Hereditary Sensory And Autonomic Neuropathy
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Last Posted: Mar 09, 2023
- Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
Castori Marco, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 0 (7) 732-739 - Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
Xie Yongzhi, et al. European journal of neurology 2021 0 (11) 3774-3783 - Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.
Gutiérrez Joel V, et al. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2018 0 (2) 390-396 - Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
Bodzioch M, et al. Human mutation 2001 0 (1) 72 - Frequency and burden of gastrointestinal symptoms in familial dysautonomia.
Ramprasad Chethan et al. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2020 Oct - High prevalence of carpal tunnel syndrome in individuals with rare nerve growth factor-beta mutation.
Ridderström Mikael et al. Brain communications 2020 2(2) fcaa085 - Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet Juliette et al. BMJ open 2018 8(10) e021632 - Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation
JO Johnson et al, BioRXIV, September 19, 2019 - Genetic variants in DNMT1 and the risk of cardiac autonomic neuropathy in women with type 1 diabetes.
Santos-Bezerra Daniele Pereira, et al. Journal of diabetes investigation 2019 7 (4) 985-989 - Hereditary sensory and autonomic neuropathy
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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