Details of Disease

General Information of Disease (ID: DISCJYFW)

• Disease Name: HSD10 mitochondrial disease
• Synonyms: 3H2MBD deficiency; 2M3HBA; 17 beta-hydroxysteroid dehydrogenase type 10 deficiency; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; hydroxyacyl-CoA dehydrogenase II deficiency; X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome; syndromic X-linked intellectual disability type 10; HSD10 deficiency, atypical type; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome; 17-beta-hydroxysteroid dehydrogenase 10 deficiency; 17-beta-hydroxysteroid dehydrogenase X deficiency; 2-methyl-3-hydroxybutyric aciduria; HSD17B10 deficiency; HSD10 mitochondrial disease; MHBD deficiency; chorioathetosis with mental retardation and abnormal behavior; mental retardation, X-linked syndromic 10; chorioathetosis with mental retardation and abnormal behaviour; HSD10 mitochondrial disease, X-linked dominant; MRXS10; HSD10 deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; mental retardation with chorioathetosis and abnormal behavior; mental retardation, X-linked, syndromic type 10; HSD10MD; mental retardation with chorioathetosis and abnormal behaviour; mental retardation, X-linked, syndromic 10; 3-hydroxyacyl-CoA dehydrogenase 2 deficiency
• Definition: A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
• Disease Hierarchy:
  DISP5E0H: Inborn mitochondrial metabolism disorder
  DISD715V: Hereditary neurological disease
  DISCJYFW: HSD10 mitochondrial disease
• Disease Identifiers:
  MONDO ID: MONDO_0010327
  MESH ID: C564560
  UMLS CUI: C3266731
  OMIM ID: 300438
  MedGen ID: 781653
  Orphanet ID: 391417
  SNOMED CT ID: 7.91E+11

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Limited	Biomarker	[1]
HSD17B10	DEGSPC9	Definitive	X-linked	[2]
HSD17B10	DEGSPC9	Definitive	Biomarker	[3]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[1]
AUH	OT8VKBXX	Limited	Biomarker	[1]
ROGDI	OTZ7LSKJ	Limited	Genetic Variation	[1]
FSIP1	OTYLL6GM	Strong	Genetic Variation	[4]
MX1	OT6X8G5T	Strong	Altered Expression	[5]
HSD17B10	OT7RJON4	Definitive	X-linked	[2]

References

• [1] Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.Mol Genet Genomic Med. 2019 Dec;7(12):e1000. doi: 10.1002/mgg3.1000. Epub 2019 Oct 26.
• [4] A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.PLoS One. 2011;6(11):e27348. doi: 10.1371/journal.pone.0027348. Epub 2011 Nov 22.
• [5] A type I interferon signature characterizes chronic antibody-mediated rejection in kidney transplantation.J Pathol. 2015 Sep;237(1):72-84. doi: 10.1002/path.4553. Epub 2015 Jun 4.