NMAN
MCID: NRM016
MIFTS: 37

Neuromyotonia and Axonal Neuropathy, Autosomal Recessive (NMAN)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

MalaCards integrated aliases for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

Name: Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 57 72 13 39
Gamstorp-Wohlfart Syndrome 57 12 20 43 72 15
Autosomal Recessive Axonal Neuropathy with Neuromyotonia 20 43 58 29 6
Nman 57 20 43 72
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 with Neuromyotonia 20 43 58
Autosomal Recessive Neuromyotonia and Axonal Neuropathy 12 43 36
Myokymia, Myotonia, and Muscle Wasting 57 20 43
Aran-Nm 20 43 58
Arcmt2-Nm 20 58
Myokymia, Myotonia and Muscle Wasting 12
Myokymia Myotonia and Muscle Wasting 72
Isaacs Syndrome 70

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive axonal neuropathy with neuromyotonia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
progressive disorder
onset in first or second decade
most patients retain ambulation with aids
motor neuropathy more prominent than sensory neuropathy


HPO:

31
neuromyotonia and axonal neuropathy, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

MedlinePlus Genetics : 43 Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. In people with autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, and hands. Muscle weakness may be especially apparent during exercise (exercise intolerance) and can lead to an unusual walking style (gait), frequent falls, and joint deformities (contractures) in the hands and feet. In some affected individuals, axonal neuropathy also causes decreased sensitivity to touch, heat, or cold, particularly in the lower arms or legs.Another feature of this condition is neuromyotonia (also known as Isaac syndrome). Neuromyotonia results from overactivation (hyperexcitability) of peripheral nerves, which leads to delayed relaxation of muscles after voluntary tensing (contraction), muscle cramps, and involuntary rippling movement of the muscles (myokymia).

MalaCards based summary : Neuromyotonia and Axonal Neuropathy, Autosomal Recessive, also known as gamstorp-wohlfart syndrome, is related to myotonia and axonal neuropathy, and has symptoms including muscle weakness, myalgia and myokymia. An important gene associated with Neuromyotonia and Axonal Neuropathy, Autosomal Recessive is HINT1 (Histidine Triad Nucleotide Binding Protein 1). Affiliated tissues include spinal cord, skeletal muscle and tongue, and related phenotypes are distal lower limb muscle weakness and emg: chronic denervation signs

Disease Ontology : 12 A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 324442 Definition A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.

OMIM® : 57 NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, 118210) and distal hereditary motor neuropathy (see, e.g., HMN1, 182960). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012). (137200) (Updated 20-May-2021)

KEGG : 36 Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function mutations in HINT1 cause this disease. HINT1 ubiquitously expressed in mammalian tissues, and it is a tumor suppressor that participates in several apoptotic pathways.

UniProtKB/Swiss-Prot : 72 Neuromyotonia and axonal neuropathy, autosomal recessive: An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves.

Related Diseases for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Diseases related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myotonia 29.8 HINT1 CNBP
2 axonal neuropathy 10.6
3 foot drop 10.4
4 polyneuropathy 10.2
5 sensory peripheral neuropathy 10.2
6 muscular atrophy 10.2
7 neuropathy 10.2
8 hereditary neuropathies 10.2

Graphical network of the top 20 diseases related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:



Diseases related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Symptoms & Phenotypes for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Human phenotypes related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
2 emg: chronic denervation signs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003444
3 emg: myokymic discharges 58 31 hallmark (90%) Very frequent (99-80%) HP:0100288
4 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
5 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
6 motor axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007002
7 motor polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007178
8 handgrip myotonia 58 31 frequent (33%) Frequent (79-30%) HP:0012899
9 limb fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0007289
10 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
11 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
12 fatigable weakness of distal limb muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030198
13 achilles tendon contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001771
14 muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003552
15 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
16 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
17 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
18 tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002273
19 progressive inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002505
20 writer's cramp 58 31 occasional (7.5%) Occasional (29-5%) HP:0002356
21 intrinsic hand muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008954
22 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
23 weakness of long finger extensor muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0009077
24 distal lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008944
25 sensory axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003390
26 peroneal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009049
27 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
28 weakness of the intrinsic hand muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0009005
29 distal sensory impairment of all modalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003409
30 percussion-induced rapid rolling muscle contractions 58 31 occasional (7.5%) Occasional (29-5%) HP:0003760
31 exercise-induced leg cramps 58 31 occasional (7.5%) Occasional (29-5%) HP:0008991
32 hyperhidrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000975
33 intellectual disability, mild 58 31 very rare (1%) Very rare (<4-1%) HP:0001256
34 specific learning disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001328
35 split hand 58 31 very rare (1%) Very rare (<4-1%) HP:0001171
36 camptodactyly of finger 58 31 very rare (1%) Very rare (<4-1%) HP:0100490
37 thoracic scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002943
38 short third metatarsal 58 31 very rare (1%) Very rare (<4-1%) HP:0004686
39 myotonia 58 31 Very frequent (99-80%) HP:0002486
40 myokymia 58 31 Very frequent (99-80%) HP:0002411
41 gait disturbance 58 Frequent (79-30%)
42 flexion contracture 58 Occasional (29-5%)
43 skeletal muscle atrophy 31 HP:0003202
44 reduced tendon reflexes 58 Frequent (79-30%)
45 areflexia 58 Occasional (29-5%)
46 abnormality of the foot 58 Frequent (79-30%)
47 fasciculations 31 HP:0002380
48 distal sensory impairment 31 HP:0002936
49 muscle spasm 31 HP:0003394
50 hand muscle atrophy 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle stiffness
fasciculations
muscle cramps
foot drop
distal muscle weakness and atrophy, upper and lower limbs
more
Skeletal Feet:
foot deformities

Neurologic Central Nervous System:
impaired gait due to peripheral neuropathy

Neurologic Peripheral Nervous System:
myokymia
axonal motor neuropathy
axonal sensory neuropathy
neuromyotonia
action myotonia
more
Head And Neck Mouth:
percussion contraction of the tongue (1 family)

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

137200 (Updated 20-May-2021)

UMLS symptoms related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:


muscle weakness; myalgia; myokymia; muscular fasciculation; muscle cramp; muscle rigidity; muscle spasticity; neuralgia; muscular stiffness

Drugs & Therapeutics for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704

Search NIH Clinical Center for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Genetic Tests for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Genetic tests related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Autosomal Recessive Axonal Neuropathy with Neuromyotonia 29 HINT1

Anatomical Context for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

MalaCards organs/tissues related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

40
Spinal Cord, Skeletal Muscle, Tongue

Publications for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Articles related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 57 6
22961002 2012
2
Neuromyotonia in hereditary motor neuropathy. 57 6
1851512 1991
3
Structure and Functional Characterization of Human Histidine Triad Nucleotide-Binding Protein 1 Mutations Associated with Inherited Axonal Neuropathy with Neuromyotonia. 6
29787766 2018
4
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 6
27549087 2016
5
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. 6
26182879 2015
6
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. 6
25342199 2015
7
[Neuromyotonia]. 57
5863557 1965
8
A syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. 57
13636890 1959
9
And now for something completely different: from 2019-nCoV and COVID-19 to 2020-nMan. 61
32151613 2020
10
[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy]. 61
31400136 2019
11
Interaction of protonated merocyanine dyes with amines in organic solvents. 61
21802349 2011
12
1H-NMR spectroscopy of manno-oligosaccharides of the beta-1,2-linked series released from the phosphopeptidomannan of Candida albicans VW-32 (serotype A). 61
1764074 1991

Variations for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

ClinVar genetic disease variations for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HINT1 NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) SNV Pathogenic 37313 rs397514489 GRCh37: 5:130495271-130495271
GRCh38: 5:131159578-131159578
2 HINT1 NM_005340.7(HINT1):c.152A>G (p.His51Arg) SNV Pathogenic 37316 rs397514491 GRCh37: 5:130498329-130498329
GRCh38: 5:131162636-131162636
3 HINT1 NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) SNV Pathogenic 37317 rs397514492 GRCh37: 5:130498297-130498297
GRCh38: 5:131162604-131162604
4 HINT1 NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) SNV Pathogenic 37318 rs397514493 GRCh37: 5:130495243-130495243
GRCh38: 5:131159550-131159550
5 HINT1 NM_005340.7(HINT1):c.355C>T (p.Arg119Trp) SNV Pathogenic 978220 GRCh37: 5:130495166-130495166
GRCh38: 5:131159473-131159473
6 HINT1 NC_000005.10:g.(?_131159427)_(131165225_?)del Deletion Pathogenic 543794 GRCh37: 5:130495120-130500918
GRCh38: 5:131159427-131165225
7 HINT1 NC_000005.10:g.(?_131159273)_(131165358_?)del Deletion Pathogenic 659597 GRCh37: 5:130494966-130501051
GRCh38: 5:131159273-131165358
8 HINT1 NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) SNV Pathogenic 37312 rs149782619 GRCh37: 5:130500789-130500789
GRCh38: 5:131165096-131165096
9 HINT1 NM_005340.7(HINT1):c.266G>T (p.Gly89Val) SNV Pathogenic 37314 rs397514490 GRCh37: 5:130495255-130495255
GRCh38: 5:131159562-131159562
10 HINT1 NM_005340.7(HINT1):c.334C>A (p.His112Asn) SNV Pathogenic 37315 rs373849532 GRCh37: 5:130495187-130495187
GRCh38: 5:131159494-131159494
11 HINT1 NM_005340.7(HINT1):c.99del (p.Phe33fs) Deletion Pathogenic 1048596 GRCh37: 5:130500800-130500800
GRCh38: 5:131165107-131165107
12 HINT1 NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) SNV Pathogenic 637252 rs1028404937 GRCh37: 5:130495205-130495205
GRCh38: 5:131159512-131159512
13 HINT1 NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) SNV Pathogenic 637254 rs1580682390 GRCh37: 5:130495153-130495153
GRCh38: 5:131159460-131159460
14 HINT1 NM_005340.7(HINT1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 645822 rs1580686455 GRCh37: 5:130500897-130500897
GRCh38: 5:131165204-131165204
15 HINT1 NM_005340.7(HINT1):c.289G>A (p.Val97Met) SNV Likely pathogenic 545660 rs1554088064 GRCh37: 5:130495232-130495232
GRCh38: 5:131159539-131159539
16 HINT1 NM_005340.7(HINT1):c.112T>C (p.Cys38Arg) SNV Likely pathogenic 545661 rs762701283 GRCh37: 5:130498369-130498369
GRCh38: 5:131162676-131162676
17 HINT1 NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) SNV Uncertain significance 568648 rs755979803 GRCh37: 5:130495244-130495244
GRCh38: 5:131159551-131159551
18 HINT1 NM_005340.7(HINT1):c.81A>G (p.Ile27Met) SNV Uncertain significance 575871 rs1561538396 GRCh37: 5:130500818-130500818
GRCh38: 5:131165125-131165125
19 HINT1 NM_005340.7(HINT1):c.243C>T (p.Gly81=) SNV Uncertain significance 543793 rs1426690264 GRCh37: 5:130495278-130495278
GRCh38: 5:131159585-131159585
20 HINT1 NC_000005.9:g.(?_130494966)_(130501051_?)dup Duplication Uncertain significance 646953 GRCh37: 5:130494966-130501051
GRCh38: 5:131159273-131165358
21 HINT1 NM_005340.7(HINT1):c.329_330dup (p.Val111fs) Duplication Uncertain significance 659256 rs1561535921 GRCh37: 5:130495190-130495191
GRCh38: 5:131159497-131159498
22 HINT1 NM_005340.7(HINT1):c.242G>T (p.Gly81Val) SNV Uncertain significance 665858 rs1580682534 GRCh37: 5:130495279-130495279
GRCh38: 5:131159586-131159586
23 HINT1 NM_005340.7(HINT1):c.119C>G (p.Ala40Gly) SNV Uncertain significance 1041555 GRCh37: 5:130498362-130498362
GRCh38: 5:131162669-131162669
24 HINT1 NM_005340.7(HINT1):c.73A>C (p.Lys25Gln) SNV Uncertain significance 1041964 GRCh37: 5:130500826-130500826
GRCh38: 5:131165133-131165133
25 HINT1 NM_005340.7(HINT1):c.167C>T (p.Pro56Leu) SNV Uncertain significance 1044363 GRCh37: 5:130498314-130498314
GRCh38: 5:131162621-131162621
26 HINT1 NM_005340.7(HINT1):c.203A>T (p.Asp68Val) SNV Uncertain significance 246535 rs371048016 GRCh37: 5:130498278-130498278
GRCh38: 5:131162585-131162585
27 HINT1 NM_005340.7(HINT1):c.217-3C>T SNV Uncertain significance 665495 rs1351028496 GRCh37: 5:130495307-130495307
GRCh38: 5:131159614-131159614
28 HINT1 NM_005340.7(HINT1):c.148A>C (p.Thr50Pro) SNV Uncertain significance 840807 GRCh37: 5:130498333-130498333
GRCh38: 5:131162640-131162640
29 HINT1 NM_005340.7(HINT1):c.59G>A (p.Gly20Glu) SNV Uncertain significance 836107 GRCh37: 5:130500840-130500840
GRCh38: 5:131165147-131165147
30 HINT1 NM_005340.7(HINT1):c.365A>T (p.His122Leu) SNV Uncertain significance 450095 rs780156681 GRCh37: 5:130495156-130495156
GRCh38: 5:131159463-131159463
31 HINT1 NM_005340.7(HINT1):c.142G>A (p.Ala48Thr) SNV Uncertain significance 941002 GRCh37: 5:130498339-130498339
GRCh38: 5:131162646-131162646
32 HINT1 NM_005340.7(HINT1):c.216T>A (p.Ser72Arg) SNV Uncertain significance 951368 GRCh37: 5:130498265-130498265
GRCh38: 5:131162572-131162572
33 HINT1 NM_005340.7(HINT1):c.136C>T (p.Pro46Ser) SNV Uncertain significance 964275 GRCh37: 5:130498345-130498345
GRCh38: 5:131162652-131162652
34 HINT1 NM_005340.7(HINT1):c.117T>A (p.Leu39=) SNV Uncertain significance 838803 GRCh37: 5:130498364-130498364
GRCh38: 5:131162671-131162671
35 HINT1 NM_005340.7(HINT1):c.110G>A (p.Arg37Gln) SNV Uncertain significance 939962 GRCh37: 5:130500789-130500789
GRCh38: 5:131165096-131165096
36 HINT1 NM_005340.7(HINT1):c.188T>A (p.Ile63Asn) SNV Uncertain significance 945101 GRCh37: 5:130498293-130498293
GRCh38: 5:131162600-131162600
37 HINT1 NM_005340.7(HINT1):c.245A>T (p.Lys82Met) SNV Uncertain significance 946058 GRCh37: 5:130495276-130495276
GRCh38: 5:131159583-131159583
38 HINT1 NM_005340.7(HINT1):c.331G>A (p.Val111Ile) SNV Uncertain significance 968425 GRCh37: 5:130495190-130495190
GRCh38: 5:131159497-131159497
39 HINT1 NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) SNV Uncertain significance 811058 rs373197800 GRCh37: 5:130495237-130495237
GRCh38: 5:131159544-131159544
40 HINT1 NM_005340.7(HINT1):c.54C>G (p.Ile18Met) SNV Uncertain significance 1056412 GRCh37: 5:130500845-130500845
GRCh38: 5:131165152-131165152
41 HINT1 NM_005340.7(HINT1):c.375del (p.Gly126fs) Deletion Uncertain significance 1057165 GRCh37: 5:130495146-130495146
GRCh38: 5:131159453-131159453
42 HINT1 NM_005340.7(HINT1):c.211G>A (p.Glu71Lys) SNV Uncertain significance 1061705 GRCh37: 5:130498270-130498270
GRCh38: 5:131162577-131162577
43 HINT1 NM_005340.7(HINT1):c.71G>T (p.Arg24Leu) SNV Uncertain significance 956140 GRCh37: 5:130500828-130500828
GRCh38: 5:131165135-131165135
44 HINT1 NM_005340.7(HINT1):c.137C>A (p.Pro46His) SNV Uncertain significance 963899 GRCh37: 5:130498344-130498344
GRCh38: 5:131162651-131162651
45 HINT1 NM_005340.7(HINT1):c.237T>A (p.Ile79=) SNV Uncertain significance 566441 rs778878755 GRCh37: 5:130495284-130495284
GRCh38: 5:131159591-131159591
46 HINT1 NM_005340.7(HINT1):c.292G>A (p.Val98Met) SNV Uncertain significance 861638 GRCh37: 5:130495229-130495229
GRCh38: 5:131159536-131159536
47 HINT1 NM_005340.7(HINT1):c.111+6_111+7insC Insertion Likely benign 477394 rs770851222 GRCh37: 5:130500781-130500782
GRCh38: 5:131165088-131165089
48 HINT1 NM_005340.7(HINT1):c.117T>C (p.Leu39=) SNV Benign 477392 rs78949626 GRCh37: 5:130498364-130498364
GRCh38: 5:131162671-131162671
49 HINT1 NM_005340.7(HINT1):c.198A>G (p.Ala66=) SNV Benign 705501 rs150581567 GRCh37: 5:130498283-130498283
GRCh38: 5:131162590-131162590
50 HINT1 NM_005340.7(HINT1):c.330C>T (p.His110=) SNV Benign 477395 rs139624223 GRCh37: 5:130495191-130495191
GRCh38: 5:131159498-131159498

UniProtKB/Swiss-Prot genetic disease variations for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 HINT1 p.Arg37Pro VAR_069212 rs149782619
2 HINT1 p.His51Arg VAR_069213 rs397514491
3 HINT1 p.Cys84Arg VAR_069214 rs397514489
4 HINT1 p.Gly89Val VAR_069215 rs397514490
5 HINT1 p.Gly93Asp VAR_069216 rs397514493
6 HINT1 p.His112Asn VAR_069217 rs373849532

Expression for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Search GEO for disease gene expression data for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive.

Pathways for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

GO Terms for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

Biological processes related to Neuromyotonia and Axonal Neuropathy, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 8.62 HINT1 CNBP

Sources for Neuromyotonia and Axonal Neuropathy, Autosomal Recessive

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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