HSAN2A
MCID: NRP053
MIFTS: 67

Neuropathy, Hereditary Sensory and Autonomic, Type Iia (HSAN2A)

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

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

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

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Iia 57 70
Hereditary Sensory and Autonomic Neuropathy Type Ii 12 25 43 58 29 6
Hereditary Sensory and Autonomic Neuropathy Type 2 12 20 43 58 15
Hsan2 12 25 20 43 58
Hereditary Sensory and Autonomic Neuropathy Type Iia 12 72 29 6
Morvan Disease 57 20 43 72
Hsan2a 57 12 43 72
Neurogenic Acroosteolysis 20 58 72
Neuropathy, Hereditary Sensory and Autonomic, Type Ii 57 13
Hereditary Sensory and Autonomic Neuropathy Type 2a 12 15
Neuropathy, Progressive Sensory, of Children 57 20
Neuropathy, Congenital Sensory 57 20
Congenital Sensory Neuropathy 43 72
Morvan Syndrome 58 17
Hsan Type Ii 43 54
Hsan Iia 57 72
Hsn Iia 57 72
Hsanii 25 43
Hsn2a 57 72
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome 58
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive 57
Hereditary Sensory Radicular Neuropathy Autosomal Recessive 72
Hereditary Sensory Radicular Neuropathy, Recessive Form 20
Neuropathy, Sensory and Autonomic, Hereditary, Type Iia 39
Neuropathy, Hereditary Sensory and Autonomic, Type Iib 70
Autosomal Recessive Sensory Radicular Neuropathy 58
Neuropathy, Hereditary Sensory and Autonomic, 2a 72
Neuropathy, Hereditary Sensory, Type Iia; Hsn2a 57
Hereditary Motor and Sensory-Neuropathy Type Ii 70
Hereditary Sensory Autonomic Neuropathy, Type 2 70
Hereditary Sensory Autonomic Neuropathy Type 2 25
Progressive Sensory Neuropathy of Children 72
Neuropathy, Hereditary Sensory, Type Iia 57
Hereditary Sensory Neuropathy Type Iia 72
Hereditary Sensory Neuropathy Type 2 20
Sensory Neuropathy, Hereditary 70
Neuropathy Congenital Sensory 54
Acroosteolysis, Giaccai Type 57
Charcot-Marie-Tooth Disease 44
Giaccai Type Acroosteolysis 20
Acroosteolysis Giaccai Type 72
Acroosteolysis, Neurogenic 57
Morvan Fibrillary Chorea 58
Morvan's Disease 70
Hsn Type Ii 43
Hsan2b 43
Hsan2c 43
Hsan2d 43

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
onset in infancy or early childhood
high disease prevalence among french-canadians

Inheritance:
autosomal recessive


HPO:

31
neuropathy, hereditary sensory and autonomic, type iia:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070155 DOID:0070161
OMIM® 57 201300
OMIM Phenotypic Series 57 PS162400
SNOMED-CT 67 30508001
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 71 C0020072 C0270914 C0751540 more
UMLS 70 C0020072 C0270914 C0699739 more

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 970 Definition A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves. Epidemiology To date, less than 100 cases have been reported. There is no sex preference or particular ethnic preponderance. Clinical description Disease onset is typically in infancy and is non-progressive. Initial symptoms (from birth to 3 years) include lack of crying with trauma, self-mutilation (tongue, lips), swallowing and feeding problems. Gastroesophageal reflux is common. Sensory dysfunction is manifested by reduced or absent pain and temperature perception, and depressed or absent deep tendon reflexes. Corneal reflexes are reduced or absent. Muscle strength is preserved and there is no atrophy. Sensation to fine touch, position, vibration, taste, and gag reflexes may be diminished. Unrecognized injuries (e.g., burns, skin and corneal ulcers) and fractures of hands, feet, and limbs, sometimes resulting in osteomyelitis, as well as Charcot joints are frequent. Some patients have hearing loss. Autonomic involvement is limited to reduced lacrimation. Patients do not typically have orthostatic hypotension or sweating abnormalities. Etiology Causal mutations in several genes have been identified and include SCN9A (2q24.3), WNK1 (12p13.33), RETREG1 (5p15.1), and KIF1A (2q37.3), all of which appear to be involved in the development of sensory nerves. Diagnostic methods Diagnosis is based upon clinical features ( congenital onset of severe reduction in sensory modalities and deep tendon reflexes resulting in injuries and self-mutilation). Neurophysiological evaluation (showing slow sensory conduction velocities and amplitudes), electromyogram and electroencephalographic studies support the diagnosis. Targeted genetic testing identifying described mutations in causatives genes is confirmatory. For cases in which no genetic mutation can be identified with targeted genetic testing, whole exome sequencing may identify novel variants/genes. Differential diagnosis Differential diagnosis includes the other hereditary sensory and autonomic neuropathies, the most similar of which include hereditary sensory and autonomic neuropathy type 4 (characterized by complete lack of pain and complete lack of sweating), familial dysautonomia (accompanied by baroreflex abnormalities with paroxysmal episodes of nausea, retching, vomiting and hypertension ) and hereditary sensory and autonomic neuropathy type 1 (typically adult-onset). Genetic counseling The pattern of inheritance is autosomal recessive. Where both parents are unaffected carriers, the risk of disease transmission to offspring is 25%. Offspring of affected individuals are obligate carriers. Penetrance is always complete, but the severity of the disease is variable. Management and treatment Management is symptomatic and preventative. If feeding problems compromise nutrition and if gastroesophageal reflux is also present, fundoplication with gastrostomy might be considered. Parents' and patients' education is required to learn how to avoid injury and be alert for signs of unrecognized trauma. Reduced lacrimation requires artificial tears and corneal protective lenses to prevent corneal ulcers. Prognosis No natural history studies have been performed. Most patients reach adulthood.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Iia, also known as hereditary sensory and autonomic neuropathy type ii, is related to charcot-marie-tooth disease, axonal, type 2e and charcot-marie-tooth disease. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iia is WNK1 (WNK Lysine Deficient Protein Kinase 1), and among its related pathways/superpathways are Neuroscience and Diuretics Pathway, Pharmacodynamics. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and spinal cord, and related phenotypes are hyperhidrosis and hyperlordosis

Disease Ontology : 12 A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.

MedlinePlus Genetics : 43 Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch to the brain. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic neurons, which control involuntary body functions such as heart rate, digestion, and breathing. The sensory and autonomic neurons are part of the body's peripheral nervous system, which comprises the nerves outside the brain and spinal cord. HSAN2 is considered a form of peripheral neuropathy.The signs and symptoms of HSAN2 typically begin in infancy or early childhood. The first sign of the condition is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. In people with HSAN2, unnoticed injuries often lead to open sores (ulcers) on the hands and feet. Because affected individuals cannot feel the pain of these sores, they may not seek treatment right away. Without treatment, the ulcers can become infected and may require amputation of the affected area. People with HSAN2 often injure themselves unintentionally, typically by biting the tongue, lips, or fingers. These injuries may lead to loss of the affected areas, such as the tip of the tongue. Affected individuals often have injuries and fractures in their hands, feet, limbs, and joints that go untreated because of the inability to feel pain. Repeated injury can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are damaged.The effects of HSAN2 on the autonomic nervous system are more variable. Some infants with HSAN2 have digestive problems such as the backflow of stomach acids into the esophagus (gastroesophageal reflux) or slow eye-blink or gag reflexes. Affected individuals may also have weak deep-tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer.Some people with HSAN2 lose a type of taste bud on the tip of the tongue called lingual fungiform papillae and have a diminished sense of taste.

UniProtKB/Swiss-Prot : 72 Neuropathy, hereditary sensory and autonomic, 2A: 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. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves.

More information from OMIM: 201300 PS162400
GeneReviews: NBK49247

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

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 Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 588)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2e 33.8 SPTLC1 SLC12A6 RETREG1 KIF1A CCT5
2 charcot-marie-tooth disease 33.5 WNK1 SPTLC1 SLC12A6 SCN9A SCN1A-AS1 RETREG1-AS1
3 neuropathy, hereditary sensory and autonomic, type v 32.5 WNK1 SPTLC1 RETREG1 KIF1A ELP1
4 indifference to pain, congenital, autosomal recessive 32.0 SCN9A SCN1A-AS1
5 neuropathy, hereditary sensory and autonomic, type iib 31.3 WNK1 STK39 SCN9A RTN4 RETREG3 RETREG2
6 autonomic dysfunction 31.2 SCN9A RETREG1
7 neuropathy, hereditary sensory and autonomic, type iii 30.7 SPTLC1 RETREG1 ELP1
8 autonomic neuropathy 30.6 WNK1 SPTLC1 SCN9A RETREG1 KIF1A FLVCR1
9 sensory peripheral neuropathy 30.5 SPTLC1 SLC12A6 SCN9A RETREG1 FLVCR1 CCT5
10 hereditary sensory neuropathy 30.5 WNK1 SPTLC1 SCN9A RETREG1 KIF1A FLVCR1
11 neuropathy 30.3 WNK1 SPTLC1 SLC12A6 SCN9A SCN1A-AS1 RETREG1
12 charcot-marie-tooth disease and deafness 12.2
13 charcot-marie-tooth disease, demyelinating, type 1a 12.2
14 charcot-marie-tooth disease, axonal, type 2k 12.2
15 charcot-marie-tooth disease, demyelinating, type 1b 12.2
16 charcot-marie-tooth disease, axonal, type 2b2 12.2
17 charcot-marie-tooth disease, axonal, type 2b1 12.2
18 charcot-marie-tooth disease, axonal, type 2f 12.1
19 charcot-marie-tooth disease, type 4b1 12.1
20 charcot-marie-tooth disease, axonal, type 2b 12.1
21 charcot-marie-tooth disease, type 4b2 12.1
22 charcot-marie-tooth disease, type 4a 12.1
23 charcot-marie-tooth disease, axonal, type 2p 12.1
24 charcot-marie-tooth disease, axonal, type 2d 12.1
25 charcot-marie-tooth disease, axonal, type 2j 12.1
26 charcot-marie-tooth disease, axonal, type 2a1 12.1
27 charcot-marie-tooth disease, type 4h 12.1
28 charcot-marie-tooth disease, demyelinating, type 1c 12.1
29 charcot-marie-tooth disease, dominant intermediate b 12.1
30 charcot-marie-tooth disease, type 4d 12.1
31 charcot-marie-tooth disease, type 4j 12.1
32 charcot-marie-tooth disease, type 4c 12.1
33 charcot-marie-tooth disease, axonal, type 2o 12.1
34 hereditary motor and sensory neuropathy, type iic 12.1
35 charcot-marie-tooth disease, type 4k 12.1
36 charcot-marie-tooth disease, axonal, type 2n 12.1
37 charcot-marie-tooth disease, axonal, type 2q 12.1
38 charcot-marie-tooth disease, demyelinating, type 4f 12.1
39 charcot-marie-tooth disease, demyelinating, type 1f 12.1
40 charcot-marie-tooth disease, x-linked dominant, 1 12.1
41 charcot-marie-tooth disease, demyelinating, type 1d 12.1
42 charcot-marie-tooth disease, axonal, type 2t 12.1
43 charcot-marie-tooth disease, dominant intermediate e 12.1
44 charcot-marie-tooth disease, axonal, type 2i 12.1
45 charcot-marie-tooth disease, x-linked recessive, 5 12.1
46 charcot-marie-tooth disease, axonal, type 2r 12.1
47 charcot-marie-tooth disease, axonal, type 2l 12.1
48 charcot-marie-tooth disease, recessive intermediate a 12.1
49 charcot-marie-tooth disease, axonal, type 2z 12.1
50 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 12.1

Comorbidity relations with Neuropathy, Hereditary Sensory and Autonomic, Type Iia via Phenotypic Disease Network (PDN):


Acute Cystitis Hypertension, Essential

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



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

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

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

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
3 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
4 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
5 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
6 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
7 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
8 abnormality of the ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003028
9 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
10 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
11 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
12 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
13 abnormality of the knee 58 31 hallmark (90%) Very frequent (99-80%) HP:0002815
14 foot acroosteolysis 31 hallmark (90%) HP:0001842
15 gastroesophageal reflux 31 HP:0002020
16 feeding difficulties in infancy 31 HP:0008872
17 decreased nerve conduction velocity 31 HP:0000762
18 areflexia 31 HP:0001284
19 peripheral neuropathy 31 HP:0009830
20 hyporeflexia 31 HP:0001265
21 abnormality of metabolism/homeostasis 31 HP:0001939
22 osteolysis 58 Very frequent (99-80%)
23 generalized hypotonia 31 HP:0001290
24 paronychia 31 HP:0001818
25 anhidrosis 31 HP:0000970
26 painless fractures due to injury 31 HP:0002661
27 decreased corneal reflex 31 HP:0008000
28 acroosteolysis (feet) 58 Very frequent (99-80%)
29 autoamputation of digits 31 HP:0007460
30 osteolytic defects of the phalanges of the hand 31 HP:0009771
31 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
32 episodic hyperhidrosis 31 HP:0001069
33 decreased sensory nerve conduction velocity 31 HP:0003448
34 acral ulceration 31 HP:0006121
35 hypotonia 31 HP:0001252
36 hypogeusia 31 HP:0000224

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Skin Nails Hair Nails:
paronychia

Head And Neck Mouth:
decreased taste sensation

Skeletal Feet:
acroosteolysis
acral ulceration leading to autoamputation of digits

Skin Nails Hair Skin:
hyperhidrosis, episodic
anhidrosis, patchy
ulcerations of distal extremities

Laboratory Abnormalities:
decreased axonal flare response after intradermal histamine injection

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased taste sensation
hypotonia
impaired corneal reflex
more
Skeletal:
painless fractures due to injury
neurogenic joint degeneration

Skeletal Hands:
acroosteolysis
acral ulceration leading to autoamputation of digits

Head And Neck Eyes:
impaired corneal reflex

Muscle Soft Tissue:
muscle strength and bulk is preserved

Clinical features from OMIM®:

201300 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 ELP1 FLVCR1 MAP3K15 RETREG2 RETREG3 RTN4
2 growth/size/body region MP:0005378 9.97 CCT5 ELP1 FLVCR1 GOLGB1 KIF1A RETREG2
3 nervous system MP:0003631 9.73 ELP1 KIF1A RETREG1 RETREG3 RTN4 SCN9A
4 renal/urinary system MP:0005367 9.17 ELP1 FLVCR1 MAP3K15 SCN9A STK39 WNK1

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

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Trace Elements Phase 4
3 Nutrients Phase 4
4 Micronutrients Phase 4
5 Vitamins Phase 4
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8 Vitamin B9 Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Alpha-lipoic Acid Phase 4
12 Thioctic Acid Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Ethanol Approved Phase 3 64-17-5 702
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
19 carnitine Phase 2, Phase 3
20 Nootropic Agents Phase 2, Phase 3
21 Pharmaceutical Solutions Phase 3
22 Gastrointestinal Agents Phase 3
23 Narcotics Phase 3
24 Cathartics Phase 3
25 GABA Agonists Phase 3
26 Neurotransmitter Agents Phase 3
27 Narcotic Antagonists Phase 3
28 Laxatives Phase 3
29 Hematinics Phase 2, Phase 3
30 Epoetin alfa Phase 2, Phase 3 113427-24-0
31 Neuroprotective Agents Phase 2, Phase 3
32
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
33
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
34
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
35 Ubiquinone Phase 1, Phase 2
36 Vitamin B7 Phase 2
37 Ulipristal acetate Phase 2 126784-99-4
38
Iron Approved 7439-89-6 23925 29936
39
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
40
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
41 Analgesics
42 Calciferol
43 Calcium, Dietary
44 insulin
45 Insulin, Globin Zinc
46 Hemostatics
47 Immunosuppressive Agents
48 Immunologic Factors
49
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
3 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
4 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
6 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
7 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
8 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
9 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
10 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
11 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
12 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
13 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
14 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
15 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
16 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
17 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
18 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
19 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
20 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
21 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
22 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
23 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
24 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
25 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
26 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
27 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
28 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
29 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
30 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
31 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
32 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
33 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
34 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
35 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
36 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
37 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
38 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
39 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
40 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
41 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
42 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
43 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
44 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
45 Posterior Interosseous Nerve Pathology May Provide Novel Insights Into Both Predisposition and Potential Vascular Basis for the Development of Carpal Tunnel Syndrome in Diabetic Patients. Completed NCT00856011
46 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
47 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
48 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
49 Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) Completed NCT03966287
50 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722

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

Cochrane evidence based reviews: charcot-marie-tooth disease

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

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

# Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy Type Iia 29 KIF1A RETREG1 SCN9A WNK1
2 Hereditary Sensory and Autonomic Neuropathy Type Ii 29

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

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

40
Tongue, Eye, Spinal Cord, Bone, Lung, Skeletal Muscle, Liver

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

(show top 50) (show all 93)
# Title Authors PMID Year
1
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. 57 6 25 61
18521183 2008
2
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 61 25 57 6
15060842 2004
3
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 6 57 25
15911806 2005
4
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. 6 57 61
16534117 2006
5
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. 57 6
16946995 2006
6
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. 57 6
15455397 2004
7
The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA. 25 6
31132985 2019
8
WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. 6 25
28422281 2017
9
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. 61 6
29701257 2018
10
Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report. 6 61
27765018 2016
11
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 6 61
21820098 2011
12
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 6 61
19838196 2009
13
Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family. 57 61
2808789 1989
14
SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine. 6
31372899 2020
15
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia. 6
31616253 2019
16
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree. 6
30497409 2018
17
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia. 6
29978519 2018
18
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. 6
28834584 2017
19
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 6
28832565 2017
20
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. 6
28970574 2017
21
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
22
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. 6
28116328 2017
23
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. 6
27034427 2016
24
Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene. 6
27066579 2016
25
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 6
26354034 2015
26
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 6
26410750 2015
27
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 6
25585697 2015
28
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 6
26125038 2015
29
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 6
25265257 2015
30
KIF1A mutation in a patient with progressive neurodegeneration. 6
25253658 2014
31
Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain. 6
25253744 2014
32
Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia. 6
29911575 2014
33
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. 6
24327336 2014
34
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. 6
23129781 2013
35
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 6
22302274 2012
36
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. 6
22258533 2012
37
A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2. 6
22910560 2012
38
Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel. 6
23149731 2012
39
Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families. 6
21625937 2011
40
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6
21376300 2011
41
Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. 6
21115638 2011
42
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. 6
20635406 2010
43
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. 6
20628234 2010
44
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 6
19651702 2009
45
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 6
19763161 2009
46
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 6
19557861 2009
47
Two novel SCN9A mutations causing insensitivity to pain. 6
19304393 2009
48
Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. 6
18599537 2008
49
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 6
17470132 2007
50
An SCN9A channelopathy causes congenital inability to experience pain. 6
17167479 2006

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

6 (show top 50) (show all 2420)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) SNV Pathogenic 6353 rs121908908 GRCh37: 2:167143072-167143072
GRCh38: 2:166286562-166286562
2 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2331del (p.Ala777_Ile778insTer) Deletion Pathogenic 6354 rs1574856736 GRCh37: 2:167136879-167136879
GRCh38: 2:166280369-166280369
3 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) SNV Pathogenic 6355 rs121908909 GRCh37: 2:167133643-167133643
GRCh38: 2:166277133-166277133
4 SCN9A NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) SNV Pathogenic 6362 rs121908916 GRCh37: 2:167159672-167159672
GRCh38: 2:166303162-166303162
5 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) SNV Pathogenic 6363 rs121908917 GRCh37: 2:167149864-167149864
GRCh38: 2:166293354-166293354
6 RETREG1 FAM134B, 2-BP DEL, 17CT Deletion Pathogenic 329 GRCh37:
GRCh38:
7 RETREG1 FAM134B, IVS7DS, T-C, +2 SNV Pathogenic 331 GRCh37:
GRCh38:
8 KIF1A NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs) Duplication Pathogenic 65875 rs587778798 GRCh37: 2:241657528-241657529
GRCh38: 2:240718111-240718112
9 WNK1 NM_018979.4(WNK1):c.2140-2874C>T SNV Pathogenic 617550 rs1478989689 GRCh37: 12:977557-977557
GRCh38: 12:868391-868391
10 WNK1 NM_018979.4(WNK1):c.2140-3376_2140-3375del Microsatellite Pathogenic 973151 GRCh37: 12:977052-977053
GRCh38: 12:867886-867887
11 WNK1 NM_018979.4(WNK1):c.2140-3182del Deletion Pathogenic 973152 GRCh37: 12:977248-977248
GRCh38: 12:868082-868082
12 WNK1 NM_018979.4(WNK1):c.2140-2924C>G SNV Pathogenic 973153 GRCh37: 12:977507-977507
GRCh38: 12:868341-868341
13 WNK1 NM_018979.4(WNK1):c.2140-2896_2140-2895del Deletion Pathogenic 973154 GRCh37: 12:977534-977535
GRCh38: 12:868368-868369
14 WNK1 NM_018979.4(WNK1):c.2140-2886C>T SNV Pathogenic 973155 GRCh37: 12:977545-977545
GRCh38: 12:868379-868379
15 WNK1 NM_018979.4(WNK1):c.2140-2792T>G SNV Pathogenic 973156 GRCh37: 12:977639-977639
GRCh38: 12:868473-868473
16 WNK1 NM_018979.4(WNK1):c.2140-2718A>T SNV Pathogenic 973157 GRCh37: 12:977713-977713
GRCh38: 12:868547-868547
17 WNK1 NM_018979.4(WNK1):c.2140-2489del Deletion Pathogenic 973158 GRCh37: 12:977941-977941
GRCh38: 12:868775-868775
18 WNK1 NM_018979.4(WNK1):c.2140-2464C>A SNV Pathogenic 973159 GRCh37: 12:977967-977967
GRCh38: 12:868801-868801
19 WNK1 NM_018979.4(WNK1):c.2140-2372_2140-2371del Deletion Pathogenic 973160 GRCh37: 12:978059-978060
GRCh38: 12:868893-868894
20 WNK1 NM_018979.4(WNK1):c.2140-2347dup Duplication Pathogenic 973161 GRCh37: 12:978080-978081
GRCh38: 12:868914-868915
21 WNK1 NM_018979.4(WNK1):c.2140-2302dup Duplication Pathogenic 973162 GRCh37: 12:978128-978129
GRCh38: 12:868962-868963
22 WNK1 NM_018979.4(WNK1):c.2140-2268_2140-2265del Deletion Pathogenic 973163 GRCh37: 12:978160-978163
GRCh38: 12:868994-868997
23 WNK1 NM_018979.4(WNK1):c.2140-2244_2140-2240del Deletion Pathogenic 973164 GRCh37: 12:978184-978188
GRCh38: 12:869018-869022
24 WNK1 NM_018979.4(WNK1):c.2140-2217_2140-2210del Deletion Pathogenic 973165 GRCh37: 12:978212-978219
GRCh38: 12:869046-869053
25 WNK1 NM_018979.4(WNK1):c.7147T>A (p.Ter2383Lys) SNV Pathogenic 1032051 GRCh37: 12:1017956-1017956
GRCh38: 12:908790-908790
26 RETREG1 NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) SNV Pathogenic 328 rs137852739 GRCh37: 5:16477845-16477845
GRCh38: 5:16477736-16477736
27 RETREG1 NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) SNV Pathogenic 330 rs137852737 GRCh37: 5:16565897-16565897
GRCh38: 5:16565788-16565788
28 WNK1 NM_018979.4(WNK1):c.2140-2568C>T SNV Pathogenic 5168 rs111033591 GRCh37: 12:977863-977863
GRCh38: 12:868697-868697
29 WNK1 NM_018979.4(WNK1):c.2140-2518dup Duplication Pathogenic 21270 rs137852735 GRCh37: 12:977911-977912
GRCh38: 12:868745-868746
30 KIF1A NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) Deletion Pathogenic 65859 rs587778791 GRCh37: 2:241696754-241696754
GRCh38: 2:240757337-240757337
31 KIF1A NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) Deletion Pathogenic 65859 rs587778791 GRCh37: 2:241696754-241696754
GRCh38: 2:240757337-240757337
32 RETREG1 NM_019000.4(RETREG1):c.403del (p.Ser135fs) Deletion Pathogenic 203444 rs886037748 GRCh37: 5:16478190-16478190
GRCh38: 5:16478081-16478081
33 RETREG1 NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) SNV Pathogenic 328 rs137852739 GRCh37: 5:16477845-16477845
GRCh38: 5:16477736-16477736
34 RETREG1 NM_001034850.2(RETREG1):c.873+2T>C SNV Pathogenic 21259 rs137852738 GRCh37: 5:16478141-16478141
GRCh38: 5:16478032-16478032
35 RETREG1 NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) SNV Pathogenic 330 rs137852737 GRCh37: 5:16565897-16565897
GRCh38: 5:16565788-16565788
36 RETREG1-AS1 , RETREG1 NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) Deletion Pathogenic 21257 rs137852736 GRCh37: 5:16617062-16617063
GRCh38: 5:16616953-16616954
37 WNK1 NM_018979.4(WNK1):c.1748dup (p.Gln584fs) Duplication Pathogenic 1028131 GRCh37: 12:970296-970297
GRCh38: 12:861130-861131
38 RETREG1 NM_001034850.2(RETREG1):c.458+2T>C SNV Pathogenic 915376 GRCh37: 5:16565870-16565870
GRCh38: 5:16565761-16565761
39 WNK1 NM_018979.4(WNK1):c.2140-2330dup Duplication Pathogenic 804235 GRCh37: 12:978100-978101
GRCh38: 12:868934-868935
40 KIF1A NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs) Duplication Pathogenic 65875 rs587778798 GRCh37: 2:241657528-241657529
GRCh38: 2:240718111-240718112
41 WNK1 NM_018979.4(WNK1):c.2140-2493C>T SNV Pathogenic 5166 rs111033590 GRCh37: 12:977938-977938
GRCh38: 12:868772-868772
42 WNK1 NM_018979.4(WNK1):c.2140-2842del Deletion Pathogenic 21269 rs137852734 GRCh37: 12:977588-977588
GRCh38: 12:868422-868422
43 WNK1 NM_018979.4(WNK1):c.1585_1586GA[3] (p.Asp531fs) Microsatellite Pathogenic 5171 rs387906332 GRCh37: 12:968594-968595
GRCh38: 12:859428-859429
44 WNK1 NM_018979.4(WNK1):c.2140-2795del Deletion Pathogenic 5170 rs387906331 GRCh37: 12:977636-977636
GRCh38: 12:868470-868470
45 WNK1 WNK1, 1-BP INS, 1134T Insertion Pathogenic 5169 GRCh37:
GRCh38:
46 WNK1 WNK1, 1-BP DEL, 947C Deletion Pathogenic 5167 GRCh37:
GRCh38:
47 WNK1 WNK1, 1-BP INS, 918A Insertion Pathogenic 5165 GRCh37:
GRCh38:
48 WNK1 NM_018979.4(WNK1):c.2140-3219C>T SNV Pathogenic 5164 rs111033592 GRCh37: 12:977212-977212
GRCh38: 12:868046-868046
49 WNK1 WNK1, 1-BP DEL, 594A Deletion Pathogenic 5163 GRCh37:
GRCh38:
50 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.4364del (p.Val1455fs) Deletion Pathogenic 488589 rs1553478584 GRCh37: 2:167083111-167083111
GRCh38: 2:166226601-166226601

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

# Super pathways Score Top Affiliating Genes
1 11.79 SLC12A5 SLC12A2 SCN9A RTN4
2 10.26 WNK4 WNK1 STK39

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

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.5 WNK4 WNK1 STK39 SPTLC1 SLC12A6 SLC12A5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.98 SLC12A6 SLC12A5 SLC12A2 SCN9A FLVCR1
2 ion transport GO:0006811 9.93 WNK4 WNK1 SLC12A6 SLC12A5 SLC12A2 SCN9A
3 potassium ion transport GO:0006813 9.77 SLC12A6 SLC12A5 SLC12A2
4 potassium ion transmembrane transport GO:0071805 9.77 SLC12A6 SLC12A5 SLC12A2
5 chloride transmembrane transport GO:1902476 9.74 SLC12A6 SLC12A5 SLC12A2
6 chloride transport GO:0006821 9.72 WNK4 SLC12A5 SLC12A2
7 potassium ion import across plasma membrane GO:1990573 9.61 SLC12A6 SLC12A5 SLC12A2
8 positive regulation of T cell chemotaxis GO:0010820 9.58 WNK1 STK39
9 reticulophagy GO:0061709 9.56 RETREG3 RETREG1
10 cellular hypotonic response GO:0071476 9.54 STK39 SLC12A6
11 ion homeostasis GO:0050801 9.54 WNK4 WNK1 STK39
12 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.52 WNK4 WNK1
13 positive regulation of potassium ion import GO:1903288 9.51 WNK4 WNK1
14 cell volume homeostasis GO:0006884 9.5 SLC12A6 SLC12A5 SLC12A2
15 cellular chloride ion homeostasis GO:0030644 9.49 SLC12A5 SLC12A2
16 negative regulation of sodium ion transport GO:0010766 9.48 WNK4 WNK1
17 cellular response to chemokine GO:1990869 9.43 WNK1 STK39 SLC12A2
18 regulation of cellular process GO:0050794 9.4 WNK4 WNK1
19 potassium ion homeostasis GO:0055075 9.33 SLC12A6 SLC12A5 SLC12A2
20 chloride ion homeostasis GO:0055064 9.13 SLC12A6 SLC12A5 SLC12A2
21 negative regulation of pancreatic juice secretion GO:0090188 8.8 WNK4 WNK1 STK39

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.77 WNK1 STK39 SLC12A6 SLC12A5 SLC12A2
2 symporter activity GO:0015293 9.63 SLC12A6 SLC12A5 SLC12A2
3 transmembrane transporter activity GO:0022857 9.56 SLC12A6 SLC12A5 SLC12A2 FLVCR1
4 ammonium transmembrane transporter activity GO:0008519 9.43 SLC12A6 SLC12A2
5 chloride channel inhibitor activity GO:0019869 9.4 WNK4 WNK1
6 potassium channel inhibitor activity GO:0019870 9.32 WNK4 WNK1
7 potassium ion transmembrane transporter activity GO:0015079 9.16 SLC12A6 SLC12A2
8 potassium:chloride symporter activity GO:0015379 9.13 SLC12A6 SLC12A5 SLC12A2
9 cation:chloride symporter activity GO:0015377 8.8 SLC12A6 SLC12A5 SLC12A2

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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
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