Nephrogenic Syndrome Of Inappropriate Antidiuresis; Nsiad

Description

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).

Clinical Features

Top most frequent phenotypes and symptoms related to Nephrogenic Syndrome Of Inappropriate Antidiuresis; Nsiad

  • Seizures
  • Pain
  • Hypertension
  • Edema
  • Hypoglycemia
  • Irritability
  • Lethargy
  • Confusion
  • Coma
  • Generalized-onset seizure

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Nephrogenic Syndrome Of Inappropriate Antidiuresis; Nsiad 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
100 %
Nephrogenic Diabetes Insipidus Evaluation.

By Athena Diagnostics Inc (United States).

AQP2, AVPR2
Specificity
50 %
Genes
100 %
AVPR2.

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

AVPR2
Specificity
100 %
Genes
100 %
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
3 %
Genes
100 %
AVPR2. Complete sequencing.

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

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

By CGC Genetics (Portugal).

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

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

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

By PreventionGenetics PreventionGenetics (United States).

AQP2, AVP, AVPR2
Specificity
34 %
Genes
100 %

We have 24 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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