Nephrogenic Diabetes Insipidus

Description

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

Clinical Features

Top most frequent phenotypes and symptoms related to Nephrogenic Diabetes Insipidus

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting
  • Renal insufficiency

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available NEPHROGENIC DIABETES INSIPIDUS have a estimated prevalence of 0.15 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Nephrogenic Diabetes Insipidus Is also known as ndi, diabetes insipidus, nephrogenic, type i.

Researches and researchers

Doctors, researchs, and experts related to Nephrogenic Diabetes Insipidus extracted from public data.

Nephrogenic Diabetes Insipidus Experts map



Current Researchs and researchers

  • BARI — Dr Maria SVELTO

    Investigator of research project

    • Institution/s:
      — Consiglio Nazionale delle Ricerche
    • Research area/topic::

      Potential therapeutic effect of beta3-adrenergic receptor agonists on X-linked Nephrogenic Diabetes Insipidus


Nephrogenic Diabetes Insipidus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

AVPR2
Specificity
100 %
Genes
50 %
Nephrogenic Diabetes Insipidus Evaluation.

By Athena Diagnostics Inc (United States).

AQP2, AVPR2
Specificity
100 %
Genes
100 %
AVPR2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

AVPR2
Specificity
100 %
Genes
50 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
100 %
AVPR2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AVPR2
Specificity
100 %
Genes
50 %
Diabetes insipidus, nephrogenic X-linked (sequence analysis of AVPR2 gene).

By CGC Genetics (Portugal).

AVPR2
Specificity
100 %
Genes
50 %
Nephrogenic diabetes insipidus, x-linked.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

AVPR2
Specificity
100 %
Genes
50 %
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

AQP2, AVP, AVPR2
Specificity
67 %
Genes
100 %

You can get up to 40 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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