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Familial dysautonomia

Synonyms
FD; HSAN 3; HSAN III; HSN 3; Hereditary sensory and autonomic neuropathy 3; Hereditary sensory neuropathy type 3; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Riley Day syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Familial Dysautonomia
Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bat-El Bar-Aluma
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Available tests

78 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (78 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DYS, FD, IKAP, IKBKAP, IKI3, TOT1, ELP1
    Summary: elongator acetyltransferase complex subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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