Details of Disease

General Information of Disease (ID: DISSXDQ8)

• Disease Name: EAST syndrome
• Synonyms: seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance; seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance; epilepsy, ataxia, sensorineural deafness, and tubulopathy; SESAMES; EAST syndrome; epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance; sesame syndrome
• Definition: SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DIS6JNI3: Hereditary ataxia
  DISSXDQ8: EAST syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013005
  MESH ID: C557674
  UMLS CUI: C2748572
  OMIM ID: 612780
  MedGen ID: 411243
  Orphanet ID: 199343
  SNOMED CT ID: 721207002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNC4	TTODZF1	Strong	Biomarker	[1]
KCNJ10	TTG140O	Strong	Genetic Variation	[2]
PI4KB	TTNPL3B	Strong	Genetic Variation	[3]
KCNJ10	TTG140O	Definitive	Autosomal recessive	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ16	OT174UPV	Strong	Biomarker	[1]
KCNJ10	OTPL3Z8A	Definitive	Autosomal recessive	[4]

References

• [1] Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.Proc Natl Acad Sci U S A. 2011 Jun 21;108(25):10361-6. doi: 10.1073/pnas.1101400108. Epub 2011 Jun 1.
• [2] EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.Clin Genet. 2019 Jan;95(1):63-78. doi: 10.1111/cge.13374. Epub 2018 Jul 8.
• [3] Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance. Hum Genomics. 2019 Oct 22;13(1):53. doi: 10.1186/s40246-019-0236-0.
• [4] 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.