HSAN3
MCID: NRP054
MIFTS: 62

Neuropathy, Hereditary Sensory and Autonomic, Type Iii (HSAN3)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 38
Familial Dysautonomia 12 76 24 53 25 54 59 75 37 29 6
Riley-Day Syndrome 57 12 24 25 54 59 75 15
Dysautonomia, Familial 57 53 13 44 73
Hsan Iii 57 12 24 75
Hsan3 57 25 59 75
Fd 53 25 75
Hereditary Sensory and Autonomic Neuropathy Type Iii 59 75
Hereditary Sensory and Autonomic Neuropathy 3 76 53
Dys 57 76
Neuropathy, Sensory and Autonomic, Hereditary, Type Iii 40
Hereditary Sensory and Autonomic Neuropathy Type 3 59
Hereditary Sensoryautonomic Neuropathy, Type Iii 24
Neuropathy, Hereditary Sensory and Autonomic, 3 75
Familial Autonomic Nervous Dysfunction 12
Hereditary Sensory Neuropathy Type 3 53
Dysautonomia, Familial; Dys; Fd 57
Dysautonomia Familial 55
Riley Day Syndrome 53
Rileyday Syndrome 76
Hsan Type Iii 25
Hsn-Iii 25
Hsn Iii 75
Hsan 3 53
Hsn 3 53

Characteristics:

Orphanet epidemiological data:

59
familial dysautonomia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
increased prevalence in persons of ashkenazi jewish descent


HPO:

32
neuropathy, hereditary sensory and autonomic, type iii:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

NINDS : 54 Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Iii, also known as familial dysautonomia, is related to hereditary sensory neuropathy and dysautonomia, and has symptoms including constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iii is ELP1 (Elongator Complex Protein 1), and among its related pathways/superpathways are Neuroscience and Neurotrophic factor-mediated Trk receptor signaling. The drugs Ipratropium and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and kidney, and related phenotypes are hypertension and hyperhidrosis

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 Neuropathy, hereditary sensory and autonomic, 3: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.

Wikipedia : 76 Familial dysautonomia (FD), sometimes called Riley�??Day syndrome and hereditary sensory and autonomic... more...

Description from OMIM: 223900
GeneReviews: NBK1180

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Diseases in the Neuropathy, Hereditary Sensory and Autonomic, Type Iia family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iii
Neuropathy, Hereditary Sensory and Autonomic, Type V Neuropathy, Hereditary Sensory and Autonomic, Type Iib
Neuropathy, Hereditary Sensory and Autonomic, Type Ic Neuropathy, Hereditary Sensory and Autonomic, Type Vi
Neuropathy, Hereditary Sensory and Autonomic, Type Vii Neuropathy, Hereditary Sensory and Autonomic, Type Viii
Hereditary Sensory and Autonomic Neuropathy Type 1

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 32.1 ELP1 NGF NTRK2
2 dysautonomia 30.6 ACTL7B ELP1
3 autonomic neuropathy 29.9 ELP1 NGF
4 insensitivity to pain, congenital, with anhidrosis 11.9
5 fabry disease 11.8
6 auditory neuropathy spectrum disorder 11.5
7 wallerian degeneration 11.2
8 neuropathy, hereditary sensory and autonomic, type vi 11.1
9 fibrous dysplasia/mccune-albright syndrome 11.1
10 primary orthostatic hypotension 11.0
11 macroglossia 10.9
12 panic disorder 1 10.9
13 alexander disease 10.9
14 microcephalic osteodysplastic primordial dwarfism, type i 10.9
15 bowen-conradi syndrome 10.9
16 pycnodysostosis 10.9
17 charcot-marie-tooth disease, axonal, type 2k 10.9
18 spinocerebellar ataxia, autosomal recessive 7 10.9
19 loeys-dietz syndrome 2 10.9
20 deafness, autosomal recessive 59 10.9
21 multiple mitochondrial dysfunctions syndrome 5 10.9
22 childhood-onset cerebral x-linked adrenoleukodystrophy 10.9
23 cardiac arrest 10.9
24 autosomal recessive cutis laxa type i 10.9
25 leukodystrophy 10.9
26 hydranencephaly 10.9
27 congenital intrauterine infection-like syndrome 10.9
28 neonatal adrenoleukodystrophy 10.9
29 horns in sheep 10.3
30 muscular dystrophy 10.3
31 dyspepsia 10.3
32 neuropathy 10.3
33 sudden infant death syndrome 10.2
34 fibrous dysplasia 10.2
35 muscular dystrophy, congenital, lmna-related 10.2
36 arthropathy 10.1
37 congenital muscular dystrophy type 1a 10.1
38 epilepsy 10.0
39 prostate cancer 10.0
40 learning disability 10.0
41 properdin deficiency, x-linked 10.0
42 alopecia areata 2 10.0
43 dwarfism 10.0
44 scoliosis 10.0
45 facioscapulohumeral muscular dystrophy 1 10.0
46 alacrima, achalasia, and mental retardation syndrome 10.0
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
48 jejunoileitis 10.0 ELP1 NGF
49 hepatitis 9.9
50 autonomic nervous system neoplasm 9.9 NGF NTRK2

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
hyporeflexia
incoordination
hypotonia
decreased taste
decreased pain and temperature perception
more
Genitourinary Kidneys:
glomerulosclerosis
impaired renal function

Metabolic Features:
fever, episodic

Head And Neck Mouth:
decreased or absent lingual fungiform papillae
decreased taste

Respiratory:
recurrent infections due to aspiration
decreased sensitivity to hypoxemia
breath-holding episodes

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
diarrhea
poor oral coordination
more
Skin Nails Hair Skin:
acrocyanosis
hyperhidrosis, episodic
erythematous skin blotching

Head And Neck Eyes:
alacrima
decreased corneal reflex
corneal ulceration
pupillary contraction in response to methacholine

Laboratory Abnormalities:
azotemia
increased serum creatinine
increased blood urea nitrogen (bun)
absent axonal flare response after intradermal histamine injection
increased sensitivity to adrenergic and cholinergic agents

Growth Other:
poor growth

Cardiovascular Vascular:
hypertension, episodic
postural hypotension without compensatory tachycardia

Skeletal:
neuropathic arthropathy


Clinical features from OMIM:

223900

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
9 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
10 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
11 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
12 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
13 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
14 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
15 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
16 acrocyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001063
17 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
18 corneal erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200020
19 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
20 abnormality of the pleura 59 32 occasional (7.5%) Occasional (29-5%) HP:0002103
21 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
22 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
23 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
24 malignant hyperthermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002047
25 heterochromia iridis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001100
26 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
27 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
28 hyponatremia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002902
29 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
30 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
31 alacrima 59 32 hallmark (90%) Very frequent (99-80%) HP:0000522
32 orthostatic hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0001278
33 tachycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001649
34 abnormality of the peritoneum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002585
35 emotional lability 32 HP:0000712
36 constipation 32 HP:0002019
37 vomiting 32 HP:0002013
38 abnormal renal physiology 32 HP:0012211
39 peripheral neuropathy 59 Very frequent (99-80%)
40 abnormality of the kidney 59 Occasional (29-5%)
41 elevated serum creatinine 32 HP:0003259
42 abnormality of the pupil 59 Very frequent (99-80%)
43 diarrhea 32 HP:0002014
44 generalized hypotonia 32 HP:0001290
45 incoordination 32 HP:0002311
46 episodic fever 32 HP:0001954
47 glomerulosclerosis 32 HP:0000096
48 increased blood urea nitrogen 32 HP:0003138
49 decreased corneal reflex 32 HP:0008000
50 decreased taste sensation 32 HP:0000224

UMLS symptoms related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:


constipation, diarrhea

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Drugs for Neuropathy, Hereditary Sensory and Autonomic, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ipratropium Approved Phase 3 60205-81-4, 22254-24-6 43232
2
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359 38101
3
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
4 Bromides Phase 3
5 Anticonvulsants Phase 3
6 Adrenergic beta-Agonists Phase 3
7 Adrenergic Agonists Phase 3
8 Anti-Asthmatic Agents Phase 3
9 Cholinergic Antagonists Phase 3
10 Neurotransmitter Agents Phase 3,Phase 2
11 Peripheral Nervous System Agents Phase 3,Phase 2
12 Bronchodilator Agents Phase 3
13 Cholinergic Agents Phase 3
14 Adrenergic Agents Phase 3
15 Adrenergic beta-2 Receptor Agonists Phase 3
16 Pharmaceutical Solutions Phase 3
17 Respiratory System Agents Phase 3
18 Tocolytic Agents Phase 3
19 Albuterol Phase 3
20 Autonomic Agents Phase 3
21 Dopamine Agents Phase 3,Phase 2
22 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2
23 Antiparkinson Agents Phase 3,Phase 2
24
Kinetin Approved Phase 2 525-79-1 3830
25
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
26
Norepinephrine Approved Phase 2 51-41-2 439260
27 Hormone Antagonists Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Analgesics Phase 2
30 Hallucinogens Phase 2
31 Hormones Phase 2
32 Psychotropic Drugs Phase 2
33 Cannabinoid Receptor Agonists Phase 2
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
2 Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia Completed NCT01212484 Phase 3 Carbidopa;Placebo
3 The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia Recruiting NCT02274051 Phase 2
4 The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia Recruiting NCT02608931 Phase 2 Dronabinol
5 The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia Recruiting NCT02276716 Phase 2 Phosphatidylserine
6 Carbidopa for the Treatment of Excessive Blood Pressure Variability Recruiting NCT02553265 Phase 2 Carbidopa Low Dose;Carbidopa High Dose
7 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
8 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
9 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Active, not recruiting NCT03013777 Not Applicable
10 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Enrolling by invitation NCT02876939 Not Applicable

Search NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Cochrane evidence based reviews: dysautonomia, familial

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

# Genetic test Affiliating Genes
1 Familial Dysautonomia 29 ELP1

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

41
Skin, Testes, Kidney, Lung, Brain, Heart, Eye

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

(show top 50) (show all 427)
# Title Authors Year
1
Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. ( 29680425 )
2018
2
Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. ( 29196937 )
2018
3
A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. ( 29234869 )
2018
4
Ambulatory blood pressure profiles in familial dysautonomia. ( 29435868 )
2018
5
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. ( 29701768 )
2018
6
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice. ( 29672717 )
2018
7
Characteristics of ataxic gait in familial dysautonomia patients. ( 29698477 )
2018
8
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells. ( 29762696 )
2018
9
Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia. ( 28161223 )
2018
10
Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia. ( 29929962 )
2018
11
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. ( 30053970 )
2018
12
Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia. ( 30063663 )
2018
13
Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. ( 30085848 )
2018
14
Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study. ( 30334929 )
2018
15
Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. ( 28674865 )
2017
16
The familial dysautonomia disease gene<i>IKBKAP</i>is required in the developing and adult mouse central nervous system. ( 28167615 )
2017
17
RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia. ( 28592461 )
2017
18
<i>IKBKAP/ELP1</i> gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. ( 29290691 )
2017
19
Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study. ( 28521050 )
2017
20
Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. ( 29289840 )
2017
21
Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. ( 28395083 )
2017
22
Animal and cellular models of familial dysautonomia. ( 28667575 )
2017
23
Familial dysautonomia: a disease with hidden tears. ( 28401297 )
2017
24
BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia. ( 28439028 )
2017
25
Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia. ( 28404519 )
2017
26
Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. ( 27752785 )
2017
27
Caring for adolescents with familial dysautonomia. ( 28027135 )
2017
28
Basic research and model systems in familial dysautonomia: What do we know and what's next? ( 28707017 )
2017
29
Erratum to: Animal and cellular models of familial dysautonomia. ( 28717942 )
2017
30
Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia. ( 26724390 )
2016
31
MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia. ( 27483351 )
2016
32
Poster 72 Teetering on the Edge: Rehabilitation in a Medically Complex Patient with Familial Dysautonomia (Hereditary Sensory Autonomic Neuropathy Type III): A Case Report. ( 27672840 )
2016
33
Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study. ( 27129499 )
2016
34
Obstructive Sleep Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia. ( 27655467 )
2016
35
Mother-induced hypertension in familial dysautonomia. ( 26589199 )
2016
36
Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia. ( 27613312 )
2016
37
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. ( 26769677 )
2016
38
Familial dysautonomia: History, genotype, phenotype and translational research. ( 27317387 )
2016
39
Familial Dysautonomia: Mechanisms and Models. ( 27561110 )
2016
40
Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia. ( 27997532 )
2016
41
Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia. ( 27699209 )
2016
42
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia. ( 27841875 )
2016
43
Sleep Apnea in Familial Dysautonomia: A Reflection of Apnea Pathogenesis. ( 27855745 )
2016
44
Contemporary perioperative management of adult familial dysautonomia (riley-day syndrome). ( 25909774 )
2015
45
Mouse models for Familial Dysautonomia reveal underlying cellular and molecular mechanisms that cause the human disease. ( 26531342 )
2015
46
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. ( 26542466 )
2015
47
Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation. ( 26437462 )
2015
48
Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia. ( 25675486 )
2015
49
Laughter is not always funny: breath-holding spells in familial dysautonomia. ( 25539948 )
2015
50
Balance training using an iPhone application in people with familial dysautonomia: three case reports. ( 25504486 )
2015

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

75
# Symbol AA change Variation ID SNP ID
1 ELP1 p.Arg696Pro VAR_011327 rs137853022

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

6 (show top 50) (show all 501)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELP1 NM_003640.4(ELP1): c.2204+6T> C single nucleotide variant Pathogenic rs111033171 GRCh37 Chromosome 9, 111662096: 111662096
2 ELP1 NM_003640.4(ELP1): c.2204+6T> C single nucleotide variant Pathogenic rs111033171 GRCh38 Chromosome 9, 108899816: 108899816
3 ELP1 NM_003640.4(ELP1): c.2087G> C (p.Arg696Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137853022 GRCh37 Chromosome 9, 111662583: 111662583
4 ELP1 NM_003640.4(ELP1): c.2087G> C (p.Arg696Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137853022 GRCh38 Chromosome 9, 108900303: 108900303
5 ELP1 NM_003640.4(ELP1): c.2741C> T (p.Pro914Leu) single nucleotide variant Pathogenic rs28939712 GRCh37 Chromosome 9, 111656342: 111656342
6 ELP1 NM_003640.4(ELP1): c.2741C> T (p.Pro914Leu) single nucleotide variant Pathogenic rs28939712 GRCh38 Chromosome 9, 108894062: 108894062
7 ELP1 NM_003640.4(ELP1): c.1542C> T (p.Phe514=) single nucleotide variant Likely benign rs267602078 GRCh37 Chromosome 9, 111668684: 111668684
8 ELP1 NM_003640.4(ELP1): c.1542C> T (p.Phe514=) single nucleotide variant Likely benign rs267602078 GRCh38 Chromosome 9, 108906404: 108906404
9 ELP1 NM_003640.4(ELP1): c.1542C> T (p.Phe514=) single nucleotide variant Likely benign rs267602078 NCBI36 Chromosome 9, 110708505: 110708505
10 ELP1 NM_003640.4(ELP1): c.751A> G (p.Ser251Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17853166 GRCh37 Chromosome 9, 111679940: 111679940
11 ELP1 NM_003640.4(ELP1): c.751A> G (p.Ser251Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17853166 GRCh38 Chromosome 9, 108917660: 108917660
12 ELP1 NM_003640.4(ELP1): c.819C> T (p.Leu273=) single nucleotide variant Benign/Likely benign rs12340246 GRCh37 Chromosome 9, 111679872: 111679872
13 ELP1 NM_003640.4(ELP1): c.819C> T (p.Leu273=) single nucleotide variant Benign/Likely benign rs12340246 GRCh38 Chromosome 9, 108917592: 108917592
14 ELP1 NM_003640.4(ELP1): c.934G> A (p.Glu312Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1140064 GRCh37 Chromosome 9, 111678508: 111678508
15 ELP1 NM_003640.4(ELP1): c.934G> A (p.Glu312Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1140064 GRCh38 Chromosome 9, 108916228: 108916228
16 ELP1 NM_003640.4(ELP1): c.959-15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112114410 GRCh37 Chromosome 9, 111674789: 111674789
17 ELP1 NM_003640.4(ELP1): c.959-15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112114410 GRCh38 Chromosome 9, 108912509: 108912509
18 ELP1 NM_003640.4(ELP1): c.1230G> A (p.Pro410=) single nucleotide variant Conflicting interpretations of pathogenicity rs41278359 GRCh37 Chromosome 9, 111673420: 111673420
19 ELP1 NM_003640.4(ELP1): c.1230G> A (p.Pro410=) single nucleotide variant Conflicting interpretations of pathogenicity rs41278359 GRCh38 Chromosome 9, 108911140: 108911140
20 ELP1 NM_003640.4(ELP1): c.1574G> A (p.Arg525Gln) single nucleotide variant Benign/Likely benign rs838827 GRCh37 Chromosome 9, 111668652: 111668652
21 ELP1 NM_003640.4(ELP1): c.1574G> A (p.Arg525Gln) single nucleotide variant Benign/Likely benign rs838827 GRCh38 Chromosome 9, 108906372: 108906372
22 ELP1 NM_003640.4(ELP1): c.1926G> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs10979605 GRCh37 Chromosome 9, 111663793: 111663793
23 ELP1 NM_003640.4(ELP1): c.1926G> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs10979605 GRCh38 Chromosome 9, 108901513: 108901513
24 ELP1 NM_003640.4(ELP1): c.1965C> T (p.Thr655=) single nucleotide variant Benign/Likely benign rs2230791 GRCh37 Chromosome 9, 111663754: 111663754
25 ELP1 NM_003640.4(ELP1): c.1965C> T (p.Thr655=) single nucleotide variant Benign/Likely benign rs2230791 GRCh38 Chromosome 9, 108901474: 108901474
26 ELP1 NM_003640.4(ELP1): c.2294G> A (p.Gly765Glu) single nucleotide variant Benign/Likely benign rs2230792 GRCh37 Chromosome 9, 111660851: 111660851
27 ELP1 NM_003640.4(ELP1): c.2294G> A (p.Gly765Glu) single nucleotide variant Benign/Likely benign rs2230792 GRCh38 Chromosome 9, 108898571: 108898571
28 ELP1 NM_003640.4(ELP1): c.2446A> C (p.Ile816Leu) single nucleotide variant Benign/Likely benign rs2230793 GRCh37 Chromosome 9, 111659483: 111659483
29 ELP1 NM_003640.4(ELP1): c.2446A> C (p.Ile816Leu) single nucleotide variant Benign/Likely benign rs2230793 GRCh38 Chromosome 9, 108897203: 108897203
30 ELP1 NM_003640.4(ELP1): c.2490A> G (p.Ile830Met) single nucleotide variant Benign/Likely benign rs2230794 GRCh37 Chromosome 9, 111659439: 111659439
31 ELP1 NM_003640.4(ELP1): c.2490A> G (p.Ile830Met) single nucleotide variant Benign/Likely benign rs2230794 GRCh38 Chromosome 9, 108897159: 108897159
32 ELP1 NM_003640.4(ELP1): c.2587+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141670242 GRCh37 Chromosome 9, 111659219: 111659219
33 ELP1 NM_003640.4(ELP1): c.2587+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141670242 GRCh38 Chromosome 9, 108896939: 108896939
34 ELP1 NM_003640.4(ELP1): c.189C> T (p.Leu63=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230786 GRCh37 Chromosome 9, 111692163: 111692163
35 ELP1 NM_003640.4(ELP1): c.189C> T (p.Leu63=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230786 GRCh38 Chromosome 9, 108929883: 108929883
36 ELP1 NM_003640.4(ELP1): c.3285+9C> T single nucleotide variant Benign/Likely benign rs2275495 GRCh37 Chromosome 9, 111644396: 111644396
37 ELP1 NM_003640.4(ELP1): c.3285+9C> T single nucleotide variant Benign/Likely benign rs2275495 GRCh38 Chromosome 9, 108882116: 108882116
38 ELP1 NM_003640.4(ELP1): c.441G> A (p.Gln147=) single nucleotide variant Benign/Likely benign rs2230788 GRCh37 Chromosome 9, 111688828: 111688828
39 ELP1 NM_003640.4(ELP1): c.441G> A (p.Gln147=) single nucleotide variant Benign/Likely benign rs2230788 GRCh38 Chromosome 9, 108926548: 108926548
40 ELP1 NM_003640.4(ELP1): c.-71G> C single nucleotide variant Benign/Likely benign rs2275639 GRCh37 Chromosome 9, 111696159: 111696159
41 ELP1 NM_003640.4(ELP1): c.-71G> C single nucleotide variant Benign/Likely benign rs2275639 GRCh38 Chromosome 9, 108933879: 108933879
42 ELP1 NM_003640.4(ELP1): c.1886G> A (p.Arg629His) single nucleotide variant Conflicting interpretations of pathogenicity rs148378319 GRCh37 Chromosome 9, 111663930: 111663930
43 ELP1 NM_003640.4(ELP1): c.1886G> A (p.Arg629His) single nucleotide variant Conflicting interpretations of pathogenicity rs148378319 GRCh38 Chromosome 9, 108901650: 108901650
44 ELP1 NM_003640.4(ELP1): c.3280A> G (p.Arg1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs146440397 GRCh37 Chromosome 9, 111644410: 111644410
45 ELP1 NM_003640.4(ELP1): c.3280A> G (p.Arg1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs146440397 GRCh38 Chromosome 9, 108882130: 108882130
46 ELP1 NM_003640.4(ELP1): c.2825G> A (p.Arg942Gln) single nucleotide variant Uncertain significance rs149845612 GRCh37 Chromosome 9, 111656258: 111656258
47 ELP1 NM_003640.4(ELP1): c.2825G> A (p.Arg942Gln) single nucleotide variant Uncertain significance rs149845612 GRCh38 Chromosome 9, 108893978: 108893978
48 ELP1 NM_003640.4(ELP1): c.3014C> T (p.Ala1005Val) single nucleotide variant Uncertain significance rs55658431 GRCh37 Chromosome 9, 111653629: 111653629
49 ELP1 NM_003640.4(ELP1): c.3014C> T (p.Ala1005Val) single nucleotide variant Uncertain significance rs55658431 GRCh38 Chromosome 9, 108891349: 108891349
50 ELP1 NM_003640.4(ELP1): c.2543C> A (p.Thr848Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs10979599 GRCh37 Chromosome 9, 111659277: 111659277

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Iii.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Pathways related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.87 DBH NGF NTRK2
2
Show member pathways
11.04 NGF NTRK2
3 10.61 NGF NTRK2
4
Show member pathways
9.66 NGF NTRK2

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription elongation factor complex GO:0008023 9.13 ELP1 ELP2 ELP3
2 Elongator holoenzyme complex GO:0033588 8.8 ELP1 ELP2 ELP3

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.4 NGF NTRK2
2 memory GO:0007613 9.37 DBH NGF
3 positive regulation of axonogenesis GO:0050772 9.32 NGF NTRK2
4 regulation of protein kinase activity GO:0045859 9.26 ELP1 ELP3
5 neurotrophin TRK receptor signaling pathway GO:0048011 9.16 NGF NTRK2
6 tRNA wobble uridine modification GO:0002098 8.96 ELP1 ELP2
7 transcription elongation from RNA polymerase II promoter GO:0006368 8.8 ELP1 ELP2 ELP3

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylase kinase regulator activity GO:0008607 8.96 ELP1 ELP3
2 RNA polymerase II complex binding GO:0000993 8.8 ELP1 ELP2 ELP3

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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