Details of Disease

General Information of Disease (ID: DISWKSHU)

• Disease Name: Acatalasia
• Synonyms: acatalasia; deficiency of catalase; catalase deficiency; acatalasemia
• Definition: A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
• Disease Hierarchy:
  DISF1HBQ: Disorder of defective peroxisome oxidative status
  DISWKSHU: Acatalasia
• Disease Identifiers:
  MONDO ID: MONDO_0013571
  MESH ID: D020642
  UMLS CUI: C0268419
  OMIM ID: 614097
  MedGen ID: 75679
  Orphanet ID: 926
  SNOMED CT ID: 267454002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CAT	TTPS279	Strong	Altered Expression	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CAT	DE1XPGH	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAT	OTHEBX9R	Strong	Autosomal recessive	[2]
TALDO1	OTDKV2S2	Strong	Biomarker	[3]

References

• [1] Redox-dependent catalase mimetic cerium oxide-based nanozyme protect human hepatic cells from 3-AT induced acatalasemia.Colloids Surf B Biointerfaces. 2019 Mar 1;175:625-635. doi: 10.1016/j.colsurfb.2018.12.042. Epub 2018 Dec 17.
• [2] Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. Blood Cells Mol Dis. 2000 Apr;26(2):151-4. doi: 10.1006/bcmd.2000.0288.
• [3] Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.Free Radic Biol Med. 2001 Jun 15;30(12):1365-73. doi: 10.1016/s0891-5849(01)00532-9.