Details of Disease

General Information of Disease (ID: DIS4CREK)

• Disease Name: Classic homocystinuria
• Synonyms: homocystinuria with or without response to pyridoxine; homocystinuria due to CBS deficiency; CBS deficiency; hyperhomocysteinemia, thrombotic, CBS-related; homocystinuria due to cystathionine beta-synthase deficiency; thrombosis, hyperhomocysteinemic; Homocystinuria due to Cystathionine Beta-Synthase Deficiency; homocystinuria, B6-responsive and nonresponsive types; classic homocystinuria; cystathionine beta-synthase deficiency
• Definition: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
• Disease Hierarchy:
  DISMFQKM: Developmental anomaly of metabolic origin
  DISF6ADC: Lens disorder
  DISK3N1S: Homocystinuria
  DIS4CREK: Classic homocystinuria
• Disease Identifiers:
  MONDO ID: MONDO_0009352
  MESH ID: D006712
  UMLS CUI: C0751202
  OMIM ID: 236200
  MedGen ID: 199606
  Orphanet ID: 394
  SNOMED CT ID: 24308003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AHCY	TTE2KUJ	Strong	Biomarker	[1]
PEMT	TT735V2	Strong	Biomarker	[2]
CBS	TTVZJ7G	Definitive	Biomarker	[3]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Altered Expression	[4]
MTRR	DE6NIY9	Strong	Biomarker	[5]
CBS	DEYLWI6	Definitive	Autosomal recessive	[6]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBS	OT46FSKD	Definitive	Autosomal recessive	[6]

References

• [1] Hydrogen sulfide intervention in cystathionine--synthase mutant mouse helps restore ocular homeostasis.Int J Ophthalmol. 2019 May 18;12(5):754-764. doi: 10.18240/ijo.2019.05.09. eCollection 2019.
• [2] Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.Mol Genet Metab. 2017 Apr;120(4):325-336. doi: 10.1016/j.ymgme.2017.02.010. Epub 2017 Mar 2.
• [3] Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine -synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.J Inherit Metab Dis. 2019 May;42(3):424-437. doi: 10.1002/jimd.12085. Epub 2019 Apr 11.
• [4] Cystathionine -synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.Cell Death Dis. 2019 Sep 24;10(10):708. doi: 10.1038/s41419-019-1951-0.
• [5] cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131.
• [6] 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.