Homocystinuria Due To Cystathionine Beta-synthase Deficiency

Description

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

Clinical Features

Top most frequent phenotypes and symptoms related to Homocystinuria Due To Cystathionine Beta-synthase Deficiency

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia
  • Abnormality of the skeletal system
  • Edema
  • Behavioral abnormality
  • Dilatation
  • Depressivity

And another 37 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

Homocystinuria Due To Cystathionine Beta-synthase Deficiency Is also known as cystathionine beta-synthase deficiency, cbs deficiency, homocystinuria with or without response to pyridoxine.

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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Homocystinuria Due To Cystathionine Beta-synthase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

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Specificity
1 %
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100 %
CBS Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CBS
Specificity
100 %
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100 %
CBS Prenatal Sequence Analysis.

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CBS
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100 %
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100 %
CBS Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CBS
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

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RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

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Specificity
1 %
Genes
100 %
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By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

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Specificity
1 %
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NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
6 %
Genes
100 %
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SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

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Sources and references

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