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

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.

Frontiers in endocrinology - 1 Jan 2021

Drole Torkar Ana, Avbelj Stefanija Magdalena, Bertok Sara, Trebušak Podkrajšek Katarina, Debeljak Maruša, Stirn Kranjc Branislava, Battelino Tadej, Kotnik Primož

Abstract excerpt

A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1st decade of life. Severe...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases

Share to Intellectual Disability

Share to Obesity

Share to Phenotype

Share to Phosphoric Monoester Hydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 34211432
DOI: 10.3389/fendo.2021.581134
PMCID: PMC8241224

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

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.PMID 34211432Read ↗

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.Semantic proximity Read ↗

Clinical and molecular characterisation of children with monogenic obesity: a case series.Semantic proximity Read ↗

Bardet-Biedl syndrome presenting with early-onset infantile obesity.Semantic proximity Read ↗

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation.Semantic proximity Read ↗

Syndromic obesity: clinical implications of a correct diagnosis.Semantic proximity Read ↗

Clinical and Biological Phenotypes of Patients Carrying a Heterozygous Variant in Genes of Leptin-Melanocortin Signaling Pathway.Semantic proximity Read ↗

Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndromeSemantic proximity Read ↗

Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity.Semantic proximity Read ↗

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.Semantic proximity Read ↗

Optic neuropathies in inherited metabolic disorders.Semantic proximity Read ↗

A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype.Semantic proximity Read ↗

Retinal Dystrophy, Obesity and Hypertension in an Adolescent BoySemantic proximity Read ↗

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