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

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

Hormones (Athens, Greece) - 1 Mar 2021

Jayant Satyam Singh, Gupta Rahul, Agrawal Kanhaiya, Das Liza, Dutta Pinaki, Bhansali Anil

Abstract excerpt

INTRODUCTION: Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by cardinal features of primary adrenal insufficiency (AI) due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrima. It is frequently associated with neurological manifestations such as autonomic dysfunction, cognitive dysfunction, cranial nerve, or motor involvement. Amyotrophy/motor neuron...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Cortex Hormones
Share to Adrenal Insufficiency

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

Share to Calcium Channel Blockers

Share to Esophageal Achalasia

Share to Muscular Atrophy, Spinal

Share to Nerve Tissue Proteins

Share to Nifedipine

Share to Nuclear Pore Complex Proteins

Source

Identifiers

PMID: 32700293
DOI: 10.1007/s42000-020-00217-7

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

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.PMID 32700293Read ↗

Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological diseaseSemantic proximity Read ↗

Allgrove syndrome with amyotrophy.Semantic proximity Read ↗

Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approachSemantic proximity Read ↗

Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.Semantic proximity Read ↗

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.Semantic proximity Read ↗

Clinical and genetic characterisation of a series of patients with triple A syndrome.Semantic proximity Read ↗

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.Semantic proximity Read ↗

Triple-A syndrome: a wide spectrum of adrenal dysfunction.Semantic proximity Read ↗

[Allgrove syndrome. Report on a family].Semantic proximity Read ↗

Allgrove syndrome.Semantic proximity Read ↗

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.Semantic proximity Read ↗

Triple A syndrome.Semantic proximity Read ↗

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