HSD10 Disease

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1		Camila Xu	+ 621 word(s)	621	2020-12-15 07:26:07

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Xu, C. HSD10 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4070 (accessed on 29 September 2026).

Xu C. HSD10 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4070. Accessed September 29, 2026.

Xu, Camila. "HSD10 Disease" Encyclopedia, https://encyclopedia.pub/entry/4070 (accessed September 29, 2026).

Xu, C. (2020, December 23). HSD10 Disease. In Encyclopedia. https://encyclopedia.pub/entry/4070

Xu, Camila. "HSD10 Disease." Encyclopedia. Web. 23 December, 2020.

HSD10 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hsd10-disease

HSD10 disease is a disorder that affects the nervous system, vision, and heart. It is typically more severe in males than in females.

genetic conditions

References

Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR,Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNAtranscript processing. Mitochondrion. 2015 Mar;21:1-10. doi:10.1016/j.mito.2014.12.005.
Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, FeichtingerRG, Oerum S, Yue WW, Zschocke J. Mutation or knock-down of 17β-hydroxysteroiddehydrogenase type 10 cause loss of MRPP1 and impaired processing ofmitochondrial heavy strand transcripts. Hum Mol Genet. 2014 Jul 1;23(13):3618-28.doi: 10.1093/hmg/ddu072.
Holzmann J, Frank P, Löffler E, Bennett KL, Gerner C, Rossmanith W. RNase Pwithout RNA: identification and functional reconstitution of the humanmitochondrial tRNA processing enzyme. Cell. 2008 Oct 31;135(3):462-74. doi:10.1016/j.cell.2008.09.013.
Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R,Lehnert W, Sass JO, Sperl W, Wanders RJ. 2-Methyl-3-hydroxybutyryl-CoAdehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J HumGenet. 2003 May;72(5):1300-7.
Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, Rossmanith W. Asubcomplex of human mitochondrial RNase P is a bifunctionalmethyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.Nucleic Acids Res. 2012 Dec;40(22):11583-93. doi: 10.1093/nar/gks910.
Vilardo E, Rossmanith W. Molecular insights into HSD10 disease: impact ofSDR5C1 mutations on the human mitochondrial RNase P complex. Nucleic Acids Res.2015 Jul 27;43(13):6649. doi: 10.1093/nar/gkv658.
Yang SY, He XY, Miller D. HSD17B10: a gene involved in cognitive functionthrough metabolism of isoleucine and neuroactive steroids. Mol Genet Metab. 2007 Sep-Oct;92(1-2):36-42.
Yang SY, He XY, Schulz H. Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase. Trends Endocrinol Metab. 2005 May-Jun;16(4):167-75. Review.
Zschocke J. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J Inherit Metab Dis. 2012 Jan;35(1):81-9. doi: 10.1007/s10545-011-9415-4.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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