Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

Journal of clinical research in pediatric endocrinology - 29 Nov 2018

Çelebi Tayfur Aslı, Karaduman Tuğçe, Özcan Türkmen Merve, Şahin Dilara, Çaltık Yılmaz Aysun, Büyükkaragöz Bahar, Buluş Ayşe Derya, Mergen Hatice

Abstract excerpt

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Diabetes Insipidus, Nephrogenic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Mutation, Missense

Share to Pedigree

Share to Receptors, Vasopressin

Source

Open in PubMed Open full text

Identifiers

PMID: 29991464
DOI: 10.4274/jcrpe.0097
PMCID: PMC6280332

Genes

AVPR2
AVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes InsipidusPMID 29991464Read ↗

Nephrogenic diabetes insipidus.Semantic proximity Read ↗

V2R mutations and nephrogenic diabetes insipidus.Semantic proximity Read ↗

A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr108Met Variant of Aquaporin 2Semantic proximity Read ↗

Genetic basis of nephrogenic diabetes insipidus.Semantic proximity Read ↗

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).Semantic proximity Read ↗

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.Semantic proximity Read ↗

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.Semantic proximity Read ↗

Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.Semantic proximity Read ↗

Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Semantic proximity Read ↗

X-linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case SeriesSemantic proximity Read ↗

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.Semantic proximity Read ↗

Congenital nephrogenic diabetes insipidus: the current state of affairs.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.