Autonomic neuropathy
Gene: ELP1
Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception.
High carrier frequency in the Ashkenazi Jewish population.
Multiple families, mouse model.Created: 3 May 2021, 10:11 a.m. | Last Modified: 3 May 2021, 10:11 a.m.
Panel Version: 0.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Publications
Sources: LiteratureCreated: 11 Nov 2020, 5:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ELP1 were changed from OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Publications for gene: ELP1 were set to
Gene: elp1 has been classified as Green List (High Evidence).
Gene: elp1 has been classified as Red List (Low Evidence).
gene: ELP1 was added gene: ELP1 was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELP1 were set to OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 Review for gene: ELP1 was set to GREEN gene: ELP1 was marked as current diagnostic