National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial dysautonomia


Other Names:
Dysautonomia, familial; FD; Hereditary sensory neuropathy type 3; Dysautonomia, familial; FD; Hereditary sensory neuropathy type 3; Hereditary sensory and autonomic neuropathy 3; HSAN 3; HSN 3; Riley Day syndrome See More
Categories:
Familial dysautonomia, also called hereditary sensory and autonomic neuropathy type III, is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is caused by mutations in the IKBKAP gene. It is inherited in an autosomal recessive pattern.
Last updated: 11/5/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pupil morphology
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ] 		0000615
Alacrima
Absence of tears in the eyes
Absent tear secretion
[ more ] 		0000522
EMG abnormality 0003457
Feeding difficulties in infancy 0008872
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Impaired pain sensation
Decreased pain sensation
0007328
Malignant hyperthermia 0002047
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
30%-79% of people have these symptoms
Ataxia 0001251
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] 		0000708
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hypertension 0000822
Muscular hypotonia
Low or weak muscle tone
0001252
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Scoliosis 0002650
5%-29% of people have these symptoms
Abnormal pleura morphology 0002103
Abnormality of the peritoneum 0002585
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Corneal opacity 0007957
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Glomerulopathy 0100820
Heterochromia iridis
Different colored eyes
0001100
Hyponatremia
Low blood sodium levels
0002902
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Optic atrophy 0000648
Osteolysis
Breakdown of bone
0002797
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Seizure 0001250
Tachycardia
Fast heart rate
Heart racing
Racing heart
[ more ] 		0001649
Percent of people who have these symptoms is not available through HPO
Abnormal renal physiology
Abnormal kidney function
Kidney function issue
[ more ] 		0012211
Autosomal recessive inheritance 0000007
Congenital onset
Symptoms present at birth
0003577
Constipation 0002019
Corneal ulceration 0012804
Decreased corneal reflex 0008000
Decreased number of large peripheral myelinated nerve fibers 0003387
Decreased sensitivity to hypoxemia 0005947
Decreased taste sensation
Decreased taste
0000224
Diarrhea
Watery stool
0002014
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ] 		0003259
Emotional lability
Emotional instability
0000712
Episodic hyperhidrosis
Sporadic excessive sweating
0001069
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Glomerulosclerosis 0000096
Incoordination
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ] 		0002311
Increased blood urea nitrogen 0003138
Neuropathic arthropathy 0002821
Progressive
Worsens with time
0003676
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] 		0001954
Recurrent infections due to aspiration 0004891
Vomiting
Throwing up
0002013
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN). Normal or increased sweating easily distinguishes familial dysautonomia (FD) from HSAN4, also hypertensive crises are unique to FD and not present in other HSANs. Deep tendon reflexes are absent in FD.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial dysautonomia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • The RDCRN - Autonomic Disorders Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with many types of autonomic disorders through research. The Autonomic Rare Diseases Clinical Research Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

    For more information on the registry see: RDCRN Autonomic Disorders Consortium Contact Registry
  • The Inherited Neuropathies Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with Charcot Marie Tooth disease through research. The Inherited Neuropathies Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Familial dysautonomia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial dysautonomia. Click on the link to view a sample search on this topic.

Videos/Presentations

  • A Positive Exposure program called FRAME has an educational film about Familial dysautonomia that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Familial dysautonomia. Genetics Home Reference (GHR). August 2013; http://ghr.nlm.nih.gov/condition/familial-dysautonomia. Accessed 11/5/2013.