Hsd10 Mitochondrial Disease; Hsd10md

Description

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

Clinical Features

Top most frequent phenotypes and symptoms related to Hsd10 Mitochondrial Disease; Hsd10md

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cognitive impairment

And another 52 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hsd10 Mitochondrial Disease; Hsd10md Is also known as hsd17b10 deficiency, mhbd deficiency, 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, camr, mental retardation with chorioathetosis and abnormal behavior, mental retardation, x-linked, syndromic 10, 17-beta-hydroxysteroid dehydrogenase x deficiency, chor.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hsd10 Mitochondrial Disease; Hsd10md Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
HSD17B10 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HSD17B10
Specificity
100 %
Genes
100 %
HSD17B10 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HSD17B10
Specificity
100 %
Genes
100 %
HSD17B10 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HSD17B10
Specificity
100 %
Genes
100 %
HSD17B10 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HSD17B10
Specificity
100 %
Genes
100 %
HSD17B10 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HSD17B10
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc (United States).

SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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