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Familial dysautonomia(HSAN3)

MedGen UID:
41678
Concept ID:
C0013364
Congenital Abnormality; Disease or Syndrome
Synonyms: FD; Hereditary sensory and autonomic neuropathy 3; Hereditary sensory neuropathy type 3; HSAN 3; HSAN III; HSAN3; HSN 3; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Riley Day syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary sensory and autonomic neuropathy type III (29159009); HSAN III (29159009); Hereditary sensory and autonomic neuropathy, type III (29159009); Familial dysautonomia (29159009); Riley-Day syndrome (29159009); Dominant hereditary sensory neuropathy, type III (29159009)
 
Gene (location): ELP1 (9q31.3)
OMIM®: 223900
Orphanet: ORPHA1764

Disease characteristics

Excerpted from the GeneReview: Familial Dysautonomia
Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased. [from GeneReviews]
Authors:
Mordechai Shohat  |  Monika Weisz Hubshman   view full author information

Additional description

From GHR
Familial dysautonomia 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 also called hereditary sensory and autonomic neuropathy, type III.Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia may hold their breath for prolonged periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. This breath-holding behavior usually stops by age 6. Developmental milestones, such as walking and speech, are usually delayed, although some affected individuals show no signs of developmental delay.Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of the spine (scoliosis), poor bone quality and increased risk of bone fractures, and kidney and heart problems. Affected individuals also have poor regulation of blood pressure. They may experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. They can also have episodes of high blood pressure when nervous or excited, or during vomiting incidents. About one-third of children with familial dysautonomia have learning disabilities, such as a short attention span, that require special education classes. By adulthood, affected individuals often have increasing difficulties with balance and walking unaided. Other problems that may appear in adolescence or early adulthood include lung damage due to repeated infections, impaired kidney function, and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry information from the eyes to the brain.  https://ghr.nlm.nih.gov/condition/familial-dysautonomia

Clinical features

Neuropathic arthropathy
MedGen UID:
13919
Concept ID:
C0003892
Disease or Syndrome
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Corneal ulceration
MedGen UID:
40486
Concept ID:
C0010043
Disease or Syndrome
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Finding
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Mood swings
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
Increased blood urea nitrogen
MedGen UID:
760252
Concept ID:
C0151539
Finding
Decreased corneal reflex
MedGen UID:
57723
Concept ID:
C0151572
Finding
Kidney dysfunction
MedGen UID:
508816
Concept ID:
C0151746
Pathologic Function
Decreased taste sensation
MedGen UID:
57498
Concept ID:
C0151934
Finding
Recurrent corneal erosions
MedGen UID:
56353
Concept ID:
C0155119
Disease or Syndrome
Glomerulosclerosis
MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Finding
Episodic fever
MedGen UID:
82922
Concept ID:
C0277799
Finding
Alacrima
MedGen UID:
87488
Concept ID:
C0344505
Disease or Syndrome
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Finding
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Elevated serum creatinine
MedGen UID:
148579
Concept ID:
C0700225
Finding
Episodic hyperhidrosis
MedGen UID:
387757
Concept ID:
C1857171
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Decreased number of large peripheral myelinated nerve fibers
MedGen UID:
395303
Concept ID:
C1859606
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Recurrent infections due to aspiration
MedGen UID:
812615
Concept ID:
C3806285
Finding
Decreased sensitivity to hypoxemia
MedGen UID:
812616
Concept ID:
C3806286
Finding
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

Recent clinical studies

Etiology

Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H
Sleep 2017 Aug 1;40(8) doi: 10.1093/sleep/zsx083. PMID: 28521050
Dillon RC, Palma JA, Spalink CL, Altshuler D, Norcliffe-Kaufmann L, Fridman D, Papadopoulos J, Kaufmann H
Clin Auton Res 2017 Feb;27(1):7-15. Epub 2016 Oct 17 doi: 10.1007/s10286-016-0383-5. PMID: 27752785Free PMC Article
Hilz MJ, Moeller S, Buechner S, Czarkowska H, Ayappa I, Axelrod FB, Rapoport DM
J Clin Sleep Med 2016 Dec 15;12(12):1607-1614. doi: 10.5664/jcsm.6342. PMID: 27655467Free PMC Article
Milne A, Mon WY, Down J, Obichere A, Ackland GL
A A Case Rep 2015 May 1;4(9):111-3. doi: 10.1213/XAA.0000000000000141. PMID: 25909774
Maayan C, Katz E, Begin M, Yuvchev I, Kharasch VS
Clin Pediatr (Phila) 2015 Feb;54(2):174-8. Epub 2014 Dec 23 doi: 10.1177/0009922814563512. PMID: 25539948

Diagnosis

Zeltner N, Fattahi F, Dubois NC, Saurat N, Lafaille F, Shang L, Zimmer B, Tchieu J, Soliman MA, Lee G, Casanova JL, Studer L
Nat Med 2016 Dec;22(12):1421-1427. Epub 2016 Nov 14 doi: 10.1038/nm.4220. PMID: 27841875Free PMC Article
Lefler S, Cohen MA, Kantor G, Cheishvili D, Even A, Birger A, Turetsky T, Gil Y, Even-Ram S, Aizenman E, Bashir N, Maayan C, Razin A, Reubinoff BE, Weil M
PLoS One 2015;10(10):e0138807. Epub 2015 Oct 5 doi: 10.1371/journal.pone.0138807. PMID: 26437462Free PMC Article
Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H
Muscle Nerve 2015 Nov;52(5):887-90. Epub 2015 Aug 13 doi: 10.1002/mus.24781. PMID: 26202308Free PMC Article
Daniel SJ, Cardona I
Int J Pediatr Otorhinolaryngol 2014 May;78(5):879-81. Epub 2014 Feb 15 doi: 10.1016/j.ijporl.2014.02.011. PMID: 24725647
Nussinovitch U, Katz U, Nussinovitch M, Nussinovitch N
Isr Med Assoc J 2009 Oct;11(10):615-8. PMID: 20077949

Therapy

Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H
Sleep 2017 Aug 1;40(8) doi: 10.1093/sleep/zsx083. PMID: 28521050
Dillon RC, Palma JA, Spalink CL, Altshuler D, Norcliffe-Kaufmann L, Fridman D, Papadopoulos J, Kaufmann H
Clin Auton Res 2017 Feb;27(1):7-15. Epub 2016 Oct 17 doi: 10.1007/s10286-016-0383-5. PMID: 27752785Free PMC Article
Naftelberg S, Abramovitch Z, Gluska S, Yannai S, Joshi Y, Donyo M, Ben-Yaakov K, Gradus T, Zonszain J, Farhy C, Ashery-Padan R, Perlson E, Ast G
PLoS Genet 2016 Dec;12(12):e1006486. Epub 2016 Dec 20 doi: 10.1371/journal.pgen.1006486. PMID: 27997532Free PMC Article
Cheishvili D, Maayan C, Holzer N, Tsenter J, Lax E, Petropoulos S, Razin A
J Mol Neurosci 2016 Jul;59(3):382-91. Epub 2016 Apr 30 doi: 10.1007/s12031-016-0760-5. PMID: 27129499
Daniel SJ, Cardona I
Int J Pediatr Otorhinolaryngol 2014 May;78(5):879-81. Epub 2014 Feb 15 doi: 10.1016/j.ijporl.2014.02.011. PMID: 24725647

Prognosis

Maayan C, Katz E, Begin M, Yuvchev I, Kharasch VS
Clin Pediatr (Phila) 2015 Feb;54(2):174-8. Epub 2014 Dec 23 doi: 10.1177/0009922814563512. PMID: 25539948
Daniel SJ, Cardona I
Int J Pediatr Otorhinolaryngol 2014 May;78(5):879-81. Epub 2014 Feb 15 doi: 10.1016/j.ijporl.2014.02.011. PMID: 24725647
Axelrod FB, Rolnitzky L, Gold von Simson G, Berlin D, Kaufmann H
J Pediatr 2012 Dec;161(6):1160-5. Epub 2012 Jun 23 doi: 10.1016/j.jpeds.2012.05.038. PMID: 22727867Free PMC Article
Nussinovitch U, Katz U, Nussinovitch M, Nussinovitch N
Isr Med Assoc J 2010 Dec;12(12):729-31. PMID: 21348399
Nussinovitch U, Katz U, Nussinovitch M, Nussinovitch N
Pediatr Cardiol 2009 Aug;30(6):747-51. Epub 2009 Apr 2 doi: 10.1007/s00246-009-9419-0. PMID: 19340477

Clinical prediction guides

Mendoza-Santiesteban CE, Palma JA, Hedges TR 3rd, Laver NV, Farhat N, Norcliffe-Kaufmann L, Kaufmann H
J Neuropathol Exp Neurol 2017 Mar 1;76(3):238-244. doi: 10.1093/jnen/nlw118. PMID: 28395083Free PMC Article
Fuente Mora C, Palma JA, Kaufmann H, Norcliffe-Kaufmann L
J Cereb Blood Flow Metab 2017 Jul;37(7):2414-2422. Epub 2016 Jan 1 doi: 10.1177/0271678X16667524. PMID: 27613312Free PMC Article
Cheishvili D, Maayan C, Holzer N, Tsenter J, Lax E, Petropoulos S, Razin A
J Mol Neurosci 2016 Jul;59(3):382-91. Epub 2016 Apr 30 doi: 10.1007/s12031-016-0760-5. PMID: 27129499
Lefler S, Cohen MA, Kantor G, Cheishvili D, Even A, Birger A, Turetsky T, Gil Y, Even-Ram S, Aizenman E, Bashir N, Maayan C, Razin A, Reubinoff BE, Weil M
PLoS One 2015;10(10):e0138807. Epub 2015 Oct 5 doi: 10.1371/journal.pone.0138807. PMID: 26437462Free PMC Article
Nussinovitch U, Katz U, Nussinovitch M, Nussinovitch N
Isr Med Assoc J 2010 Dec;12(12):729-31. PMID: 21348399

Recent systematic reviews

Weingarten TN, Sprung J, Burgher AH
Eur J Anaesthesiol 2007 Apr;24(4):309-16. Epub 2007 Jan 4 doi: 10.1017/S026502150600192X. PMID: 17202006
ACOG Committee on Genetics.
Obstet Gynecol 2004 Aug;104(2):425-8. PMID: 15292027

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