HSAN2A
MCID: NRP053
MIFTS: 65

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, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 56 71
Hereditary Sensory and Autonomic Neuropathy Type Ii 12 24 25 58 29 6
Hereditary Sensory and Autonomic Neuropathy Type 2 12 52 25 58 15
Hsan2 12 24 52 25 58
Hereditary Sensory and Autonomic Neuropathy Type Iia 12 73 29 6
Morvan Disease 56 52 25 73
Hsan2a 56 12 25 73
Neurogenic Acroosteolysis 52 58 73
Neuropathy, Hereditary Sensory and Autonomic, Type Ii 56 13
Hereditary Sensory and Autonomic Neuropathy Type 2a 12 15
Neuropathy, Progressive Sensory, of Children 56 52
Neuropathy, Congenital Sensory 56 52
Congenital Sensory Neuropathy 25 73
Morvan Syndrome 58 17
Hsan Type Ii 25 54
Hsan Iia 56 73
Hsn Iia 56 73
Hsanii 24 25
Hsn2a 56 73
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome 58
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive 56
Hereditary Sensory Radicular Neuropathy Autosomal Recessive 73
Hereditary Sensory Radicular Neuropathy, Recessive Form 52
Neuropathy, Sensory and Autonomic, Hereditary, Type Iia 39
Neuropathy, Hereditary Sensory and Autonomic, Type Iib 71
Autosomal Recessive Sensory Radicular Neuropathy 58
Neuropathy, Hereditary Sensory and Autonomic, 2a 73
Neuropathy, Hereditary Sensory, Type Iia; Hsn2a 56
Hereditary Motor and Sensory-Neuropathy Type Ii 71
Hereditary Sensory Autonomic Neuropathy, Type 2 71
Hereditary Sensory Autonomic Neuropathy Type 2 24
Progressive Sensory Neuropathy of Children 73
Neuropathy, Hereditary Sensory, Type Iia 56
Hereditary Sensory Neuropathy Type Iia 73
Hereditary Sensory Neuropathy Type 2 52
Sensory Neuropathy, Hereditary 71
Neuropathy Congenital Sensory 54
Acroosteolysis, Giaccai Type 56
Charcot-Marie-Tooth Disease 43
Giaccai Type Acroosteolysis 52
Acroosteolysis Giaccai Type 73
Acroosteolysis, Neurogenic 56
Morvan Fibrillary Chorea 58
Morvan's Disease 71
Hsn Type Ii 25
Hsan2b 25
Hsan2c 25
Hsan2d 25

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:

56
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 56 201300
OMIM Phenotypic Series 56 PS162400
SNOMED-CT 67 398148000
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 72 C0020072 C0270914 C0751540 more
UMLS 71 C0020072 C0270914 C0699739 more

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

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 and deafness and charcot-marie-tooth disease, axonal, type 2e. 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 is Diuretics Pathway, Pharmacodynamics. The drugs Folic acid and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include testes, tongue and bone, and related phenotypes are abnormal cortical bone morphology and hyperhidrosis

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.

Genetics Home Reference : 25 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 : 73 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 546)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 35.5 SPTLC1 RETREG1 NAA50 KIF1A
2 charcot-marie-tooth disease, axonal, type 2e 35.2 SPTLC1 SLC12A6 RETREG1 NAA50 KIF1A CCT5
3 charcot-marie-tooth disease 35.0 WNK1 SPTLC1 SLC12A6 SCN9A RETREG1 NAA50
4 charcot-marie-tooth disease, axonal, type 2b 35.0 SPTLC1 NAA50
5 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 34.4 SPTLC1 SLC12A6 RETREG1 ELP1
6 neuropathy, hereditary sensory and autonomic, type v 33.2 WNK1 SPTLC1 RETREG1 NAA50 KIF1A
7 peripheral nervous system disease 32.3 SPTLC1 SLC12A6 SCN9A NAA50 KIF1A ELP1
8 neuropathy, hereditary sensory and autonomic, type iib 31.2 WNK1 STK39 SCN9A RTN4 RETREG3 RETREG2
9 hereditary sensory and autonomic neuropathy type 1 31.0 SPTLC1 RETREG1 NAA50
10 neuropathy, hereditary sensory and autonomic, type iii 30.8 SPTLC1 NAA50 ELP1
11 autonomic dysfunction 30.7 SCN9A RETREG1
12 sensory peripheral neuropathy 30.5 SPTLC1 SLC12A6 RETREG1 NAA50 FLVCR1 CCT5
13 neuropathy 30.4 WNK1 SPTLC1 SLC12A6 SCN9A RETREG1 KIF1A
14 autonomic neuropathy 30.4 WNK1 SPTLC1 SCN9A RETREG1 KIF1A ELP1
15 hereditary sensory neuropathy 30.2 WNK1 SPTLC1 SCN9A RETREG1 NAA50 KIF1A
16 charcot-marie-tooth disease, demyelinating, type 1a 13.3
17 charcot-marie-tooth disease, demyelinating, type 1b 13.3
18 charcot-marie-tooth disease, axonal, type 2b2 13.3
19 charcot-marie-tooth disease, axonal, type 2k 13.3
20 charcot-marie-tooth disease, axonal, type 2b1 13.3
21 charcot-marie-tooth disease, type 4b1 13.3
22 charcot-marie-tooth disease, type 4a 13.3
23 charcot-marie-tooth disease, axonal, type 2d 13.3
24 charcot-marie-tooth disease, type 4b2 13.3
25 charcot-marie-tooth disease, axonal, type 2p 13.3
26 charcot-marie-tooth disease, axonal, type 2f 13.3
27 charcot-marie-tooth disease, axonal, type 2a1 13.3
28 charcot-marie-tooth disease, axonal, type 2j 13.3
29 charcot-marie-tooth disease, type 4h 13.3
30 charcot-marie-tooth disease, type 4c 13.3
31 charcot-marie-tooth disease, dominant intermediate b 13.3
32 charcot-marie-tooth disease, demyelinating, type 1c 13.3
33 charcot-marie-tooth disease, type 4d 13.3
34 charcot-marie-tooth disease, type 4j 13.3
35 charcot-marie-tooth disease, axonal, type 2o 13.3
36 charcot-marie-tooth disease, type 4k 13.3
37 charcot-marie-tooth disease, axonal, type 2n 13.3
38 charcot-marie-tooth disease, axonal, type 2q 13.3
39 charcot-marie-tooth disease, demyelinating, type 1f 13.2
40 charcot-marie-tooth disease, x-linked dominant, 1 13.2
41 charcot-marie-tooth disease, demyelinating, type 1d 13.2
42 charcot-marie-tooth disease, axonal, type 2t 13.2
43 charcot-marie-tooth disease, axonal, type 2r 13.2
44 charcot-marie-tooth disease, demyelinating, type 4f 13.2
45 charcot-marie-tooth disease, axonal, type 2i 13.2
46 charcot-marie-tooth disease, dominant intermediate e 13.2
47 charcot-marie-tooth disease, recessive intermediate a 13.2
48 charcot-marie-tooth disease, x-linked recessive, 5 13.2
49 charcot-marie-tooth disease, axonal, type 2u 13.2
50 charcot-marie-tooth disease, axonal, type 2l 13.2

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 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
5 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
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 muscular hypotonia 31 HP:0001252
16 gastroesophageal reflux 31 HP:0002020
17 feeding difficulties in infancy 31 HP:0008872
18 abnormality of metabolism/homeostasis 31 HP:0001939
19 peripheral neuropathy 31 HP:0009830
20 decreased nerve conduction velocity 31 HP:0000762
21 osteolysis 58 Very frequent (99-80%)
22 areflexia 31 HP:0001284
23 hyporeflexia 31 HP:0001265
24 generalized hypotonia 31 HP:0001290
25 paronychia 31 HP:0001818
26 anhidrosis 31 HP:0000970
27 painless fractures due to injury 31 HP:0002661
28 decreased corneal reflex 31 HP:0008000
29 acroosteolysis (feet) 58 Very frequent (99-80%)
30 autoamputation of digits 31 HP:0007460
31 decreased taste sensation 31 HP:0000224
32 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
33 osteolytic defects of the phalanges of the hand 31 HP:0009771
34 episodic hyperhidrosis 31 HP:0001069
35 decreased sensory nerve conduction velocity 31 HP:0003448
36 acral ulceration 31 HP:0006121

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ELP1 EPHX2 FLVCR1 MAP3K15 NAA50 RETREG2
2 growth/size/body region MP:0005378 10.03 CCT5 ELP1 FLVCR1 GOLGB1 KIF1A LHX8
3 mortality/aging MP:0010768 9.97 CCT5 ELP1 FLVCR1 GOLGB1 KIF1A LHX8
4 nervous system MP:0003631 9.73 ELP1 KIF1A LHX8 RETREG1 RETREG3 RTN4
5 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 33)
# 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 Vitamins Phase 4
4 Nutrients Phase 4
5 Micronutrients Phase 4
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8 Alpha-lipoic Acid Phase 4
9 Vitamin B Complex Phase 4
10 Folate Phase 4
11 Thioctic Acid Phase 4
12 Vitamin B9 Phase 4
13
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
14
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
15
Sorbitol Approved Phase 3 50-70-4 5780
16
Baclofen Approved Phase 3 1134-47-0 2284
17
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
18 carnitine Phase 2, Phase 3
19 Pharmaceutical Solutions Phase 3
20 Hematinics Phase 2, Phase 3
21 Neuroprotective Agents Phase 2, Phase 3
22 Epoetin alfa Phase 2, Phase 3 113427-24-0
23
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
25 Ubiquinone Phase 1, Phase 2
26 Ulipristal acetate Phase 2 126784-99-4
27
Kinetin Approved Phase 1 525-79-1 3830
28 Analgesics
29 Insulin, Globin Zinc
30 Hemostatics
31 insulin
32 Immunologic Factors
33 Immunosuppressive Agents

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 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
5 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
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 International, Multi-center, Open Label, 9-month 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
8 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
9 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
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 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
12 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
13 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
14 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
15 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
16 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Not yet recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
17 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
18 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
19 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
20 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
21 The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia Completed NCT02274051 Phase 1
22 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
23 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
24 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
25 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
26 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
27 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
28 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
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 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
32 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
33 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
34 Clinical Outcomes of Surgical Release Among Diabetic Patients With Carpal Tunnel Syndrome. A Prospective Study With Matched Controls Completed NCT00775333
35 MRI of the Brachial Plexus and Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Assessment of DTI-derived Measurements at 3.0-T Completed NCT03460951
36 The Management of Abdominal Cutaneous Nerve Entrapment Syndrome Completed NCT03574727
37 Nociceptive Processing in Acute Cutaneous Nerve Entrapment Syndrome: a Quantitative Sensory Testing Analysis. Completed NCT01920880
38 Noninvasive Assessment of Neuromuscular Disease Using Electrical Impedance Completed NCT02011204
39 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
40 Efficacy of Keyhole Approach to Carpal Tunnel Syndrome Under Ambulatory Completed NCT03062722
41 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
42 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
43 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
44 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
45 Accuracy of Ultrasonography and Electromyography in the Diagnosis of Carpal Tunnel Syndrome Completed NCT02553811
46 A Registered Observational Cohort Study of Charcot-Marie-Tooth Disease Recruiting NCT04010188
47 Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT Recruiting NCT01193088
48 The Impact of Charcot-Marie-Tooth Disease in the Real World Recruiting NCT03782883
49 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Recruiting NCT01203085
50 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Recruiting NCT03278093

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
Testes, Tongue, Bone, Skin, Eye, Brain, Heart

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

(show top 50) (show all 73)
# Title Authors PMID Year
1
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. 6 56 61 24
18521183 2008
2
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 24 56 6 61
15060842 2004
3
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. 6 56 24
16946995 2006
4
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 56 6 24
15911806 2005
5
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. 6 24 56
15455397 2004
6
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 61 24 6
21820098 2011
7
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 61 6 24
19838196 2009
8
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. 56 61 24
16534117 2006
9
An SCN9A channelopathy causes congenital inability to experience pain. 6 24
17167479 2006
10
New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. 6 24
16636245 2006
11
Hereditary Sensory and Autonomic Neuropathy Type II 6 61
21089229 2010
12
Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family. 56 61
2808789 1989
13
Congenital Insensitivity to Pain Overview 6
29419974 2018
14
Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. 6
24327336 2014
15
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 6
17470132 2007
16
Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis. 56
7172482 1982
17
Recessive hereditary sensory neuropathy. 56
185339 1976
18
Congenital sensory neuropathy. 56
4131674 1974
19
Congenital sensory neuropathy. 56
4123669 1973
20
Hereditary sensory neuropathy. A clinical and ultrastructural study. 56
4323167 1970
21
Congenital sensory neuropathy in siblings. 56
4191331 1970
22
Neuropathologic findings in patients of a hospital for the mentally deficient. A survey of 359 cases. 56
4228863 1967
23
[Hereditary radicular neuropathy with sensory loss: study of a French-Canadian family]. 56
4303658 1967
24
PROGRESSIVE SENSORY NEUROPATHY IN CHILDREN. 56
14152533 1964
25
Some sensory syndromes in children: indifference to pain and sensory neuropathy. 56
14428406 1959
26
Familial ulcers, mutilating lesions of the extremities, and acro-osteolysis. 56
13446485 1957
27
Hereditary sensory neuropathy. 56
13235976 1955
28
[A peculiar familial dystrophy; early inhibition of acral growth and non-mutilating acral osteolysis with facial dysmorphosis]. 56
13167893 1953
29
Familial and sporadic neurogenic acro-osteolysis. 56
12976160 1952
30
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 24
25585697 2015
31
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 24
25118027 2015
32
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 24
25265257 2015
33
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. 24
24736309 2014
34
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. 24
24459106 2014
35
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. 24
24036948 2013
36
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. 24
23596073 2013
37
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. 24
22522446 2012
38
Mechanisms of disease in hereditary sensory and autonomic neuropathies. 24
22270030 2012
39
Mutation in FAM134B causing severe hereditary sensory neuropathy. 24
21115472 2012
40
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 24
21532572 2011
41
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. 24
21487076 2011
42
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 24
21376300 2011
43
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. 24
20978020 2011
44
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 24
21194679 2011
45
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 24
20920666 2010
46
LINGO-1 interacts with WNK1 to regulate nogo-induced inhibition of neurite extension. 24
19363035 2009
47
Molecular physiology of the WNK kinases. 24
17961084 2008
48
Recent advances in hereditary sensory and autonomic neuropathies. 24
16969157 2006
49
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 24
16702558 2006
50
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. 24
14976160 2004

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 1225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer)duplication Pathogenic 471095 rs1553488759 2:167136886-167136887 2:166280376-166280377
2 SCN9A NM_001365536.1(SCN9A):c.640C>T (p.Arg214Ter)SNV Pathogenic 471161 rs377543079 2:167160796-167160796 2:166304286-166304286
3 SCN9A NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)deletion Pathogenic 471143 rs1553473041 2:167055798-167055798 2:166199288-166199288
4 SCN9A NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter)duplication Pathogenic 471093 rs779327684 2:167137100-167137101 2:166280590-166280591
5 SCN9A NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs)deletion Pathogenic 471099 rs766212849 2:167134709-167134713 2:166278199-166278203
6 SCN9A NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter)SNV Pathogenic 538459 rs1411870484 2:167141033-167141033 2:166284523-166284523
7 SCN9A NM_001365536.1(SCN9A):c.757_758GT[1] (p.Phe254fs)short repeat Pathogenic 570466 rs1559027674 2:167159741-167159742 2:166303231-166303232
8 SCN9A NM_001365536.1(SCN9A):c.2577del (p.Ile859fs)deletion Pathogenic 574992 rs753900410 2:167133790-167133790 2:166277280-166277280
9 SCN9A NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter)SNV Pathogenic 573007 rs769971743 2:167134743-167134743 2:166278233-166278233
10 WNK1 NM_018979.4(WNK1):c.2140-2874C>TSNV Pathogenic 617550 12:977557-977557 12:868391-868391
11 SCN9A NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs)indel Pathogenic 663011 2:167129276-167129276 2:166272766-166272766
12 SCN9A NM_001365536.1(SCN9A):c.2033del (p.Asp678fs)deletion Pathogenic 657338 2:167138260-167138260 2:166281750-166281750
13 SCN9A NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter)SNV Pathogenic 653136 2:167134664-167134664 2:166278154-166278154
14 SCN9A NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs)deletion Pathogenic 650286 2:167141168-167141171 2:166284658-166284661
15 SCN9A NM_001365536.1(SCN9A):c.1129del (p.Thr377fs)deletion Pathogenic 651331 2:167145132-167145132 2:166288622-166288622
16 SCN9A NM_001365536.1(SCN9A):c.133G>T (p.Glu45Ter)SNV Pathogenic 648252 2:167168134-167168134 2:166311624-166311624
17 WNK1 NM_018979.4(WNK1):c.2140-3158G>ASNV Pathogenic 659035 12:977273-977273 12:868107-868107
18 WNK1 NM_018979.4(WNK1):c.2275_2282dup (p.Gln761fs)duplication Pathogenic 658949 12:987426-987427 12:878260-878261
19 WNK1 NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)SNV Pathogenic 643570 12:991198-991198 12:882032-882032
20 WNK1 NM_018979.4(WNK1):c.2139+2872dupduplication Pathogenic 641047 12:974306-974307 12:865140-865141
21 SCN9A NM_001365536.1(SCN9A):c.363del (p.Ile122fs)deletion Pathogenic 852438 2:167163480-167163480 2:166306970-166306970
22 SCN9A NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter)SNV Pathogenic 847628 2:167129073-167129073 2:166272563-166272563
23 SCN9A NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 843626 2:167142881-167142881 2:166286371-166286371
24 SCN9A NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter)SNV Pathogenic 846537 2:167094625-167094625 2:166238115-166238115
25 SCN9A NM_001365536.1(SCN9A):c.570G>A (p.Trp190Ter)SNV Pathogenic 840121 2:167162328-167162328 2:166305818-166305818
26 RETREG1 NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter)SNV Pathogenic 328 rs137852739 5:16477845-16477845 5:16477736-16477736
27 RETREG1 NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter)SNV Pathogenic 330 rs137852737 5:16565897-16565897 5:16565788-16565788
28 WNK1 WNK1, 1-BP DEL, 594Adeletion Pathogenic 5163
29 WNK1 NM_018979.4(WNK1):c.2140-3219C>TSNV Pathogenic 5164 rs111033592 12:977212-977212 12:868046-868046
30 WNK1 WNK1, 1-BP INS, 918Ainsertion Pathogenic 5165
31 WNK1 NM_018979.4(WNK1):c.2140-2493C>TSNV Pathogenic 5166 rs111033590 12:977938-977938 12:868772-868772
32 WNK1 WNK1, 1-BP DEL, 947Cdeletion Pathogenic 5167
33 WNK1 NM_018979.4(WNK1):c.2140-2568C>TSNV Pathogenic 5168 rs111033591 12:977863-977863 12:868697-868697
34 WNK1 WNK1, 1-BP INS, 1134Tinsertion Pathogenic 5169
35 WNK1 NM_018979.4(WNK1):c.2140-2795deldeletion Pathogenic 5170 rs387906331 12:977636-977636 12:868470-868470
36 WNK1 NM_018979.4(WNK1):c.1585_1586GA[3] (p.Asp531fs)short repeat Pathogenic 5171 rs387906332 12:968594-968595 12:859428-859429
37 SCN9A NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)SNV Pathogenic 6350 rs80356474 2:167133791-167133791 2:166277281-166277281
38 WNK1 NM_018979.4(WNK1):c.2140-2330dupduplication Pathogenic 804235 12:978100-978101 12:868934-868935
39 SCN9A NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe)SNV Pathogenic 6359 rs121908913 2:167085479-167085479 2:166228969-166228969
40 RETREG1 NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs)deletion Pathogenic 21257 rs137852736 5:16617062-16617063 5:16616953-16616954
41 WNK1 NM_018979.4(WNK1):c.2140-2842deldeletion Pathogenic 21269 rs137852734 12:977588-977588 12:868422-868422
42 WNK1 NM_018979.4(WNK1):c.2140-2518dupduplication Pathogenic 21270 rs137852735 12:977911-977912 12:868745-868746
43 KIF1A NM_001320705.2(KIF1A):c.2582+1023deldeletion Pathogenic 65859 rs587778791 2:241696754-241696754 2:240757337-240757337
44 KIF1A NM_001244008.1(KIF1A):c.5271dup (p.Ser1758fs)duplication Pathogenic 65875 rs587778798 2:241657528-241657529 2:240718111-240718112
45 SCN9A NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter)SNV Pathogenic 245799 rs187558439 2:167060878-167060878 2:166204368-166204368
46 SCN9A NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter)SNV Pathogenic 373040 rs1057518162 2:167137069-167137069 2:166280559-166280559
47 SCN9A NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter)SNV Pathogenic 374104 rs1057518900 2:167141295-167141295 2:166284785-166284785
48 SCN9A NM_001365536.1(SCN9A):c.4503+1G>TSNV Pathogenic/Likely pathogenic 245854 rs746241591 2:167060869-167060869 2:166204359-166204359
49 KIF1A NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp)SNV Pathogenic/Likely pathogenic 245636 rs879253888 2:241723194-241723194 2:240783777-240783777
50 SCN9A NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter)SNV Pathogenic/Likely pathogenic 504889 rs200070962 2:167060506-167060506 2:166203996-166203996

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 10.26 WNK4 WNK1 STK39

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

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 WNK4 WNK1 SLC12A6 SLC12A5 SCN9A
2 cell volume homeostasis GO:0006884 9.52 SLC12A6 SLC12A5
3 potassium ion homeostasis GO:0055075 9.51 SLC12A6 SLC12A5
4 cellular response to chemokine GO:1990869 9.49 WNK1 STK39
5 positive regulation of T cell chemotaxis GO:0010820 9.48 WNK1 STK39
6 chloride ion homeostasis GO:0055064 9.46 SLC12A6 SLC12A5
7 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.43 WNK4 WNK1
8 positive regulation of potassium ion import GO:1903288 9.4 WNK4 WNK1
9 negative regulation of sodium ion transport GO:0010766 9.37 WNK4 WNK1
10 ion homeostasis GO:0050801 9.33 WNK4 WNK1 STK39
11 signal transduction by trans-phosphorylation GO:0023016 9.32 WNK1 STK39
12 regulation of cellular process GO:0050794 9.26 WNK4 WNK1
13 positive regulation of ion transmembrane transporter activity GO:0032414 9.13 WNK4 WNK1 STK39
14 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 chloride channel inhibitor activity GO:0019869 9.26 WNK4 WNK1
2 potassium:chloride symporter activity GO:0015379 9.16 SLC12A6 SLC12A5
3 potassium channel inhibitor activity GO:0019870 8.96 WNK4 WNK1
4 cation:chloride symporter activity GO:0015377 8.62 SLC12A6 SLC12A5

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....