HSAN3
MCID: NRP054
MIFTS: 67

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 58 39
Familial Dysautonomia 12 77 25 54 26 55 60 76 38 30 6
Riley-Day Syndrome 58 12 77 25 26 55 60 76 15
Dysautonomia, Familial 58 54 13 45 74
Hsan Iii 58 12 25 76
Hsan3 58 26 60 76
Fd 54 26 76
Hereditary Sensory and Autonomic Neuropathy Type Iii 60 76
Hereditary Sensory and Autonomic Neuropathy 3 77 54
Dys 58 77
Neuropathy, Sensory and Autonomic, Hereditary, Type Iii 41
Hereditary Sensory and Autonomic Neuropathy Type 3 60
Hereditary Sensory Autonomic Neuropathy, Type Iii 25
Neuropathy, Hereditary Sensory and Autonomic, 3 76
Familial Autonomic Nervous Dysfunction 12
Hereditary Sensory Neuropathy Type 3 54
Dysautonomia, Familial; Dys; Fd 58
Dysautonomia Familial 56
Riley Day Syndrome 54
Hsan Type Iii 26
Hsn-Iii 26
Hsn Iii 76
Hsan 3 54
Hsn 3 54

Characteristics:

Orphanet epidemiological data:

60
familial dysautonomia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 55 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 insensitivity to pain, congenital, with anhidrosis and hereditary sensory neuropathy, 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 TGF-Beta Pathway and Phospholipase-C Pathway. The drugs Ipratropium and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include heart, prostate and kidney, and related phenotypes are hyperhidrosis and feeding difficulties in infancy

Genetics Home Reference : 26 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 : 54 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 : 76 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 : 77 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 387)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 33.0 BDNF NTRK1
2 hereditary sensory neuropathy 31.8 ELP1 NGF NTRK1 NTRK2
3 dysautonomia 30.7 ACTL7B ELP1 NTRK1
4 autonomic neuropathy 29.7 ELP1 NGF NTRK1
5 pheochromocytoma 29.1 DBH NGF NTRK1
6 fabry disease 12.0
7 auditory neuropathy spectrum disorder 11.5
8 cardiac arrest 11.3
9 wallerian degeneration 11.3
10 neuropathy, hereditary sensory and autonomic, type vi 11.2
11 fibrous dysplasia/mccune-albright syndrome 11.1
12 primary orthostatic hypotension 11.1
13 macroglossia 11.0
14 panic disorder 1 11.0
15 alexander disease 11.0
16 microcephalic osteodysplastic primordial dwarfism, type i 11.0
17 bowen-conradi syndrome 11.0
18 pycnodysostosis 11.0
19 charcot-marie-tooth disease, axonal, type 2k 11.0
20 spinocerebellar ataxia, autosomal recessive 7 11.0
21 loeys-dietz syndrome 2 11.0
22 deafness, autosomal recessive 59 11.0
23 multiple mitochondrial dysfunctions syndrome 5 11.0
24 childhood-onset cerebral x-linked adrenoleukodystrophy 11.0
25 loeys-dietz syndrome 11.0
26 walker-warburg syndrome 11.0
27 autosomal recessive cutis laxa type i 11.0
28 leukodystrophy 11.0
29 hydranencephaly 11.0
30 congenital intrauterine infection-like syndrome 11.0
31 neonatal adrenoleukodystrophy 11.0
32 yusho disease 11.0
33 horns in sheep 10.7
34 dyspepsia 10.4
35 muscular dystrophy 10.3
36 sudden infant death syndrome 10.3
37 fibrous dysplasia 10.3
38 dementia 10.2
39 ganglioneuroblastoma 10.2 NTRK1 NTRK2
40 muscular dystrophy, congenital, lmna-related 10.2
41 olfactory neuroblastoma 10.2 NTRK1 NTRK2
42 joint disorders 10.1
43 arthropathy 10.1
44 ganglioneuroma 10.1 NTRK1 NTRK2
45 nodular ganglioneuroblastoma 10.1 BDNF NTRK2
46 congenital muscular dystrophy type 1a 10.1
47 pure autonomic failure 10.1
48 vertebral artery occlusion 10.1 BDNF NTRK2
49 prostate cancer 10.1
50 prostate cancer, hereditary, 8 10.1

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

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

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
2 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
3 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
4 hypohidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000966
5 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
6 malignant hyperthermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002047
7 impaired pain sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007328
8 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
9 alacrima 60 33 hallmark (90%) Very frequent (99-80%) HP:0000522
10 orthostatic hypotension 60 33 hallmark (90%) Very frequent (99-80%) HP:0001278
11 abnormal pupil morphology 33 hallmark (90%) HP:0000615
12 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
13 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
14 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
15 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
16 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
17 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
18 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
19 corneal erosion 60 33 frequent (33%) Frequent (79-30%) HP:0200020
20 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
21 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
22 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
23 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
24 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
25 acrocyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001063
26 abnormality of the pleura 60 33 occasional (7.5%) Occasional (29-5%) HP:0002103
27 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
28 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
29 heterochromia iridis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001100
30 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
31 hyponatremia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002902
32 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
33 tachycardia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001649
34 abnormality of the peritoneum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002585
35 avascular necrosis 33 occasional (7.5%) HP:0010885
36 emotional lability 33 HP:0000712
37 constipation 33 HP:0002019
38 aseptic necrosis 60 Occasional (29-5%)
39 vomiting 33 HP:0002013
40 abnormal renal physiology 33 HP:0012211
41 peripheral neuropathy 60 Very frequent (99-80%)
42 abnormality of the kidney 60 Occasional (29-5%)
43 elevated serum creatinine 33 HP:0003259
44 abnormality of the pupil 60 Very frequent (99-80%)
45 diarrhea 33 HP:0002014
46 generalized hypotonia 33 HP:0001290
47 episodic hyperhidrosis 33 HP:0001069
48 incoordination 33 HP:0002311
49 glomerulosclerosis 33 HP:0000096
50 corneal ulceration 33 HP:0012804

Symptoms via clinical synopsis from OMIM:

58
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
corneal ulceration
decreased corneal reflex
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

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


constipation, diarrhea

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 BDNF DBH ELP1 ELP3 NGF NTRK1
2 integument MP:0010771 9.35 BDNF DBH ELP1 NGF NTRK1
3 vision/eye MP:0005391 9.1 BDNF DBH ELP1 NGF NTRK1 NTRK2

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, Experimental Phase 3 22254-24-6, 60205-81-4 657309 43232
2
Carbidopa Approved Phase 3,Phase 2 28860-95-9 34359
3
Dopamine Approved Phase 3,Phase 2 62-31-7, 51-61-6 681
4 Anti-Asthmatic Agents Phase 3
5 Autonomic Agents Phase 3
6 Bromides Phase 3
7 Adrenergic Agonists Phase 3
8 Adrenergic Agents Phase 3
9 Adrenergic beta-2 Receptor Agonists Phase 3
10 Tocolytic Agents Phase 3
11 Bronchodilator Agents Phase 3
12 Respiratory System Agents Phase 3
13 Neurotransmitter Agents Phase 3,Phase 2
14 Cholinergic Agents Phase 3
15 Cholinergic Antagonists Phase 3
16 Peripheral Nervous System Agents Phase 3,Phase 2
17 Albuterol Phase 3
18 Anticonvulsants Phase 3
19 Pharmaceutical Solutions Phase 3
20 Adrenergic beta-Agonists 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 Hormones Phase 2
28 Analgesics Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
30 Hormone Antagonists Phase 2
31 Cannabinoid Receptor Agonists Phase 2
32 Psychotropic Drugs Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Hallucinogens Phase 2

Interventional clinical trials:

(show all 12)
# 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 A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Completed NCT03013777 Not Applicable
8 Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. Completed NCT01999257 Not Applicable
9 The Natural History of Familial Dysautonomia Recruiting NCT03920774
10 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
11 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Enrolling by invitation NCT02876939 Not Applicable
12 Telemedicine Clinical Trial for Cognitive Behavioral Therapy in Familial Dysautonomia Not yet recruiting NCT03911063 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 30 ELP1

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

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

42
Heart, Prostate, Kidney, Skin, Bone, Brain, 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 432)
# Title Authors Year
1
Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. ( 30085848 )
2019
2
Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study. ( 30334929 )
2019
3
Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia. ( 30637592 )
2019
4
Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. ( 30783821 )
2019
5
Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients. ( 30889183 )
2019
6
Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep. ( 30890343 )
2019
7
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. ( 30905397 )
2019
8
Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. ( 29196937 )
2018
9
A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. ( 29234869 )
2018
10
Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. ( 29289840 )
2018
11
Ambulatory blood pressure profiles in familial dysautonomia. ( 29435868 )
2018
12
Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice. ( 29672717 )
2018
13
Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. ( 29680425 )
2018
14
Characteristics of ataxic gait in familial dysautonomia patients. ( 29698477 )
2018
15
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. ( 29701768 )
2018
16
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells. ( 29762696 )
2018
17
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
18
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. ( 30053970 )
2018
19
Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia. ( 30063663 )
2018
20
Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia. ( 28161223 )
2018
21
Erratum to: Animal and cellular models of familial dysautonomia. ( 28717942 )
2017
22
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. ( 29290691 )
2017
23
Familial dysautonomia: History, genotype, phenotype and translational research. ( 27317387 )
2017
24
Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia. ( 27613312 )
2017
25
Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. ( 27752785 )
2017
26
Caring for adolescents with familial dysautonomia. ( 28027135 )
2017
27
The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system. ( 28167615 )
2017
28
Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. ( 28395083 )
2017
29
Familial dysautonomia: a disease with hidden tears. ( 28401297 )
2017
30
Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia. ( 28404519 )
2017
31
BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia. ( 28439028 )
2017
32
Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study. ( 28521050 )
2017
33
RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia. ( 28592461 )
2017
34
Animal and cellular models of familial dysautonomia. ( 28667575 )
2017
35
Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. ( 28674865 )
2017
36
Basic research and model systems in familial dysautonomia: What do we know and what's next? ( 28707017 )
2017
37
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. ( 26542466 )
2016
38
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
39
Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation. ( 26525363 )
2016
40
Brainstem reflexes in familial dysautonomia. Reply to "Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation". ( 26529998 )
2016
41
Mother-induced hypertension in familial dysautonomia. ( 26589199 )
2016
42
Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia. ( 26724390 )
2016
43
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. ( 26769677 )
2016
44
Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study. ( 27129499 )
2016
45
MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia. ( 27483351 )
2016
46
Familial Dysautonomia: Mechanisms and Models. ( 27561110 )
2016
47
Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia. ( 27655467 )
2016
48
Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia. ( 27699209 )
2016
49
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia. ( 27841875 )
2016
50
Sleep Apnea in Familial Dysautonomia: A Reflection of Apnea Pathogenesis. ( 27855745 )
2016

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

76
# 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_003640.3(ELP1): c.2204+6T> C single nucleotide variant Pathogenic rs111033171 GRCh37 Chromosome 9, 111662096: 111662096
2 ELP1 NM_003640.3(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_003640.5(ELP1): c.1886G> A (p.Arg629His) single nucleotide variant Conflicting interpretations of pathogenicity rs148378319 GRCh37 Chromosome 9, 111663930: 111663930
43 ELP1 NM_003640.5(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 Conflicting interpretations of pathogenicity rs149845612 GRCh37 Chromosome 9, 111656258: 111656258
47 ELP1 NM_003640.4(ELP1): c.2825G> A (p.Arg942Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149845612 GRCh38 Chromosome 9, 108893978: 108893978
48 ELP1 NM_003640.3(ELP1): c.3014C> T (p.Ala1005Val) single nucleotide variant Uncertain significance rs55658431 GRCh37 Chromosome 9, 111653629: 111653629
49 ELP1 NM_003640.3(ELP1): c.3014C> T (p.Ala1005Val) single nucleotide variant Uncertain significance rs55658431 GRCh38 Chromosome 9, 108891349: 108891349
50 ELP1 NM_003640.3(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:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 BDNF ELP2 NGF NTRK1 NTRK2
2
Show member pathways
12.78 BDNF NGF NTRK1 NTRK2
3
Show member pathways
12.77 BDNF NGF NTRK1 NTRK2
4
Show member pathways
12.7 BDNF NGF NTRK1 NTRK2
5 12.49 BDNF NGF NTRK1 NTRK2
6
Show member pathways
12.44 BDNF NGF NTRK1 NTRK2
7
Show member pathways
12.41 BDNF NGF NTRK1 NTRK2
8
Show member pathways
12.31 BDNF NGF NTRK1 NTRK2
9 12.24 DBH NGF NTRK1 NTRK2
10
Show member pathways
12.13 BDNF NGF NTRK1 NTRK2
11 11.94 BDNF NGF NTRK2
12
Show member pathways
11.94 BDNF NGF NTRK1 NTRK2
13 11.78 BDNF NGF NTRK1 NTRK2
14 11.63 BDNF NGF NTRK1 NTRK2
15 11.36 BDNF NGF NTRK1 NTRK2
16 11.25 NTRK1 NTRK2
17 11.11 BDNF NTRK2
18
Show member pathways
11.04 BDNF NGF NTRK1 NTRK2
19 10.76 BDNF NGF NTRK1 NTRK2
20 10.66 BDNF NTRK2
21 10.58 BDNF NGF NTRK1 NTRK2
22
Show member pathways
10.37 NGF NTRK1 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 cytoplasm GO:0005737 9.97 ACTL7B BDNF DBH ELP1 ELP2 ELP3
2 cytoplasmic vesicle GO:0031410 9.62 BDNF DBH NGF NTRK1
3 dendrite GO:0030425 9.56 BDNF NGF NTRK1 NTRK2
4 axon GO:0030424 9.46 BDNF NGF NTRK1 NTRK2
5 transcription elongation factor complex GO:0008023 9.13 ELP1 ELP2 ELP3
6 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:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.85 BDNF ELP3 NTRK1 NTRK2
2 memory GO:0007613 9.65 BDNF DBH NGF
3 transcription elongation from RNA polymerase II promoter GO:0006368 9.63 ELP1 ELP2 ELP3
4 activation of MAPKK activity GO:0000186 9.62 NGF NTRK1
5 phosphatidylinositol-mediated signaling GO:0048015 9.61 NGF NTRK1
6 cellular response to nerve growth factor stimulus GO:1990090 9.61 NTRK1 NTRK2
7 positive regulation of axonogenesis GO:0050772 9.6 NGF NTRK2
8 activation of phospholipase C activity GO:0007202 9.59 BDNF NTRK2
9 regulation of protein kinase activity GO:0045859 9.58 ELP1 ELP3
10 peripheral nervous system development GO:0007422 9.58 BDNF NGF
11 positive regulation of synapse assembly GO:0051965 9.58 BDNF NTRK1 NTRK2
12 regulation of neuron differentiation GO:0045664 9.57 BDNF NGF
13 positive regulation of Ras protein signal transduction GO:0046579 9.56 NGF NTRK1
14 negative regulation of neuron apoptotic process GO:0043524 9.56 BDNF NGF NTRK1 NTRK2
15 tRNA wobble uridine modification GO:0002098 9.54 ELP1 ELP2
16 nerve development GO:0021675 9.52 BDNF NGF
17 positive regulation of collateral sprouting GO:0048672 9.51 BDNF NGF
18 positive regulation of non-membrane spanning protein tyrosine kinase activity GO:1903997 9.49 BDNF NTRK2
19 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 BDNF NGF NTRK1 NTRK2
20 mechanoreceptor differentiation GO:0042490 9.43 NTRK1 NTRK2
21 brain-derived neurotrophic factor receptor signaling pathway GO:0031547 9.37 BDNF NTRK2
22 neurotrophin signaling pathway GO:0038179 9.32 NTRK1 NTRK2
23 nerve growth factor signaling pathway GO:0038180 9.13 BDNF NGF NTRK1
24 neurotrophin TRK receptor signaling pathway GO:0048011 8.92 BDNF NGF NTRK1 NTRK2

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 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.32 NTRK1 NTRK2
2 neurotrophin binding GO:0043121 9.26 NTRK1 NTRK2
3 phosphorylase kinase regulator activity GO:0008607 9.16 ELP1 ELP3
4 neurotrophin receptor activity GO:0005030 8.96 NTRK1 NTRK2
5 RNA polymerase II complex binding GO:0000993 8.8 ELP1 ELP2 ELP3

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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