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HSAN3
MCID: NRP054
MIFTS: 66

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

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases
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Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 37
Familial Dysautonomia 12 73 25 20 43 53 58 72 36 29 6
Riley-Day Syndrome 57 12 73 25 43 53 58 72 15
Dysautonomia, Familial 57 20 13 44 70
Hsan Iii 57 12 25 72
Hsan3 57 43 58 72
Fd 20 43 72
Hereditary Sensory and Autonomic Neuropathy Type Iii 58 72
Hereditary Sensory and Autonomic Neuropathy 3 73 20
Dys 57 73
Neuropathy, Sensory and Autonomic, Hereditary, Type Iii 39
Hereditary Sensory and Autonomic Neuropathy Type 3 58
Hereditary Sensory Autonomic Neuropathy, Type Iii 25
Neuropathy, Hereditary Sensory and Autonomic, 3 72
Familial Autonomic Nervous Dysfunction 12
Hereditary Sensory Neuropathy Type 3 20
Dysautonomia, Familial; Dys; Fd 57
Dysautonomia Familial 54
Riley Day Syndrome 20
Hsan Type Iii 43
Hsn-Iii 43
Hsn Iii 72
Hsan 3 20
Hsn 3 20

Characteristics:

Orphanet epidemiological data:

58
familial dysautonomia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
neuropathy, hereditary sensory and autonomic, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Gastrointestinal diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Cardiovascular diseases Muscle diseases Smell/Taste diseases Oral diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases


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Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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MedlinePlus Genetics : 43 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.

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 autonomic neuropathy, and has symptoms including constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iii is ELP1 (Elongator Acetyltransferase Complex Subunit 1), and among its related pathways/superpathways are Chromatin organization and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Ipratropium and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and eye, and related phenotypes are hyperhidrosis and feeding difficulties in infancy

GARD : 20 Familial dysautonomia (FD) affects nerve cells in the autonomic nervous system, the part of the nervous system that controls involuntary functions like breathing and digestion. The symptoms of FD are present at birth and include difficulty swallowing, and poor control of blood pressure, body temperature and breathing. Other symptoms may include the inability to make tears or feel pain, vomiting episodes, frequent pneumonia, and difficulty walking. Over time, the symptoms of FD tend to get worse and are often life-threatening. FD is caused by genetic variations in the ELP1 gene, and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of genetic testing. Treatment is focused on managing the symptoms.

OMIM® : 57 Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). (223900) (Updated 20-May-2021)

NINDS : 53 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.

KEGG : 36 Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused by mutations of the IKAP gene that encodes a scaffolding unit ELP1 for a elongator complex.

UniProtKB/Swiss-Prot : 72 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 : 73 Familial dysautonomia (FD) is a rare, progressive, recessive genetic disorder of the autonomic nervous... more...

GeneReviews: NBK1180
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Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
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
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

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 336)
# Related Disease Score Top Affiliating Genes
1 insensitivity to pain, congenital, with anhidrosis 32.9 NTRK1 BDNF
2 autonomic neuropathy 30.3 NTRK1 NGF ELP1
3 adrenal gland pheochromocytoma 30.2 NGF BDNF
4 differentiating neuroblastoma 30.0 SMN1 ELP1 ASCL1
5 sensory peripheral neuropathy 30.0 NTRK1 NGF BDNF
6 alcohol dependence 29.9 NTRK2 NGF DBH BDNF
7 neuroblastoma 29.9 NTRK2 NTRK1 NGF DBH BDNF ASCL1
8 hereditary sensory neuropathy 29.7 PRICKLE4 NTRK2 NTRK1 NGF ELP6 ELP3
9 peripheral nervous system disease 29.6 SMN2 SMN1 POU4F1 NTRK2 NTRK1 NGF
10 amyotrophic lateral sclerosis 1 29.4 SMN2 SMN1 NTRK2 NTRK1 NGF ELP3
11 benign epilepsy with centrotemporal spikes 28.9 MCM5 ELP6 ELP5 ELP4 ELP3 ELP2
12 neuropathy, hereditary sensory and autonomic, type vi 11.1
13 neuropathy, hereditary sensory and autonomic, type iia 11.1
14 auditory neuropathy spectrum disorder 11.1
15 primary orthostatic hypotension 11.0
16 leukodystrophy 10.9
17 pycnodysostosis 10.9
18 deafness, autosomal recessive 59 10.9
19 multiple mitochondrial dysfunctions syndrome 5 10.9
20 malignant giant cell tumor of the tendon sheath 10.4 NTRK2 NTRK1
21 algoneurodystrophy 10.3 NGF DBH
22 neurogenic arthropathy 10.3 NTRK1 NGF
23 femoral cancer 10.3 NTRK1 NGF
24 myofascial pain syndrome 10.3 NGF BDNF
25 autonomic dysfunction 10.3
26 trigeminal neuralgia 10.3 NTRK1 NGF BDNF
27 cocaine abuse 10.3 NGF DBH BDNF
28 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.3 NTRK2 ELP4 BDNF
29 hypochondriasis 10.3 ELP6 BDNF
30 spinal muscular atrophy type 0 10.3 SMN2 SMN1
31 neurotic disorder 10.3 NGF BDNF
32 toxic encephalopathy 10.2 NTRK2 NGF BDNF
33 diabetic encephalopathy 10.2 NGF BDNF
34 spinal muscular atrophy, x-linked 2 10.2 SMN2 SMN1
35 neuropathy, hereditary sensory and autonomic, type v 10.2 NTRK1 NGF ELP1 BDNF
36 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.2 SMN2 SMN1
37 baroreflex failure 10.2
38 asperger syndrome 10.2 NTRK2 NGF BDNF
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
40 muscular dystrophy 10.2
41 central hypoventilation syndrome, congenital 10.2 NTRK2 DBH BDNF ASCL1
42 autonomic nervous system neoplasm 10.2 NTRK2 NTRK1 NGF BDNF
43 peripheral nervous system neoplasm 10.2 NTRK2 NTRK1 NGF BDNF
44 autosomal recessive disease 10.1
45 scoliosis 10.1
46 ocular dominance 10.1 NGF BDNF
47 muscular dystrophy, duchenne type 10.1
48 autosomal recessive distal hereditary motor neuronopathy 10.1 SMN2 SMN1
49 3-methylglutaconic aciduria, type iii 10.1
50 tooth size 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
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Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
3 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
4 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
5 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
6 malignant hyperthermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002047
7 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
8 abnormal pupil morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000615
9 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
10 alacrima 58 31 hallmark (90%) Very frequent (99-80%) HP:0000522
11 orthostatic hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0001278
12 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
13 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
16 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
17 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
18 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
19 hypotonia 31 frequent (33%) HP:0001252
20 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
21 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
22 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
23 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
24 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
25 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
26 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
27 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
28 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
29 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
30 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
31 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
32 tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001649
33 abnormality of the peritoneum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002585
34 seizure 31 occasional (7.5%) HP:0001250
35 abnormal pleura morphology 31 occasional (7.5%) HP:0002103
36 seizures 58 Occasional (29-5%)
37 emotional lability 31 HP:0000712
38 constipation 31 HP:0002019
39 muscular hypotonia 58 Frequent (79-30%)
40 vomiting 31 HP:0002013
41 abnormality of the pleura 58 Occasional (29-5%)
42 abnormality of the kidney 58 Occasional (29-5%)
43 peripheral neuropathy 58 Very frequent (99-80%)
44 corneal ulceration 31 HP:0012804
45 diarrhea 31 HP:0002014
46 generalized hypotonia 31 HP:0001290
47 recurrent fever 31 HP:0001954
48 neuropathic arthropathy 31 HP:0002821
49 decreased corneal reflex 31 HP:0008000
50 recurrent corneal erosions 31 HP:0000495

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
diarrhea
poor oral coordination
more
Neurologic Peripheral Nervous System:
hyporeflexia
incoordination
hypotonia
decreased taste
decreased pain and temperature perception
more
Skeletal:
neuropathic arthropathy

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

Metabolic Features:
fever, episodic

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

Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Skin Nails Hair Skin:
acrocyanosis
hyperhidrosis, episodic
erythematous skin blotching

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

Genitourinary Kidneys:
glomerulosclerosis
impaired renal function

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

Growth Other:
poor growth

Cardiovascular Vascular:
hypertension, episodic
postural hypotension without compensatory tachycardia

Clinical features from OMIM®:

223900 (Updated 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.7 ASCL1 BDNF ELP1 NGF NTRK1 POU4F1
2 normal MP:0002873 9.61 ASCL1 BDNF DBH KLF4 NGF NTRK1
3 vision/eye MP:0005391 9.28 ASCL1 BDNF DBH ELP1 KLF4 NGF
Sources

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

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ipratropium Approved, Experimental Phase 3 22254-24-6, 60205-81-4 43232 657309
2
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
3
Carbidopa Approved Phase 3 28860-95-9 34359
4 Respiratory System Agents Phase 3
5 Pharmaceutical Solutions Phase 3
6 Anti-Asthmatic Agents Phase 3
7 Cholinergic Agents Phase 3
8 Cholinergic Antagonists Phase 3
9 Adrenergic Agonists Phase 3
10 Adrenergic beta-Agonists Phase 3
11 Anticonvulsants Phase 3
12 Adrenergic Agents Phase 3
13 Bromides Phase 3
14 Tocolytic Agents Phase 3
15 Albuterol Phase 3
16 Bronchodilator Agents Phase 3
17 Dopamine Agents Phase 3
18 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
19 Antiparkinson Agents Phase 3
20
Norepinephrine Approved Phase 2 51-41-2 439260
21
Kinetin Approved Phase 1 525-79-1 3830

Interventional clinical trials:

(show all 11)
# 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 Carbidopa in Familial Dysautonomia: Phase-II Study, Investigational New Drug (IND) 117435, Date: 01/07/13 Completed NCT02553265 Phase 2 Carbidopa Low Dose;Carbidopa High Dose
4 The Nutritional Supplement Phosphatidylserine in Patients With Familial Completed NCT02276716 Phase 2
5 The Safety , Tolerability and Efficacy of Dronabinol, a Synthetic Endocannabinoid Receptor Agonist, for the Treatment of Nausea and Vomiting in Patients With Familial Dysautonomia Withdrawn NCT02608931 Phase 2 Dronabinol
6 The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia Completed NCT02274051 Phase 1
7 An Open-Label Pilot Trial of Cognitive Behavioral Therapy in Familial Dysautonomia Completed NCT03013777
8 Assessing the Outcomes of Web-based Pre-test Educational Module for Carrier Genetic Screening in Individuals of Ashkenazi Jewish Descent Completed NCT01999257
9 Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy Completed NCT02876939
10 Natural History of Familial Dysautonomia Recruiting NCT03920774
11 A Single-Blind Placebo-Controlled Telemedicine Clinical Trial for Cognitive Behavioral Therapy in Familial Dysautonomia Withdrawn NCT03911063

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

Cochrane evidence based reviews: dysautonomia, familial

Sources

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

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

# Genetic test Affiliating Genes
1 Familial Dysautonomia 29 ELP1
Sources

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

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

40
Kidney, Lung, Eye, Tongue, Heart, Thyroid, Brain
Sources

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

(show top 50) (show all 622)
# Title Authors PMID Year
1
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 25 6 57 54 61
11179008 2001
2
Familial dysautonomia is caused by mutations of the IKAP gene. 57 6 25 54 61
11179021 2001
3
Identification of the first non-Jewish mutation in familial Dysautonomia. 61 25 57 6
12687659 2003
4
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. 57 6 25 61
10090896 1999
5
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. 61 25 54 57
19693009 2009
6
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. 61 54 25 6
17206408 2007
7
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. 54 25 6 61
16964593 2007
8
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. 25 54 57 61
14709595 2004
9
Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. 61 6 25
23515154 2013
10
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. 6 25 61
12116234 2002
11
IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration. 6 61 54
18303054 2008
12
IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia. 54 61 6
18091349 2008
13
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. 57 61 54
17644305 2007
14
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. 61 54 57
14521957 2003
15
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. 57 61
30905397 2019
16
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. 6 61
29290691 2017
17
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. 57 61
26769677 2016
18
Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. 6 61
24173031 2013
19
Case scenario: perioperative administration of tocotrienols and green tea extract in a child with familial dysautonomia. 6 61
22850346 2012
20
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells. 6 61
22190446 2012
21
Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. 25 61 54
19033881 2009
22
Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia. 54 25 61
16125677 2005
23
Episodic somnolence in an infant with Riley-Day syndrome. 54 25 61
15797185 2005
24
Inherited autonomic neuropathies. 57 61
15088259 2003
25
Familial Dysautonomia 61 6
20301359 2003
26
Familial dysautonomia: a 47-year perspective. How technology confirms clinical acumen. 61 57
9546030 1998
27
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. 57 61
8599360 1995
28
Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. 61 57
8559751 1995
29
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. 57 61
8102296 1993
30
Incidence of familial dysautonomia in Israel 1977-1981. 61 57
3652488 1987
31
Neonatal recognition of familial dysautonomia. 57 61
3585611 1987
32
DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. 57 61
2886891 1986
33
Pulmonary manifestations of familial dysautonomia in an adult. 57 61
3963047 1986
34
Diagnosis of familial dysautonomia in the neonatal period. 57 61
3984717 1985
35
Structural gene for beta-nerve growth factor not defective in familial dysautonomia. 57 61
6330750 1984
36
The pupil cycle time in familial dysautonomia. Further evidence for denervation hypersensitivity. 57 61
6656621 1983
37
Familial dysautonomia: a prospective study of survival. 57 61
7097419 1982
38
Aseptic necrosis in familial dysautonomia. 61 57
7053554 1982
39
Progressive sensory loss in familial dysautonomia. 61 57
7254974 1981
40
Altered nerve growth factor in fibroblasts from patients with familial dysautonomia. 57 61
6244581 1980
41
Renal disease in familial dysautonomia. 57 61
7374014 1980
42
Pregnancy in familial dysautonomia. 61 57
717449 1978
43
Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. 61 57
731273 1978
44
Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. 61 57
624961 1978
45
Familial dysautonomia in a non-Jewish child. 61 57
920171 1977
46
Increased nerve-growth-factor beta-chain cross-reacting material in familial dysautonomia. 57 61
987530 1976
47
Deficient sympathetic nervous response in familial dysautonomia. 61 57
1246255 1976
48
The sural nerve in familial dysautonomia. 61 57
1176995 1975
49
The "chest-abdomen sign" in familial dysautonomia. 57 61
1109623 1975
50
Decreased noradrenaline (norepinephrine) synthesis in familial dysautonomia. 61 57
5129321 1971
Sources

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

6 (show top 50) (show all 430)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELP1 NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) SNV Pathogenic 568263 rs1564084140 GRCh37: 9:111659315-111659315
GRCh38: 9:108897035-108897035
2 ELP1 NM_003640.5(ELP1):c.349del (p.Trp117fs) Deletion Pathogenic 648167 rs1587924458 GRCh37: 9:111689688-111689688
GRCh38: 9:108927408-108927408
3 ELP1 NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter) SNV Pathogenic 664647 rs1587896788 GRCh37: 9:111663713-111663713
GRCh38: 9:108901433-108901433
4 ELP1 NM_003640.5(ELP1):c.2204+6T>C SNV Pathogenic 6085 rs111033171 GRCh37: 9:111662096-111662096
GRCh38: 9:108899816-108899816
5 ELP1 NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) SNV Pathogenic/Likely pathogenic 6086 rs137853022 GRCh37: 9:111662583-111662583
GRCh38: 9:108900303-108900303
6 ELP1 NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) SNV Likely pathogenic 6087 rs28939712 GRCh37: 9:111656342-111656342
GRCh38: 9:108894062-108894062
7 ELP1 NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) SNV Likely pathogenic 552235 rs926177767 GRCh37: 9:111693423-111693423
GRCh38: 9:108931143-108931143
8 ELP1 NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) Duplication Likely pathogenic 423215 rs767527819 GRCh37: 9:111659429-111659430
GRCh38: 9:108897149-108897150
9 ELP1 NC_000009.12:g.(?_108869105)_(108903679_?)del Deletion Likely pathogenic 656290 GRCh37: 9:111631385-111665959
GRCh38: 9:108869105-108903679
10 ELP1 NM_003640.5(ELP1):c.3572+1G>A SNV Likely pathogenic 651159 rs571348995 GRCh37: 9:111641725-111641725
GRCh38: 9:108879445-108879445
11 ELP1 NC_000009.12:g.(?_108869115)_(108901681_?)del Deletion Likely pathogenic 583918 GRCh37: 9:111631395-111663961
GRCh38: 9:108869115-108901681
12 ELP1 NM_003640.5(ELP1):c.97del (p.Val33fs) Deletion Likely pathogenic 555432 rs1554703851 GRCh37: 9:111693330-111693330
GRCh38: 9:108931050-108931050
13 ELP1 NM_003640.5(ELP1):c.2014+1G>A SNV Likely pathogenic 556440 rs1554696574 GRCh37: 9:111663704-111663704
GRCh38: 9:108901424-108901424
14 ELP1 NM_003640.5(ELP1):c.1461-1G>A SNV Likely pathogenic 556902 rs539544212 GRCh37: 9:111668766-111668766
GRCh38: 9:108906486-108906486
15 ELP1 NM_003640.5(ELP1):c.552+1G>T SNV Likely pathogenic 557099 rs765572951 GRCh37: 9:111685121-111685121
GRCh38: 9:108922841-108922841
16 ELP1 NM_003640.5(ELP1):c.147_150+1dup Duplication Likely pathogenic 557337 rs1319053366 GRCh37: 9:111693275-111693276
GRCh38: 9:108930995-108930996
17 ELP1 NM_003640.5(ELP1):c.1750+1G>T SNV Likely pathogenic 557775 rs770668926 GRCh37: 9:111665842-111665842
GRCh38: 9:108903562-108903562
18 ELP1 NM_003640.5(ELP1):c.385+1G>A SNV Likely pathogenic 558252 rs1554703061 GRCh37: 9:111689651-111689651
GRCh38: 9:108927371-108927371
19 ELP1 NM_003640.5(ELP1):c.151-1G>T SNV Likely pathogenic 558396 rs1554703613 GRCh37: 9:111692202-111692202
GRCh38: 9:108929922-108929922
20 ELP1 NM_003640.5(ELP1):c.1854+1G>A SNV Likely pathogenic 558407 rs1554696934 GRCh37: 9:111665118-111665118
GRCh38: 9:108902838-108902838
21 ELP1 NM_003640.5(ELP1):c.1751-2A>T SNV Likely pathogenic 558541 rs1554697001 GRCh37: 9:111665224-111665224
GRCh38: 9:108902944-108902944
22 ELP1 NM_003640.5(ELP1):c.2204+1G>A SNV Likely pathogenic 371309 rs1057517169 GRCh37: 9:111662101-111662101
GRCh38: 9:108899821-108899821
23 ELP1 NM_003640.5(ELP1):c.2860+2T>C SNV Likely pathogenic 370227 rs754348901 GRCh37: 9:111656221-111656221
GRCh38: 9:108893941-108893941
24 ELP1 NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) SNV Likely pathogenic 370257 rs749052963 GRCh37: 9:111656266-111656266
GRCh38: 9:108893986-108893986
25 ELP1 NM_003640.5(ELP1):c.2158del (p.His720fs) Deletion Likely pathogenic 370915 rs1057516865 GRCh37: 9:111662148-111662148
GRCh38: 9:108899868-108899868
26 ELP1 NM_003640.5(ELP1):c.2076dup (p.Arg693fs) Duplication Likely pathogenic 370735 rs763445509 GRCh37: 9:111662593-111662594
GRCh38: 9:108900313-108900314
27 ELP1 NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) Duplication Likely pathogenic 496211 rs781333644 GRCh37: 9:111640959-111640960
GRCh38: 9:108878679-108878680
28 ELP1 NM_003640.5(ELP1):c.3285+2T>C SNV Likely pathogenic 526195 rs1554692181 GRCh37: 9:111644403-111644403
GRCh38: 9:108882123-108882123
29 ELP1 NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) Deletion Likely pathogenic 552191 rs1554698037 GRCh37: 9:111668756-111668757
GRCh38: 9:108906476-108906477
30 ELP1 NM_003640.5(ELP1):c.1461-1G>T SNV Likely pathogenic 552194 rs539544212 GRCh37: 9:111668766-111668766
GRCh38: 9:108906486-108906486
31 ELP1 NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) SNV Likely pathogenic 552197 rs868073099 GRCh37: 9:111693348-111693348
GRCh38: 9:108931068-108931068
32 ELP1 NM_003640.5(ELP1):c.304-2A>G SNV Likely pathogenic 552242 rs757972943 GRCh37: 9:111689735-111689735
GRCh38: 9:108927455-108927455
33 ELP1 NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) Deletion Likely pathogenic 552243 rs774890086 GRCh37: 9:111674579-111674579
GRCh38: 9:108912299-108912299
34 ELP1 NM_003640.5(ELP1):c.1189+1G>A SNV Likely pathogenic 552244 rs1554699327 GRCh37: 9:111674543-111674543
GRCh38: 9:108912263-108912263
35 ELP1 NM_003640.5(ELP1):c.1A>T (p.Met1Leu) SNV Likely pathogenic 552267 rs1554703907 GRCh37: 9:111693426-111693426
GRCh38: 9:108931146-108931146
36 ELP1 NM_003640.5(ELP1):c.2205-1G>C SNV Likely pathogenic 552270 rs1554695846 GRCh37: 9:111661030-111661030
GRCh38: 9:108898750-108898750
37 ELP1 NM_003640.5(ELP1):c.1908+2T>A SNV Likely pathogenic 552274 rs1554696648 GRCh37: 9:111663906-111663906
GRCh38: 9:108901626-108901626
38 ELP1 NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) Deletion Likely pathogenic 552275 rs1554696650 GRCh37: 9:111663913-111663914
GRCh38: 9:108901633-108901634
39 ELP1 NM_003640.5(ELP1):c.2587+2T>G SNV Likely pathogenic 552276 rs1554695299 GRCh37: 9:111659231-111659231
GRCh38: 9:108896951-108896951
40 ELP1 NM_003640.5(ELP1):c.2958+1G>C SNV Likely pathogenic 552277 rs1239081703 GRCh37: 9:111655265-111655265
GRCh38: 9:108892985-108892985
41 ELP1 NM_003640.5(ELP1):c.3701-1G>A SNV Likely pathogenic 552298 rs1554691572 GRCh37: 9:111640430-111640430
GRCh38: 9:108878150-108878150
42 ELP1 NM_003640.5(ELP1):c.552+2T>A SNV Likely pathogenic 552684 rs1554702142 GRCh37: 9:111685120-111685120
GRCh38: 9:108922840-108922840
43 ELP1 NM_003640.5(ELP1):c.151-1G>A SNV Likely pathogenic 552705 rs1554703613 GRCh37: 9:111692202-111692202
GRCh38: 9:108929922-108929922
44 ELP1 NM_003640.5(ELP1):c.1461-2A>G SNV Likely pathogenic 498695 rs866046915 GRCh37: 9:111668767-111668767
GRCh38: 9:108906487-108906487
45 ELP1 NM_003640.5(ELP1):c.386-2A>C SNV Likely pathogenic 552783 rs1554702880 GRCh37: 9:111688885-111688885
GRCh38: 9:108926605-108926605
46 ELP1 NM_003640.5(ELP1):c.1360+1G>T SNV Likely pathogenic 553041 rs1201626345 GRCh37: 9:111673289-111673289
GRCh38: 9:108911009-108911009
47 ELP1 NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) SNV Likely pathogenic 553107 rs376078668 GRCh37: 9:111641011-111641011
GRCh38: 9:108878731-108878731
48 ELP1 NM_003640.5(ELP1):c.641del (p.Pro214fs) Deletion Likely pathogenic 553108 rs759412460 GRCh37: 9:111681541-111681541
GRCh38: 9:108919261-108919261
49 ELP1 NM_003640.5(ELP1):c.3931+1G>T SNV Likely pathogenic 551259 rs143674809 GRCh37: 9:111637174-111637174
GRCh38: 9:108874894-108874894
50 ELP1 NM_003640.5(ELP1):c.54del (p.Asn20fs) Deletion Likely pathogenic 552308 rs1554703874 GRCh37: 9:111693373-111693373
GRCh38: 9:108931093-108931093

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

72
# Symbol AA change Variation ID SNP ID
1 ELP1 p.Arg696Pro VAR_011327 rs137853022

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Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

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

# Super pathways Score Top Affiliating Genes
1
Chromatin organization 65
Show member pathways
 12.69 ELP6 ELP5 ELP4 ELP3 ELP2 ELP1
2
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.29 NTRK2 NTRK1 NGF BDNF
3
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.83 NTRK2 NGF BDNF ASCL1
4
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
11.72 NTRK2 NTRK1 NGF BDNF
5
Guidance Cues and Growth Cone Motility 63
11.52 NTRK2 NTRK1 NGF BDNF
6
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.48 NGF BDNF ASCL1
7
G-protein signaling_RhoA regulation pathway 23
11.47 NTRK2 NTRK1 NGF BDNF
8
Neurotrophic factor-mediated Trk receptor signaling 1
Show member pathways
 11.04 NTRK2 NTRK1 NGF BDNF
9
ERK Pathway in Huntingtons Disease 1
10.6 NTRK2 BDNF
10
Activation of TRKA receptors 65
Show member pathways
 9.84 NTRK2 NTRK1 NGF
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GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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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 10.03 SMN2 SMN1 POU4F1 NTRK2 NTRK1 MCM5
2 axon GO:0030424 9.43 SMN2 SMN1 NTRK2 NTRK1 NGF BDNF
3 SMN-Sm protein complex GO:0034719 9.37 SMN2 SMN1
4 Gemini of coiled bodies GO:0097504 9.32 SMN2 SMN1
5 SMN complex GO:0032797 9.26 SMN2 SMN1
6 Elongator holoenzyme complex GO:0033588 9.1 ELP6 ELP5 ELP4 ELP3 ELP2 ELP1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.86 SMN2 SMN1 POU4F1 NTRK2 NTRK1 ELP3
2 neuron migration GO:0001764 9.77 NTRK2 ELP3 ASCL1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.76 NTRK2 NTRK1 NGF BDNF
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.75 NTRK2 NGF BDNF
5 memory GO:0007613 9.72 NGF DBH BDNF
6 negative regulation of neuron apoptotic process GO:0043524 9.72 POU4F1 NTRK2 NTRK1 NGF BDNF
7 positive regulation of synapse assembly GO:0051965 9.69 NTRK2 NTRK1 BDNF
8 innervation GO:0060384 9.62 POU4F1 NTRK1
9 central nervous system neuron development GO:0021954 9.62 NTRK2 ASCL1
10 regulation of protein kinase B signaling GO:0051896 9.61 NTRK2 NTRK1
11 neuron fate specification GO:0048665 9.61 POU4F1 ASCL1
12 sympathetic nervous system development GO:0048485 9.59 NTRK1 ASCL1
13 nerve development GO:0021675 9.58 NGF BDNF
14 peripheral nervous system neuron development GO:0048935 9.57 POU4F1 NTRK2
15 DNA-templated transcription, termination GO:0006353 9.56 SMN2 SMN1
16 positive regulation of collateral sprouting GO:0048672 9.54 NGF BDNF
17 nerve growth factor signaling pathway GO:0038180 9.54 NTRK1 NGF BDNF
18 positive regulation of non-membrane spanning protein tyrosine kinase activity GO:1903997 9.52 NTRK2 BDNF
19 tRNA processing GO:0008033 9.5 ELP6 ELP5 ELP4 ELP3 ELP2 ELP1
20 mechanoreceptor differentiation GO:0042490 9.49 NTRK2 NTRK1
21 brain-derived neurotrophic factor receptor signaling pathway GO:0031547 9.48 NTRK2 BDNF
22 neurotrophin TRK receptor signaling pathway GO:0048011 9.46 NTRK2 NTRK1 NGF BDNF
23 neurotrophin signaling pathway GO:0038179 9.43 NTRK2 NTRK1
24 tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation GO:0002926 9.4 ELP3 ELP1
25 tRNA wobble uridine modification GO:0002098 9.17 ELP6 ELP5 ELP4 ELP3 ELP2 ELP1

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 nerve growth factor receptor binding GO:0005163 9.32 NGF BDNF
2 neurotrophin binding GO:0043121 9.26 NTRK2 NTRK1
3 phosphorylase kinase regulator activity GO:0008607 9.16 ELP4 ELP3
4 neurotrophin receptor activity GO:0005030 8.96 NTRK2 NTRK1
5 tRNA binding GO:0000049 8.92 ELP5 ELP3 ELP1 CTU1
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Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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