers et al. (2003) showed that this disorder is due to a 2864G>C base substitution in the NPC1 gene, resulting in a C955S amino-acid substitution.
In an excellent example of Precision Medicine (and the first time this term has appeared in the 24,392 papers currently [29 Oct 2016] included in OMIA), Mauler et al. (2017) identified a novel likely causal (missense) variant (c.1322A>C; p.H441P) in the NPC1 gene by 25x whole-genome sequencing an affected cat and comparing its variants to those in the 99 Lives Cat Genome Sequencing database.
Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| NPC1 | Niemann-Pick disease, type C1 | Felis catus | D3 | NC_058379.1 (46107852..46053183) | NPC1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 134 | Niemann-Pick disease, type C1 | NPC1 | missense | Naturally occurring variant | Felis_catus_9.0 | D3 | g.48234217C>G | c.2864G>C | p.(C955S) | 2003 | 12809639 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
| 146 | Domestic Shorthair | Niemann-Pick disease, type C1 | NPC1 | missense | Naturally occurring variant | Felis_catus_9.0 | D3 | g.48250290T>G | c.1322A>C | p.(H441P) | 2017 | 28233346 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2020 | Pallottini, V., Pfrieger, F.W. : | |
| Understanding and treating Niemann-Pick type C disease: Models matter. Int J Mol Sci 21:E8979, 2020. Pubmed reference: 33256121. DOI: 10.3390/ijms21238979. | ||
| 2017 | Mauler, D.A., Gandolfi, B., Reinero, C.R., O'Brien, D.P., Spooner, J.L., Lyons, L.A. : | |
| Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing. J Vet Intern Med 31:539-544, 2017. Pubmed reference: 28233346. DOI: 10.1111/jvim.14599. | ||
| 2016 | Bradbury, A., Bagel, J., Sampson, M., Farhat, N., Ding, W., Swain, G., Prociuk, M., O'Donnell, P., Drobatz, K., Gurda, B., Wassif, C., Remaley, A., Porter, F., Vite, C. : | |
| Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease. J Pharmacol Exp Ther 358:254-61, 2016. Pubmed reference: 27307499. DOI: 10.1124/jpet.116.232975. | ||
| 2015 | Vite, C.H., Bagel, J.H., Swain, G.P., Prociuk, M., Sikora, T.U., Stein, V.M., O'Donnell, P., Ruane, T., Ward, S., Crooks, A., Li, S., Mauldin, E., Stellar, S., De Meulder, M., Kao, M.L., Ory, D.S., Davidson, C., Vanier, M.T., Walkley, S.U. : | |
| Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease. Sci Transl Med 7:276ra26, 2015. Pubmed reference: 25717099. DOI: 10.1126/scitranslmed.3010101. | ||
| 2013 | Bagel, J.H., Sikora, T.U., Prociuk, M., Pesayco, J.P., Mizisin, A.P., Shelton, G.D., Vite, C.H. : | |
| Electrodiagnostic testing and histopathologic changes confirm peripheral nervous system myelin abnormalities in the feline model of niemann-pick disease type C. J Neuropathol Exp Neurol 72:256-62, 2013. Pubmed reference: 23399903. DOI: 10.1097/NEN.0b013e318286587f. | ||
| Roszell, B.R., Tao, J.Q., Yu, K.J., Gao, L., Huang, S., Ning, Y., Feinstein, S.I., Vite, C.H., Bates, S.R. : | ||
| Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. PLoS One 8:e67084, 2013. Pubmed reference: 23843985. DOI: 10.1371/journal.pone.0067084. | ||
| 2012 | Stein, V.M., Crooks, A., Ding, W., Prociuk, M., O'Donnell, P., Bryan, C., Sikora, T., Dingemanse, J., Vanier, M.T., Walkley, S.U., Vite, C.H. : | |
| Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol 71:434-48, 2012. Pubmed reference: 22487861. DOI: 10.1097/NEN.0b013e31825414a6. | ||
| 2010 | Ward, S., O'Donnell, P., Fernandez, S., Vite, C.H. : | |
| 2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res 68:52-6, 2010. Pubmed reference: 20357695. DOI: 10.1203/PDR.0b013e3181df4623. | ||
| 2008 | Vite, CH., Ding, W., Bryan, C., O'Donnell, P., Cullen, K., Aleman, D., Haskins, ME., Van Winkle, T. : | |
| Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease. Pediatr Res 64:544-9, 2008. Pubmed reference: 18614965. DOI: 10.1203/PDR.0b013e318184d2ce. | ||
| 2003 | Somers, KL., Royals, MA., Carstea, ED., Rafi, MA., Wenger, DA., Thrall, MA. : | |
| Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab 79:99-103, 2003. Pubmed reference: 12809639. | ||
| 2002 | Garver, W.S., Somers, K., Krishnan, K., Mitchell, T., Heidenreich, R.A., Thrall, M.A. : | |
| The Niemann-Pick C1 protein in feline fibroblasts. Mol Genet Metab 76:31-6, 2002. Pubmed reference: 12175778. | ||
| 2001 | Somers, K.L., Brown, D.E., Fulton, R., Schultheiss, P.C., Hamar, D., Smith, M.O., Allison, R., Connally, H.E., Just, C., Mitchell, T.W., Wenger, D.A., Thrall, M.A. : | |
| Effects of dietary cholesterol restriction in a feline model of Niemann-Pick type C disease Journal of Inherited Metabolic Disease 24:427-436, 2001. Pubmed reference: 11596647. | ||
| 1999 | Somers, K.L., Wenger, D.A., Royals, M.A., Carstea, E.D., Connally, H.E., Kelly, T., Kimball, R., Thrall, M.A. : | |
| Complementation studies in human and feline Niemann-Pick type C disease. Mol Genet Metab 66:117-21, 1999. Pubmed reference: 10068514. DOI: 10.1006/mgme.1998.2778. | ||
| 1997 | March, P.A., Thrall, M.A., Brown, D.E., Mitchell, T.W., Lowenthal, A.C., Walkley, S.U. : | |
| Gabaergic neuroaxonal dystrophy and other cytopathological alterations in feline niemann-pick disease type c Acta Neuropathologica 94:164-172, 1997. Pubmed reference: 9255392. | ||
| 1996 | Brown, D.E., Thrall, M.A., Walkley, S.U., Wurzelmann, S., Wenger, D.A., Allison, R.W., Just, C.A. : | |
| Metabolic abnormalities in feline Niemann-Pick type C heterozygotes Journal of Inherited Metabolic Disease 19:319-330, 1996. Pubmed reference: 8803775. | ||
| 1994 | Brown, D.E., Thrall, M.A., Walkley, S.U., Wenger, D.A., Mitchell, T.W., Smith, M.O., Royals, K.L., March, P.A., Allison, R.W. : | |
| Feline Niemann-Pick disease type C American Journal of Pathology 144:1412-1415, 1994. Pubmed reference: 8203477. | ||
| Munana, K.R., Luttgen, P.J., Thrall, M.A., Mitchell, T.W., Wenger, D.A. : | ||
| Neurological Manifestations of Niemann-Pick Disease Type-C in Cats Journal of Veterinary Internal Medicine 8:117-121, 1994. Pubmed reference: 8046674. | ||
| 1990 | Lowenthal, A.C., Cummings, J.F., Wenger, D.A., Thrall, M.A., Wood, P.A., Delahunta, A. : | |
| Feline Sphingolipidosis Resembling Niemann-Pick Disease Type-C Acta Neuropathologica 81:189-197, 1990. Pubmed reference: 2127982. | ||
| 1989 | Cuddon, P.A., Higgins, R.J., Duncan, I.D., Miller, S.P.F., Parent, J.M., Moser, A.B. : | |
| Polyneuropathy in Feline Niemann-Pick Disease Brain 112:1429-1443, 1989. Pubmed reference: 2557121. | ||
| 1971 | Percy, D.H., Jortner, B.S. : | |
| Feline lipidosis. Light and electron microscope studies Archives of Pathology 92:136-144, 1971. | ||
| 1970 | Crisp, C.E., Ringler, D.H., Abrams, G.D., Radin, N.S., Brenkert, A. : | |
| Lipid storage disease in a Siamese cat Journal of the American Veterinary Medical Association 156:616-622, 1970. Pubmed reference: 5461697. |
Edit History
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 29 Oct 2016
- Changed by Frank Nicholas on 20 May 2017