Neuropathy, Hereditary Sensory and Autonomic, Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Muscle diseases Nephrological diseases Cardiovascular diseases Gastrointestinal diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Diseases of the nervous system

Other disorders of the nervous system

Disorders of autonomic nervous system

Familial dysautonomia [Riley-Day]

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:11589

OMIM ⁵⁸ 223900

KEGG ³⁸ H01987

MeSH ⁴⁵ D004402

NCIt ⁵¹ C84706

SNOMED-CT ⁶⁹ 29159009

ICD10 ³⁴ G90.1

MESH via Orphanet ⁴⁶ D004402

ICD10 via Orphanet ³⁵ G90.1

UMLS via Orphanet ⁷⁵ C0013364

Orphanet ⁶⁰ ORPHA1764

MedGen ⁴³ C0013364

SNOMED-CT via HPO ⁷⁰ 103254005 111266001 12068006 more

UMLS ⁷⁴ C0013364

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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

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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:

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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

Sources

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

Ipratropium

Approved, Experimental

Phase 3

22254-24-6, 60205-81-4

657309 43232

Synonyms:

(+-)-Ipratropine

(3-endo,8-syn)-3-(3-Hydroxy-1-oxo-2-phenylpropoxy)-8-methyl-8-(1-methylethyl)-8-azoniabicyclo(3.2.1)octane

(3-endo,8-syn)-3-[(3-hydroxy-2-phenylpropanoyl)oxy]-8-isopropyl-8-methyl-8-azoniabicyclo[3.2.1]octane

(8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl) 3-hydroxy-2-phenylpropanoate

(endo,Syn)-(+-)-3-(3-hydroxy-1-oxo-2-phenylpropoxy)-8-methyl-8-(1-methylethyl)-8-azoniabicyclo(3.2.1)octane

(endo,Syn)-(+-)-3-(3-hydroxy-1-oxo-2-phenylpropoxy)-8-methyl-8-(1-methylethyl)-8-azoniabicyclo[3.2.1]octane bromide

[(1R,5R)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

[(1R,5S)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] (2R)-3-hydroxy-2-phenylpropanoate

[(1R,5S)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

[(5R)-8-methyl-8-propan-2-yl-8-azoniabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

22254-24-6 (bromide)

3-[(3-hydroxy-2-phenylpropanoyl)oxy]-8-methyl-8-(propan-2-yl)-8-azoniabicyclo[3.2.1]octane

3a-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropate

3a-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropic acid

3alpha-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropate

3alpha-Hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropic acid

3Α-hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropate

3Α-hydroxy-8-isopropyl-1alphah,5alphah-tropanium bromide (+-)-tropic acid

60205-81-4

8-Isopropylnoratropine methobromide

AB00513864

AC1L1GMB

AC1L29FR

AC1LCWC1

AC1NWANU

AC1O7GEJ

AC1Q6241

Aerodose

Aerovent

Anhydrous, ipratropium bromide

Apo-Ipravent

Apovent

AR-1F0540

Atronase

Atrovent

Atrovent Aerosol

Atrovent Hfa

Atrovent Nasal

BIDD:GT0659

Bitrop

BPBio1_000430

BRD-A05352148-004-02-0

BRD-A07029265-004-02-9

BRD-A37432947-004-02-5

Bromide anhydrous, ipratropium

Bromide monohydrate, ipratropium

Bromure d'ipratropium

bromuro de ipratropio

Bromuro de ipratropio

BSPBio_000390

BSPBio_002202

C07052

CAS-22254-24-6

CHEBI:5956

CID3746

CID43232

CID5702074

CID657309

CID6604365

CPD001906775

DB00332

Disne-Asmol

DivK1c_000201

HMS2089K19

IDI1_000201

Ipatropium bromide

Ipatropium Bromide

Ipratropii bromidum

ipratropium

Ipratropium

ipratropium bromide

Ipratropium bromide (anhydrous)

Ipratropium bromide anhydrous

Ipratropium bromide monohydrate

Ipratropium bromide, (endo,anti)-isomer

Ipratropium bromide, (exo,syn)-isomer

Ipratropium bromide, endo-isomer

Ipratropium cation

Ipratropium ion

Ipratropiumbromid

Ipravent

Ipvent

Itrop

KBio1_000201

KBio2_001283

KBio2_003851

KBio2_006419

KBio3_001422

KBioGR_000421

KBioSS_001283

Kendral-Ipratropium

L000784

LS-182152

LS-187321

LS-187697

MolPort-006-830-024

Monohydrate, ipratropium bromide

N Isopropylatropine

Narilet

NCGC00016761-01

NCGC00018212-01

NCGC00024735-01

NCGC00163226-01

NCGC00178765-01

NCGC00179574-01

NINDS_000201

N-Isopropylatropine

N-Isopropylnoratropinium bromomethylate

N-Isopropylnoratropinium bromomethylic acid

Prestwick0_000575

Prestwick1_000575

Prestwick2_000575

Prestwick3_000575

Rhinotrop

Rhinovent

Rinatec

Rinoberen

Rinovagos

SAM002564215

SPBio_001270

SPBio_002609

Spectrum_000803

Spectrum2_001275

Spectrum3_000471

Spectrum4_000021

Spectrum5_000874

Tocris-0692

UNII-GR88G0I6UL

Vagos

X8M

ZINC13782937

ZINC13907155

Carbidopa

Approved

Phase 3,Phase 2

28860-95-9

34359

Synonyms:

(-)-L-a-hydrazino-3,4-Dihydroxy-a-methylhydrocinnamate

(-)-L-a-hydrazino-3,4-Dihydroxy-a-methylhydrocinnamic acid

(-)-L-alpha-hydrazino-3,4-Dihydroxy-alpha-methylhydrocinnamate

(-)-L-alpha-hydrazino-3,4-Dihydroxy-alpha-methylhydrocinnamic acid

(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid

(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate

(-)-L-α-hydrazino-3,4-dihydroxy-α-methylhydrocinnamate

(-)-L-α-hydrazino-3,4-dihydroxy-α-methylhydrocinnamic acid

(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid

(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid

(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate

(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate

(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)

(AlphaS)-a-hydrazino-3,4-dihydroxy-a-methylbenzenepropanoate

(AlphaS)-a-hydrazino-3,4-dihydroxy-a-methylbenzenepropanoic acid

(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoate

(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid

(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid

(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate

(AlphaS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoate

(AlphaS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoic acid

(S)-(-)-carbidopa

(S)-(−)-carbidopa

(S)-(-)-Carbidopa

(S)-(-)-carbidopa hydrate

(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate

(S)-carbidopa

(S)-Carbidopa

(S)-carbidopa hydrate

(αS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoic acid

27925-91-3

28860-95-9

31823-41-3

38821-49-7

AC-1676

AC1L1RFR

AC1L1Z32

AC1Q5QGW

alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid

alpha-Methyldopahydrazine

Atamet

BB_SC-5095

Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)

C-126

C126_SIGMA

C1335_SIGMA

carbidopa

Carbidopa

Carbidopa (anhydrous)

Carbidopa [USAN:INN:BAN]

Carbidopa anhydrous

Carbidopa hydrate

Carbidopa Monohydrate

Carbidopa, (R)-isomer

Carbidopa, (S)-isomer

Carbidopa, (S)-Isomer

Carbidopa, Entacapone, & Levodopa

Carbidopa-1-wasser

Carbidopum

Carbidopum [INN-Latin]

carbidopum monohydricum

CCRIS 5093

C-DOPA

CHEBI:3395

CHEBI:39585

CHEMBL1200748

CHEMBL1201236

CID34359

CID38101

CPD-11550

DB00190

EINECS 249-271-9

EU-0100382

Hadrazino-alpha-methyldopa

HMS2089B12

Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate

KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID

L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionate

L-3-(3,4-dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid

L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid

L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate

L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid

L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid

L-alpha-Methyldopahydrazine

L-a-Methyldopahydrazine

Lodosin

Lodosyn

Lodosyn, Carbidopa

Lopac0_000382

LS-77199

L-α-methyldopahydrazine

Methyldopahydrazine

MK 486

MK-485

MK-486

MLS000069628

MLS002207014

MolPort-003-940-629

MolPort-005-934-181

N-Aminomethyldopa

NCGC00024596-01

NCGC00024596-03

NCGC00024596-05

NCGC00024596-06

S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid

S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate

S-(-)-Carbidopa

S(-)-CARBIDOPA

S1891_Selleck

SMP1_000057

SMR000058235

ST055523

Stalevo

Tocris-0455

UNII-KR87B45RGH

UNII-MNX7R8C5VO

Dopamine

Approved

Phase 3,Phase 2

62-31-7, 51-61-6

681

Synonyms:

(3H)-Dopamine

.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane

.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride

1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)

1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride

1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium

153C5321-5FEE-4B0B-8925-F388F0EEEBD1

2-(3,4-dihydroxyphenyl)ethylamine

2-(3,4-Dihydroxyphenyl)ethylamine

2-benzenediol

3,4 Dihydroxyphenethylamine

3,4-dihydroxyphenethylamine

3,4-Dihydroxyphenethylamine

3,4-Dihydroxyphenethylamine hydrochloride

3,4-Dihydroxyphenylethylamine

3-Hydroxtyramine

3-Hydroxytyramine

3-Hydroxytyramine Hydrobromide

3-Hydroxytyramine hydrochloride

4-(2-Aminoethyl)-1,

4-(2-aminoethyl)-1,2-benzenediol

4-(2-Aminoethyl)-1,2-benzenediol

4-(2-Aminoethyl)-1,2-bezenediol

4-(2-Aminoethyl)benzene-1,2-diol

4-(2-aminoethyl)catechol

4-(2-Aminoethyl)catechol

4-(2-aminoethyl)pyrocatechol

4-(2-aminoethyl)-pyrocatechol

4-(2-Aminoethyl)pyrocatechol

4-(2-Aminoethyl)-pyrocatechol

4-(2-Aminoethyl)pyrocatechol hydrochloride

50444-17-2

51-61-6

62-31-7 (HYDROCHLORIDE)

a-(3,4-Dihydroxyphenyl)-b-aminoethane

AC1L19S5

AC1Q54AX

AC1Q54AY

AKOS003790978

alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane

ASL 279

BIDD:ER0506

Biomol-NT_000001

BPBio1_001123

BSPBio_001932

C03758

CHEBI:18243

CHEMBL59

CID681

cMAP_000036

cMAP_000065

D07870

DB00988

Deoxyepinephrine

DivK1c_000780

Dopamin

Dopamina

Dopamina [INN-Spanish]

dopamine

Dopamine

Dopamine (INN)

Dopamine (USAN)(*hydrochloride*)

Dopamine [INN:BAN]

Dopamine hydrochloride

Dopaminum

Dopaminum [INN-Latin]

Dopastat

Dophamine

Dynatra

EINECS 200-110-0

HSDB 3068

Hydrochloride, dopamine

Hydroxytyramin

hydroxytyramine

Hydroxytyramine

IDI1_000780

intropin

Intropin

Intropin [*hydrochloride*]

IP 498

KBio1_000780

KBio2_001492

KBio2_002388

KBio2_002484

KBio2_004060

KBio2_004956

KBio2_005052

KBio2_006628

KBio2_007524

KBio2_007620

KBio3_001152

KBio3_002867

KBio3_002962

KBioGR_001129

KBioGR_002388

KBioGR_002484

KBioSS_001492

KBioSS_002393

KBioSS_002491

KW-3-060

L000232

L-DOPAMINE

LDP

Lopac0_000586

Lopac-H-8502

LS-159

Medopa (TN)

m-Hydroxytyramine hydrochloride

MolPort-001-641-000

NCGC00015519-01

NCGC00015519-08

NCGC00096050-01

NCGC00096050-02

NCGC00096050-03

NCGC00096050-04

NCGC00096050-05

nchembio.105-comp9

nchembio.107-comp4

nchembio.284-comp1

nchembio.78-comp16

nchembio.89-comp3

nchembio705-8

nchembio801-comp8

NINDS_000780

NSC 173182

NSC169105

NSC173182

Oprea1_088821

Oxytyramine

Pyrocatechol, 4-(2-aminoethyl)- (8CI)

Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride

Revimine

Revivan

SPBio_001205

Spectrum_001012

SPECTRUM1505155

Spectrum2_001023

Spectrum3_000406

Spectrum4_000525

Spectrum5_000945

ST048774

STK301601

UNII-VTD58H1Z2X

UPCMLD0ENAT5885989:001

Anti-Asthmatic Agents

Phase 3

Autonomic Agents

Phase 3

Bromides

Phase 3

Adrenergic Agonists

Phase 3

Adrenergic Agents

Phase 3

Adrenergic beta-2 Receptor Agonists

Phase 3

Tocolytic Agents

Phase 3

Bronchodilator Agents

Phase 3

Respiratory System Agents

Phase 3

Neurotransmitter Agents

Phase 3,Phase 2

Cholinergic Agents

Phase 3

Cholinergic Antagonists

Phase 3

Peripheral Nervous System Agents

Phase 3,Phase 2

Albuterol

Phase 3

Anticonvulsants

Phase 3

Pharmaceutical Solutions

Phase 3

Adrenergic beta-Agonists

Phase 3

Dopamine Agents

Phase 3,Phase 2

Aromatic Amino Acid Decarboxylase Inhibitors

Phase 3,Phase 2

Antiparkinson Agents

Phase 3,Phase 2

Kinetin

Approved

Phase 2

525-79-1

3830

Synonyms:

6 Furfuryladenine

6 Furfurylaminopurine

6-(furfurylamino)Purine

6-[(Furan-2-ylmethyl)amino]-9H-purine

6-Furfuryladenine

6-Furfurylaminopurine

Furan-2-ylmethyl-(9H-purin-6-yl)-amin

Furfuryl(purin-6-yl)amine

N-(2-Furanylmethyl)-1H-purin-6-amine

N-(2-Furylmethyl)-1H-purin-6-amine

N-(2-Furylmethyl)-9H-purin-6-amine

N-(2-Furylmethyl)-N-(9H-purin-6-yl)amine

N(6)-(furfurylamino)Purine

N(6)-Furfuryladenine

N-1H-Purin-6-yl-2-furanmethanamine

N6-(furfurylamino)Purine

N6-Furfuryladenine

N-Furfuryladenine

N-Furfuryl-adenine

Dronabinol

Approved, Illicit

Phase 2

1972-08-3

16078

Synonyms:

&Delta

(-)- delta 9-Tetrahydrocannabinol

(-)-.delta.(sup9)-trans-Tetrahydrocannabinol

(-)-.DELTA.1-Tetrahydrocannabinol

(-)-.DELTA.9-Tetrahydrocannabinol

(-)-.DELTA.9-THC

(-)-.DELTA.9-trans-Tetrahydrocannabinol

(-)-3,4-trans-Delta1-Tetrahydrocannabinol

(-)-delta 1-Tetrahydrocannabinol

(-)-delta 9-THC

(-)-delta 9-trans-Tetrahydrocannabinol

(-)-delta(sup 1)-3,4-trans-Tetrahydrocannabinol

(-)-delta1-Tetrahydrocannabinol

(-)-delta9-(trans)-Tetrahydrocannabinol

(-)-delta9-Tetrahydrocannabinol

(-)-delta9-trans-Tetrahydrocannabinol

(-)-trans-.DELTA.9-Tetrahydrocannabinol

(-)-trans-delta 1-Tetrahydrocannabinol

(-)-trans-delta 9-Tetrahydrocannabinol

(-)-trans-delta 9-THC

(-)-trans-Delta1-Tetrahydrocannabinol

(-)-trans-delta9-Tetrahydrocannabinol

(-)-trans-Delta9-THC

(-)-Δ9-trans-tetrahydrocannabinol

(L)-.delta.1-Tetrahydrocannabinol

(L)-delta 1-Tetrahydrocannabinol

(l)-delta(sup 1)-Tetrahydrocannabinol

(l)-delta1-Tetrahydrocannabinol

.delta.(sup9)-THC

.DELTA.1-Tetrahydrocannabinol

.DELTA.1-THC

.delta.-9-THC

.DELTA.9-THC

.DELTA.9-trans-Tetrahydrocannabinol

1363-19-5

14146-29-3

14146-43-1

14C-.DELTA.1-Tetrahydrocannabinol

14C-delta 1-Tetrahydrocannabinol

1972-08-3

1-trans-.delta.(sup9)-tetrahydrocannabinol

1-trans-D9-Tetrahydrocannabinol

1-trans-delta 9-Tetrahydrocannabinol

1-trans-delta(sup 9)-Tetrahydrocannabinol

1-trans-delta(sup9)-tetrahydrocannabinol

1-trans-delta9-Tetrahydrocannabinol

1-trans-delta-9-Tetrahydrocannabinol

1-trans-Δ-9-tetrahydrocannabinol

26108-45-2

308064-99-5

3-Pentyl-6,6,9-trimethyl-6a,7,8,10a-tetrahydro-6H-dibenzo(b,d)pyran-1-ol

3-Pentyl-6,6,9-trimethyl-6a,7,8,10a-tetrahydro-6H-dibenzo(b,D)pyran-1-ol

5957-27-7

6,6,9-Trimethyl-3-pentyl-6a,7,8,10a-tetrahydro-6H-benzo[c]chromen-1-ol

6465-30-1

6H-Dibenzo

9 Ene tetrahydrocannabinol

9-delta-Tetrahydrocannabinol

9-ene-Tetrahydrocannabinol

9-Ene-tetrahydrocannabinol

9-tetrahydrocannabinol

9-THC

Abbott 40566

AC1L277U

AC1Q2VRZ

BIDD:GT0427

C06972

Cannabinol, Delta1-tetrahydro- (7CI)

Cannabinol, tetrahydro- (6CI)

Cannabis resin

CAT-310

CCRIS 4726

CHEBI:104496

CHEMBL465

CID16078

Compassia

D00306

DB00470

Dea No. 7369

DEA No. 7369

Dea No. 7370

DEA No. 7370

delta 1-Tetrahydrocannabinol

delta 1-THC

delta 9-Tetrahydrocannabinol

delta 9-THC

delta 9-trans-Tetrahydrocannabinol

delta(1)-tetrahydrocannabinol

delta(1)-Tetrahydrocannabinol

Delta(1)-Tetrahydrocannabinol

delta(1)-THC

delta(9)-Tetrahydrocannabinol

delta(9)-Tetrahydrocannibinol

delta(9)-THC

Delta(9)-THC

delta(sup 1)-Tetrahydrocannabinol

delta(sup 1)-Thc

delta(sup 9)-Tetrahydrocannabinol

delta(sup 9)-Thc

delta1-Tetrahydrocannabinol

delta1-Tetrahydrocannabinol (VAN)

delta1-THC

delta9-tetrahydrocannabinol

delta-9-tetrahydrocannabinol

delta9-Tetrahydrocannabinol

DELTA-9-TETRAHYDROCANNABINOL

delta9-Tetrahydrocannabinol (VAN)

Delta9-Tetrahydrocannabinol solution

delta9-THC

delta-9-THC

DELTA-9-THC

delta9-trans-Tetrahydrocannabinol

Deltanyne

delta-THC

DRG-0138

Drona binol

Dronabinol

Dronabinol (USP/INN)

Dronabinol [Usan:Inn]

Dronabinol [USAN:INN]

Dronabinolum

Dronabinolum [Latin]

EPA 28

EPA-PLUS

Exocyclic delta (9)(11)-tetrahydrocannabiol

Fats and Glyceridic oils, fish, n-3 fatty acid-high

Fish oils, n-3 fatty acid-high

Fish oils, omega-3 fatty acid-high

Ganja

Hashish

HSDB 6471

L-.delta.1-Tetrahydrocannabinol

L-.delta.1-trans-Tetrahydrocannabinol

L-delta 1-trans-Tetrahydrocannabinol

L-delta(sup 1)-tetrahydrocannabinol

L-delta1-trans-Tetrahydrocannabinol

LS-975

L-trans-.delta.9-Tetrahydrocannabinol

L-trans-delta 9-Tetrahydrocannabinol

L-trans-delta9-Tetrahydrocannabinol

Marincap

Marinol

Marinol (TN)

MaxEPA

MolPort-003-959-698

Namisol

nchembio.129-comp1

nchembio.552-comp1

nchembio.86-comp3

NSC 134454

NSC134454

omega-3-Fatty acid

Omegaven

PDSP2_000714

Primolut

Promega

Pro-Mega

QCD 84924

QCD-84924

Relivar

Solvay brand OF tetrahydrocannabinol

Sonergx

SP 104

Syndros

T2386_SIGMA

T4764_FLUKA

T4764_SIGMA

Tetrahydrocannabinol

TETRAHYDROCANNABINOL

Tetrahydrocannabinol delta9

Tetrahydrocannabinol, (6ar-cis)-isomer

Tetrahydrocannabinol, (6as-cis)-isomer

Tetrahydrocannabinol, (6a-trans)-isomer

Tetrahydrocannabinol, trans isomer

Tetrahydrocannabinol, trans-(+-)-isomer

Tetrahydrocannabinol, trans-isomer

Tetrahydrocannabinols (-)-delta1-3,4-trans-form

Tetranabinex

THC

THC-delta-9

trans-.DELTA.9-Tetrahydrocannabinol

trans-delta (-)-9-Tetrahydrocannabinol

trans-delta 9-Tetrahydrocannabinol

trans-delta9-Tetrahydrocannabinol

trans-delta-9-Tetrahydrocannabinol

trans-tetrahydrocannabinol

UNII-7J8897W37S

ZINC01530625

Δ(1)-tetrahydrocannabinol

Δ(9)-THC

Δ9-tetrahydrocannabinol

Δ-9-tetrahydrocannabinol

Δ-9-THC

Norepinephrine

Approved

Phase 2

51-41-2

439260

Synonyms:

(-)-(R)-Norepinephrine

(-)-alpha-(Aminomethyl)protocatechuyl alcohol

(−)-arterenol

(-)-Arterenol

(-)-Arterenol free base

(−)-noradrenaline

(-)-Noradrenaline

(-)-NORADRENALINE

(−)-norepinephrine

(-)-Norepinephrine

(R)-(−)-norepinephrine

(R)-(-)-Norepinephrine

(R)-4-(2-amino-1-hydroxyethyl)-1,2-benzenediol

(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol

(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol

(R)-noradrenaline

(R)-Noradrenaline

(R)-norepinephrine

(R)-Norepinephrine

1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)

4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol

4-[(1R)-2-amino-1-Hydroxyethyl]-1,2-benzenediol

4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol

4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol

4899-05-2

51-40-1 (l-tartrate (1:1))

51-41-2

66197-73-7

A7257_SIGMA

Abbott brand OF levophed bitartrate

AC1L96ZT

Adrenor

Aktamin

ALBB-006229

Arterenol

Aventis brand OF norepinephrine hydrochloride

Bitartrate, levophed

Bitartrate, noradrenaline

Bitartrate, norepinephrine

bmse000404

BRN 4231961

BSPBio_002079

C00547

CHEBI:18357

CHEMBL1437

CID439260

D-(-)-Noradrenaline

D00076

D53D5E3A-2360-4CA9-8031-6C2CD4062FD5

DB00368

DivK1c_000230

EINECS 200-096-6

HMS1920B08

HMS2089E18

HMS2091J08

HMS500L12

Hydrochloride, norepinephrine

IDI1_000230

KBio1_000230

KBio2_001489

KBio2_004057

KBio2_006625

KBio3_001579

KBioGR_000635

KBioSS_001489

l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol

l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol

L-2-amino-1-(3,4-Dihydroxyphenyl)ethanol

L-3,4-dihydroxyphenylethanolamine

L-3,4-Dihydroxyphenylethanolamine

L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol

L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol

L-arterenol

L-Arterenol

Levarterenol

Levarterenolo

Levarterenolo [DCIT]

Levoarterenol

Levonor

Levonoradrenaline

Levonorepinephrine

Levophed

Levophed bitartrate

L-noradrenaline

L-Noradrenaline

L-Norepinephrine

L-NOREPINEPHRINE

LS-42676

LT03330026

LT4

NCGC00159406-02

NCGC00159406-03

NCGC00159406-04

NCGC00159406-05

NCGC00159406-06

NCGC00159406-07

NCGC00159406-09

nchembio.284-comp2

nchembio.64-comp2

nchembio705-1

NINDS_000230

Nor adrenalin

Nor adrenalin (TN)

Noradrenalin

Noradrenalina

Noradrenalina [Italian]

noradrenaline

Noradrenaline

Nor-adrenaline

Noradrenaline (JP15)

Noradrenaline bitartrate

Noradrénaline tartrate renaudin

Noradrenalinum

Norartrinal

Noreinefrina

Noreinefrina [INN-Spanish]

norepinefrina

Norepinefrina

Norepinephrin D-tartrate (1:1)

norepinephrine

Norepinephrine

Norépinéphrine

Norepinephrine (INN)

Norepinephrine [INN:JAN]

Norepinephrine bitartrate

Norepinephrine D-tartrate (1:1)

Norepinephrine hydrochloride

Norepinephrine hydrochloride, (+)-isomer

Norepinephrine hydrochloride, (+,-)-isomer

Norepinephrine l-Tartrate (1:1)

Norepinephrine L-tartrate (1:1)

Norepinephrine L-tartrate (1:1), (+,-)-isomer

Norepinephrine L-tartrate (1:1), monohydrate

Norepinephrine L-tartrate (1:1), monohydrate, (+)-isomer

Norepinephrine L-tartrate (1:2)

Norepinephrine L-tartrate, (+)-isomer

Norepinephrine Noradrenalin

Norepinephrine, (+)-isomer

Norepinephrine, (+,-)-isomer

norepinephrinum

Norepinephrinum

Norepinephrinum [INN-Latin]

Norepirenamine

Nor-epirenan

PDSP1_001111

PDSP2_001095

Renaudin brand OF norepinephrine bitartrate

Renaudin, noradrénaline tartrate

SGCUT00123

SPBio_001048

Spectrum_001009

SPECTRUM1500436

Spectrum2_001064

Spectrum3_000520

Spectrum4_000078

Spectrum5_001068

STK503776

Sympathin e

Sympathin E

Tartrate renaudin, noradrénaline

to_000024

UNII-X4W3ENH1CV

Hormones

Phase 2

Analgesics

Phase 2

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2

Hormone Antagonists

Phase 2

Cannabinoid Receptor Agonists

Phase 2

Psychotropic Drugs

Phase 2

Analgesics, Non-Narcotic

Phase 2

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

Sources

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

Sources

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

Sources

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 )	Salani M...Slaugenhaupt SA	2019
2	Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study. ( 30334929 )	Bar Aluma BE...Efrati O	2019
3	Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia. ( 30637592 )	Kaufmann H...Palma JA	2019
4	Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. ( 30783821 )	Won E...Lui YW	2019
5	Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients. ( 30889183 )	Yannai S...Ast G	2019
6	Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep. ( 30890343 )	Palma JA...Kaufmann H	2019
7	ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. ( 30905397 )	Morini E...Slaugenhaupt SA	2019
8	Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. ( 29196937 )	Palma JA...Kaufmann H	2018
9	A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. ( 29234869 )	Bar-Aluma BE...Norcliffe-Kaufmann L	2018
10	Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. ( 29289840 )	Guti?rrez JV...Norcliffe-Kaufmann L	2018
11	Ambulatory blood pressure profiles in familial dysautonomia. ( 29435868 )	Goldberg L...Sharabi Y	2018
12	Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice. ( 29672717 )	Sinha R...Krainer AR	2018
13	Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. ( 29680425 )	Singh K...Kothare SV	2018
14	Characteristics of ataxic gait in familial dysautonomia patients. ( 29698477 )	Portnoy S...Schwartz I	2018
15	Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. ( 29701768 )	Donadon I...Pagani F	2018
16	Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells. ( 29762696 )	Bruun GH...Andresen BS	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 )	Ueki Y...Lefcort F	2018
18	Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. ( 30053970 )	Kazachkov M...Kaufmann H	2018
19	Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia. ( 30063663 )	Scanzera AC...Shorter E	2018
20	Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia. ( 28161223 )	Cheishvili D...Dresner-Pollak R	2018
21	Erratum to: Animal and cellular models of familial dysautonomia. ( 28717942 )	Lefcort F...George L	2017
22	IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. ( 29290691 )	Rubin BY...Anderson SL	2017
23	Familial dysautonomia: History, genotype, phenotype and translational research. ( 27317387 )	Norcliffe-Kaufmann L...Kaufmann H	2017
24	Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia. ( 27613312 )	Fuente Mora C...Norcliffe-Kaufmann L	2017
25	Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. ( 27752785 )	Dillon RC...Kaufmann H	2017
26	Caring for adolescents with familial dysautonomia. ( 28027135 )	Keegan RD	2017
27	The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system. ( 28167615 )	Chaverra M...Lefcort F	2017
28	Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. ( 28395083 )	Mendoza-Santiesteban CE...Kaufmann H	2017
29	Familial dysautonomia: a disease with hidden tears. ( 28401297 )	Mendoza-Santiesteban CE...Kaufmann H	2017
30	Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia. ( 28404519 )	Herv? M...Ibrahim EC	2017
31	BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia. ( 28439028 )	Ohlen SB...Lefcort F	2017
32	Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study. ( 28521050 )	Palma JA...Kaufmann H	2017
33	RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia. ( 28592461 )	Ohe K...Hagiwara M	2017
34	Animal and cellular models of familial dysautonomia. ( 28667575 )	Lefcort F...George L	2017
35	Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. ( 28674865 )	Spalink CL...Kaufmann H	2017
36	Basic research and model systems in familial dysautonomia: What do we know and what's next? ( 28707017 )	Heras-Garvin A	2017
37	TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. ( 26542466 )	Heimer G...Ben Zeev B	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 )	Ho DJ...Espiritu T	2016
39	Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation. ( 26525363 )	T?llez MJ	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 )	Guti?rrez JV...Kaufmann H	2016
41	Mother-induced hypertension in familial dysautonomia. ( 26589199 )	Norcliffe-Kaufmann L...Kaufmann H	2016
42	Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia. ( 26724390 )	Tourtellotte WG	2016
43	Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. ( 26769677 )	Morini E...Dragatsis I	2016
44	Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study. ( 27129499 )	Cheishvili D...Razin A	2016
45	MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia. ( 27483351 )	Herv? M...Ibrahim EC	2016
46	Familial Dysautonomia: Mechanisms and Models. ( 27561110 )	Dietrich P...Dragatsis I	2016
47	Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia. ( 27655467 )	Hilz MJ...Rapoport DM	2016
48	Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia. ( 27699209 )	Ueki Y...Lefcort F	2016
49	Capturing the biology of disease severity in a PSC-based model of familial dysautonomia. ( 27841875 )	Zeltner N...Studer L	2016
50	Sleep Apnea in Familial Dysautonomia: A Reflection of Apnea Pathogenesis. ( 27855745 )	Orr JE...Ravits J	2016

Sources

Genes for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

Genes related to Neuropathy, Hereditary Sensory and Autonomic, Type Iii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELP1	Elongator Complex Protein 1	Protein Coding	1681.75	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	11179008 11179021 12116234 (more) 20301359 18197057 19888064 10090896 12687659 16964593 12577200 16125677 12788105 18091349 16964593 11179008 18405001 11714725 17591626 19693009 18303054 12831599 11179021 19429107 14709595 14521957 12914982 19033881 12058026 11722848 17644305 19015235 17206408 19636377 15797185 18270312 16713582 17605759 15780940 11747609
2	DBH	Dopamine Beta-Hydroxylase	Protein Coding	21.25	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16966943 9886450
3	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	19.12	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	7759111 8895241
4	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	17.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	8895241
5	ELP3	Elongator Acetyltransferase Complex Subunit 3	Protein Coding	17.38	DISEASES inferred ¹⁵
6	ELP2	Elongator Acetyltransferase Complex Subunit 2	Protein Coding	16.14	DISEASES inferred ¹⁵
7	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	16.05	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	8895241
8	NGF	Nerve Growth Factor	Protein Coding	15.9	DISEASES inferred ¹⁵
9	ACTL7B	Actin Like 7B	Protein Coding	15.74	DISEASES inferred ¹⁵

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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

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Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iii

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

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	TGF-Beta Pathway ⁶⁵ Show member pathways JAK-STAT Pathway ⁶⁵ JNK Pathway ⁶⁵ MAPK Family Pathway ⁶⁵ Regulation of eIF4 and p70S6K ⁶⁵ SOCS Pathway ⁶⁵	13.24	BDNF ELP2 NGF NTRK1 NTRK2
2	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.78	BDNF NGF NTRK1 NTRK2
3	p70S6K Signaling ⁶⁵ Show member pathways mTOR Pathway ⁶⁵ Renin-Angiotensin Pathway ⁶⁵	12.77	BDNF NGF NTRK1 NTRK2
4	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.7	BDNF NGF NTRK1 NTRK2
5	MAPK signaling pathway ¹ ³⁸	12.49	BDNF NGF NTRK1 NTRK2
6	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	12.44	BDNF NGF NTRK1 NTRK2
7	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁷ MET activates STAT3 ⁶⁷ Neurotrophin signaling pathway ³⁸ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.41	BDNF NGF NTRK1 NTRK2
8	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²³ Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²³ Cell adhesion Tight junctions ²³ Cytoskeleton remodeling Integrin outside-in signaling ²³ Development MAG-dependent inhibition of neurite outgrowth ²³	12.31	BDNF NGF NTRK1 NTRK2
9	Neuroscience ⁴	12.24	DBH NGF NTRK1 NTRK2
10	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	12.13	BDNF NGF NTRK1 NTRK2
11	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.94	BDNF NGF NTRK2
12	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶⁵ Interferon alpha/beta signaling ⁶⁷ Regulation of IFNA signaling ⁶⁷	11.94	BDNF NGF NTRK1 NTRK2
13	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.78	BDNF NGF NTRK1 NTRK2
14	Guidance Cues and Growth Cone Motility ⁶⁵	11.63	BDNF NGF NTRK1 NTRK2
15	G-protein signaling_RhoA regulation pathway ²³	11.36	BDNF NGF NTRK1 NTRK2
16	Alzheimers Disease Pathway ⁶⁵	11.25	NTRK1 NTRK2
17	BDNF-TrkB Signaling ¹	11.11	BDNF NTRK2
18	Neurotrophic factor-mediated Trk receptor signaling ¹ Show member pathways Signalling to STAT3 ⁶⁷ TRKA activation by NGF ⁶⁷	11.04	BDNF NGF NTRK1 NTRK2
19	G-protein signaling_Rap2B regulation pathway ²³	10.76	BDNF NGF NTRK1 NTRK2
20	ERK Pathway in Huntingtons Disease ¹	10.66	BDNF NTRK2
21	Microglia Activation During Neuroinflammation: Steady-State Microglia ⁶⁶	10.58	BDNF NGF NTRK1 NTRK2
22	Activation of TRKA receptors ⁶⁷ Show member pathways NGF-independant TRKA activation ⁶⁷	10.37	NGF NTRK1 NTRK2

Sources

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

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⁷⁴ UMLS

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

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

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

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

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Cochrane evidence based reviews: dysautonomia, familial

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

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