Trial reportNeurology2021
Familial Autonomic Ganglionopathy Caused by Rare
2 registry-linked trialsOpen access · greenAbstract readClinical Trial
In one paragraph
Trial report in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 6 papers.
0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
External Influences Upon Ocular Homeostasis
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- Investigating the role of eight SNPs inAnnals of medicine · 2025Article
- Ursolic acid derivative UA312 ameliorates ionizing radiation-induced cardiotoxicity and neurodevelopmental toxicity in zebrafish via targeting chrna3 and grik5.Acta pharmacologica Sinica · 2025Article
- A cross-trait study of lung cancer and its related respiratory diseases based on large-scale exome sequencing population.Translational lung cancer research · 2024Article
- Comprehensive analysis reveals potential therapeutic targets and an integrated risk stratification model for solitary fibrous tumors.Nature communications · 2023Article
- Genetics of Neurogenic Orthostatic Hypotension in Parkinson's Disease, Results from a Cross-Sectional In Silico Study.Brain sciences · 2023Article
- Holiday heart syndrome: do not drink during this holiday! and other updates on recent autonomic research.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 1 institution in 1 country.
Cyndya A ShibaoFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX. cyndya.shibao@vumc.org.ORCID 0000-0002-4518-6801
Karen JoosFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0002-6210-4126
John A PhillipsFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
Joy CoganFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0001-8106-1216
John H NewmanFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
Rizwan HamidFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
Jens MeilerFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0001-8945-193X
John CapraFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0001-9743-1795
Jonathan SheehanFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0002-9641-7577
Francesco VetriniFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0003-0001-0199
Yaping YangFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
Bonnie BlackFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
André DiedrichFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.ORCID 0000-0001-5643-0294
David RoberstonFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
Italo BiaggioniFrom the Department of Medicine (C.S., J.H.N., B.B., A.D., D.R., I.B.), Department of Ophthalmology and Visual Sciences, Biomedical Engineering (K.J.), Department of Pediatrics (J.A.P., J.C., R.H.), and Department of Biochemistry (J.M., J.C.), Vanderbilt University Medical Center, Nashville, TN; Department of Internal Medicine (J.S.), Washington University in St. Louis, MO; Department of Medical and Molecular Genetics (F.V.), Indiana University School of Medicine, Indianapolis, IN; and Baylor Genetics and Baylor College of Medicine (Y.Y.), Baylor College of Medicine, Houston, TX.
Baylor College of Medicine · US
Funding
Structural genomics of norepinephrine transportersP01HL056693 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DIEDRICH, ANDRE · 1997 to 2016
$30.8MSympathetic Mechanisms in the Cardiovascular and Metabolic Alterations of ObesityR01HL149386 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BIAGGIONI, ITALO · 2019 to 2023
$3.0MAutonomic Determinants of Postural Tachycardia SyndromeR01HL142583 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DIEDRICH, ANDRE · 2019 to 2022
$1.7MHigh-Performance Computer Cluster for Biomedical ResearchS10OD023680 · OD · VANDERBILT UNIVERSITY · PI MEILER, JENS · 2017 to 2017
$587kHybrid Methods for Prediction and Design of Novel Human Influenza AntibodiesR56AI110750 · NIAID · VANDERBILT UNIVERSITY · PI CROWE, JAMES E, MEILER, JENS · 2014 to 2014
$433kAutonomic Determinants of Postural Tachycardia SyndromeR56HL142583 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DIEDRICH, ANDRE · 2018 to 2018
$391kNHLBI NIH HHS P01 HL056693NHLBI NIH HHS R01 HL142583NHLBI NIH HHS R01 HL149386NHLBI NIH HHS R56 HL142583NIAID NIH HHS R56 AI110750NIH HHS S10 OD023680
Abstract
objectiveTo determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure.
methodsTwo adult siblings from one family (I-4 and I-5) and another participant from a second family (II-3) presented with severe neurogenic orthostatic hypotension (nOH), small nonreactive pupils, and constipation. All 3 affected members had low norepinephrine levels and diffuse panautonomic failure.
resultsWhole exome sequencing of DNA from I-4 and I-5 showed compound heterozygosity for c.907_908delCT (p.L303Dfs*115)/c.688 G>A (p.D230N) pathologic variants in the acetylcholine receptor, neuronal nicotinic, α3 subunit gene (
conclusionsWe report a novel genetic disease that affected 3 individuals from 2 unrelated families who presented with severe nOH, miosis, and constipation. These patients had rare pathologic variants in the
Indexed as
MutationAdolescentAdultAutonomic Nervous System DiseasesConstipationExome SequencingFemaleGenes, RecessiveHumansHypotension, OrthostaticMaleMiosisPedigreeReceptors, NicotinicReceptors, Nicotinic
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
NCT00338065ClinicalTrials.gov
NCT02450851ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.