Details of Disease

General Information of Disease (ID: DIS4WDHV)

• Disease Name: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
• Synonyms: Desiccytosis, hereditary; dehydrated hereditary stomatocytosis; xerocytosis, hereditary; DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema; DHS; Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema; pseudohyperkalemia, familial, 1, due to Red cell leak; DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema; Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema; DHS1; DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema; Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema; Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema; pseudohyperkalemia Edinburgh; DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DISGQT6H: Dehydrated hereditary stomatocytosis
  DIS4WDHV: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
• Disease Identifiers:
  MONDO ID: MONDO_0008689
  UMLS CUI: C4551512
  OMIM ID: 194380
  MedGen ID: 1638271

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Calcium Acetate	DM40MBV	Approved	Small molecular drug	[1]
Calcium Chloride	DMYVFR3	Approved	Small molecular drug	[2]
Calcium Gluceptate	DM05ZXO	Approved	Small molecular drug	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIEZO1	OTBG1FU4	Strong	Autosomal dominant	[4]

References

• [1] Calcium Acetate FDA Label
• [2] Calcium Chloride FDA Label
• [3] Calcium Gluceptate FDA Label
• [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.