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

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.

The Journal of clinical endocrinology and metabolism - 17 Jun 2024

Jodeh Wade, Katz Amy J, Hart Marian, Warden Stuart J, Niziolek Paul, Alam Imranul, Ing Steven, Polgreen Lynda E, Imel Erik A, Econs Michael J

Abstract excerpt

CONTEXT: Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder resulting from impaired osteoclastic bone resorption. Clinical manifestations frequently include fractures, osteonecrosis (particularly of the jaw or maxilla), osteomyelitis, blindness, and/or bone marrow failure. ADO usually results from heterozygous missense variants in the Chloride Channel 7 gene (CLCN7) that cause disease by a dominant...

Read the complete abstract on PubMed

Topics

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

Share to Bone Metabolism and Diseases
Share to ADO gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Mutation, Missense

Share to Osteopetrosis

Share to Pedigree

Share to Phenotype

Share to Vacuolar Proton-Translocating ATPases

Source

Open in PubMed Open full text

Identifiers

PMID: 38261998
DOI: 10.1210/clinem/dgae040
PMCID: PMC11180502

Genes

ADO
TCIRG1
CLCN7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.PMID 38261998Read ↗

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.Semantic proximity Read ↗

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.Semantic proximity Read ↗

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.Semantic proximity Read ↗

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.Semantic proximity Read ↗

Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.Semantic proximity Read ↗

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Semantic proximity Read ↗

Autosomal dominant osteopetrosis.Semantic proximity Read ↗

Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.Semantic proximity Read ↗

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.Semantic proximity Read ↗

Genetics, pathogenesis and complications of osteopetrosis.Semantic proximity Read ↗

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.Semantic proximity Read ↗

Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.Semantic proximity Read ↗

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