Diabetes Insipidus, Nephrogenic, X-linked

Description

Nephrogenic diabetes insipidus (NDI) is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopression (AVP ). Approximately 90% of patients are males with the X-linked recessive form (type I), which is caused by a defect in the vasopressin V2 receptor in renal collecting duct cells. The remaining 10% of patients have autosomal NDI (OMIM ) (type II), which is caused by mutations in the gene encoding the aquaporin-2 water channel (AQP2 ) on chromosome 12q13 (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (OMIM ) is caused by mutation in the gene encoding arginine vasopression, located on 20p13.

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes Insipidus, Nephrogenic, X-linked

  • Intellectual disability
  • Seizures
  • Short stature
  • Pica
  • Failure to thrive
  • Milia
  • Fever
  • Vomiting
  • Constipation
  • Feeding difficulties in infancy
And another 13 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Diabetes Insipidus, Nephrogenic, X-linked Recommended genes panels

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

By Athena Diagnostics Inc in United States.

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

By Athena Diagnostics Inc in United States.

AVPR2, AQP2
Specificity
50 %
Genes
100 %
AVPR2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

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

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

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
AVPR2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

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

By CGC Genetics in Portugal.

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

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

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

By PreventionGenetics PreventionGenetics in United States.

AVPR2, AQP2, AVP
Specificity
34 %
Genes
100 %
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AVPR2
Specificity
100 %
Genes
100 %
Diabetes insipidus renalis.

By Institute of Human Genetics Cologne University in Germany.

AVPR2, AQP2
Specificity
50 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrogenic Diabetes Insipidus, X-Linked.

By Bioscientia GmbH Center for Human Genetics in Germany.

AVPR2
Specificity
100 %
Genes
100 %
AVPR2.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AVPR2
Specificity
100 %
Genes
100 %
Nephrogenic syndrome of inapproriate antidiuresis.

By Centogene AG - the Rare Disease Company in Germany.

AVPR2
Specificity
100 %
Genes
100 %
Diabetes insipidus nephrogenic X-Linked.

By Centogene AG - the Rare Disease Company in Germany.

AVPR2
Specificity
100 %
Genes
100 %
Diabetes insipidus, nephrogenic Panel.

By CeGaT GmbH in Germany.

AVPR2, AQP2, AVP
Specificity
34 %
Genes
100 %
Diabetes insipidus, nephrogenic (AVPR2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

AVPR2
Specificity
100 %
Genes
100 %
Diabetes insipidus, nephrogenic, X-linked: AVPR2 gene sequence analysis (exons 2-3).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AVPR2
Specificity
100 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
AVPR2.

By Fulgent Genetics Fulgent Genetics in United States.

AVPR2
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Diabetes Insipidus Panel.

By Blueprint Genetics in Finland.

AVPR2, AQP2, AVP
Specificity
34 %
Genes
100 %
X-linked nephrogenic diabetes insipidus.

By Bioarray in Spain.

AVPR2
Specificity
100 %
Genes
100 %
Nephrogenic Diabetes Insipidus NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

AVPR2, AQP2
Specificity
50 %
Genes
100 %
AVPR2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

AVPR2
Specificity
100 %
Genes
100 %
DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

AVPR2
Specificity
100 %
Genes
100 %
X-Linked Nephrogenic Diabetes Insipidus , Sequencing AVPR2 Gene.

By Reference Laboratory Genetics in Spain.

AVPR2
Specificity
100 %
Genes
100 %
X-Linked Nephrogenic Diabetes Insipidus , Sequencing Exons (2-3) AVPR2 Gene.

By Reference Laboratory Genetics in Spain.

AVPR2
Specificity
100 %
Genes
100 %
Nephrogenic Diabetes Insipidus , Panel Massive Sequencing (NGS) AQP2, AVPR2 Genes.

By Reference Laboratory Genetics in Spain.

AVPR2, AQP2
Specificity
50 %
Genes
100 %
Nephrogenic diabetes insipidus, X-linked.

By Labor Dr. Wisplinghoff in Germany.

AVPR2
Specificity
100 %
Genes
100 %
Nephrogenic Diabetes Insipidus: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AVPR2, AQP2
Specificity
50 %
Genes
100 %

Alternate names

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


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