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

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.

Frontiers in endocrinology - 1 Jan 2021

Alwatban Saud, Alfaraidi Haifa, Alosaimi Abdulaziz, Alluhaydan Iram, Alfadhel Majid, Polak Michel, Almutair Angham

Abstract excerpt

Introduction: DNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism. Case Description: We report a case of homozygous DNAJC3 mutation in two siblings of a consanguineous family. A 3-year-old boy presented with short stature and...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Diabetes Mellitus

Share to HSP40 Heat-Shock Proteins

Share to Hypothyroidism

Share to Pancreas

Share to Thyroid Nodule

Source

Open in PubMed Open full text

Identifiers

PMID: 34630333
DOI: 10.3389/fendo.2021.742278
PMCID: PMC8497828

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.PMID 34630333Read ↗

DNAJC3-Related Syndromic Monogenic Diabetes Without Clinically Evident Neurological Manifestations in an Adult: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.Semantic proximity Read ↗

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.Semantic proximity Read ↗

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.Semantic proximity Read ↗

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetesSemantic proximity Read ↗

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.Semantic proximity Read ↗

Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.Semantic proximity Read ↗

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins.Semantic proximity Read ↗

A Comprehensive Structure-Function Study of Neurogenin3 Disease-Causing Alleles during Human Pancreas and Intestinal Organoid DevelopmentSemantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.Semantic proximity Read ↗

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.Semantic proximity Read ↗

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