Diabetes insipidus, nephrogenic, X-linked: genes and variants

Genes linked to Diabetes insipidus, nephrogenic, X-linked

• AVPR2: Vasopressin V2 receptor

  25 disease-causing and 36 uncertain variants in AVPR2 are linked to Diabetes insipidus, nephrogenic, X-linked.

Where Diabetes insipidus, nephrogenic, X-linked variants cluster

• AVPR2 Extracellular (positions 102–108): 3 of 25 disease-causing changes, 6.4× more than its size predicts.
• AVPR2 Transmembrane (positions 109–135): 5 of 25 disease-causing changes, 2.8× more than its size predicts.
• AVPR2 Transmembrane (positions 159–177): 4 of 25 disease-causing changes, 3.1× more than its size predicts.
• AVPR2 Transmembrane (positions 272–293): 4 of 25 disease-causing changes, 2.7× more than its size predicts.
• AVPR2 Transmembrane (positions 200–226): 3 of 25 disease-causing changes, 1.6× more than its size predicts.

Known disease-causing variants in Diabetes insipidus, nephrogenic, X-linked

Which prediction tools work for Diabetes insipidus, nephrogenic, X-linked

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

• PolyPhen-2: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 85 out of 100
• CATVariant: 73 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Nephrogenic diabetes insipidus is also caused by AVPR2 variants; they fall partly in the same places as the Diabetes insipidus, nephrogenic, X-linked variants (7 disease-causing).

Diseases related to Diabetes insipidus, nephrogenic, X-linked

• Nephrogenic diabetes insipidus, also linked to AVPR2
• Renal tubulopathies, also linked to AVPR2
• Autosomal dominant polycystic kidney disease, also linked to AVPR2
• Nephrogenic syndrome of inappropriate antidiuresis, also linked to AVPR2

Frequently asked questions

Which genes are linked to Diabetes insipidus, nephrogenic, X-linked?

In CATVariant, Diabetes insipidus, nephrogenic, X-linked is linked to 1 analyzed protein: AVPR2 (Vasopressin V2 receptor).

How many genetic variants are linked to Diabetes insipidus, nephrogenic, X-linked?

76 variants: 25 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 36 are of uncertain significance or have conflicting reports.

Which uncertain variants in Diabetes insipidus, nephrogenic, X-linked 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 Diabetes insipidus, nephrogenic, X-linked?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.85, based on 20 disease-causing and 31 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.

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