Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema: genes and variants

Genes linked to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

• PIEZO1: Piezo-type mechanosensitive ion channel component 1

  The protein forms a mechanically activated, nonselective cation channel that converts membrane tension into an electrical and calcium signal. It contributes to touch, blood-cell volume control, and lymphatic development, and PIEZO1 variants are associated with dehydrated stomatocytosis and lymphatic malformations.

  12 disease-causing and 41 uncertain variants in PIEZO1 are linked to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema.

Known disease-causing variants in Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Which prediction tools work for Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• ESM1b (LLR): 92 out of 100
• CATVariant: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• PolyPhen-2: 87 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 87 out of 100
• SIFT: 87 out of 100
• AlphaMissense: 85 out of 100
• AlphaGenome (regulatory): 84 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• REVEL: 82 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• phyloP: 82 out of 100
• AlphaGenome (splicing): 55 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Lymphatic malformation is also caused by PIEZO1 variants; they fall mostly in different places as the Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema variants (6 disease-causing).

Diseases related to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

• Lymphatic malformation, also linked to PIEZO1
• Non-immune hydrops fetalis, also linked to PIEZO1
• Hydrops fetalis, also linked to PIEZO1

Frequently asked questions

Which genes are linked to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema?

In CATVariant, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema is linked to 1 analyzed protein: PIEZO1 (Piezo-type mechanosensitive ion channel component 1).

How many genetic variants are linked to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema?

65 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 41 are of uncertain significance or have conflicting reports.

Which uncertain variants in Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema?

Among tools not trained on clinical labels, ESM1b (LLR) separates this disease's known disease-causing variants from harmless ones best (AUROC 0.92, based on 12 disease-causing and 107 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

Download every variant as CSV · Browse all diseases · Methods · About the Center