PNMHH
MCID: PRP075
MIFTS: 37

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss (PNMHH)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

MalaCards integrated aliases for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

Name: Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 56 73 29 13 6 71
Pnmhh 56 73
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome 58
Neuropathy, Peripheral, Myopathy, Hoarseness, and Hearing Loss 39
Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome 58
Peripheral Nervous System Diseases 43

Characteristics:

Orphanet epidemiological data:

58
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset 10.6 years
hearing loss and hoarseness occur later
one korean family has been reported (as of november 2011)


HPO:

31
peripheral neuropathy, myopathy, hoarseness, and hearing loss:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

UniProtKB/Swiss-Prot : 73 Peripheral neuropathy, myopathy, hoarseness, and hearing loss: A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles.

MalaCards based summary : Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss, also known as pnmhh, is related to cauda equina syndrome and radiculopathy. An important gene associated with Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is MYH14 (Myosin Heavy Chain 14). The drugs Methylcobalamin and Quinapril have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and spinal cord, and related phenotypes are peripheral neuropathy and decreased nerve conduction velocity

More information from OMIM: 614369

Related Diseases for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cauda equina syndrome 11.1
2 radiculopathy 11.1
3 polyradiculoneuropathy 11.1
4 nervous system disease 10.3
5 deafness, autosomal dominant 4a 10.2
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
7 miyoshi muscular dystrophy 10.2
8 myopathy 10.2
9 peripheral nervous system disease 10.2
10 neuropathy 10.2
11 amyotrophic lateral sclerosis 1 9.9
12 spinal muscular atrophy 9.9
13 guillain-barre syndrome 9.9
14 lateral sclerosis 9.9
15 muscular atrophy 9.9
16 carpal tunnel syndrome 9.8
17 systemic lupus erythematosus 9.8
18 krabbe disease 9.8
19 myeloma, multiple 9.8
20 kearns-sayre syndrome 9.8
21 scoliosis 9.8
22 leukodystrophy 9.8
23 mononeuropathy 9.8
24 optic neuritis 9.8
25 polyneuropathy 9.8
26 neuritis 9.8
27 motor neuron disease 9.8
28 axonal neuropathy 9.8
29 lupus erythematosus 9.8
30 macroglobulinemia 9.8
31 amyloidosis 9.8
32 diabetic neuropathy 9.8
33 giant axonal neuropathy 9.8
34 paresthesia 9.8

Graphical network of the top 20 diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:



Diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Symptoms & Phenotypes for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Human phenotypes related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
2 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
3 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
4 hoarse voice 58 31 very rare (1%) Frequent (79-30%) HP:0001609
5 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
6 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
7 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
8 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
9 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
10 structural foot deformity 58 31 frequent (33%) Frequent (79-30%) HP:0010219
11 progressive distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009063
12 mitochondrial swelling 58 31 frequent (33%) Frequent (79-30%) HP:0030774
13 mildly elevated creatine kinase 31 frequent (33%) HP:0008180
14 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
16 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
17 arthritis 58 31 very rare (1%) Very rare (<4-1%) HP:0001369
18 seizure 31 very rare (1%) HP:0001250
19 seizures 58 Very rare (<4-1%)
20 myopathy 58 Frequent (79-30%)
21 dysphagia 58 Excluded (0%)
22 vocal cord paralysis 58 Excluded (0%)
23 abnormality of the foot 31 HP:0001760
24 distal amyotrophy 31 HP:0003693
25 mildly elevated creatine phosphokinase 58 Frequent (79-30%)
26 distal muscle weakness 31 HP:0002460

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
nerve conduction studies show mildly reduced or normal sensory values
peroneal nerves show severely reduced cmaps

Laboratory Abnormalities:
mildly increased serum creatine kinase

Head And Neck Ears:
deafness, sensorineural (45%)

Voice:
hoarseness (53%)

Skeletal Feet:
foot deformities

Muscle Soft Tissue:
degenerating fibers
endomysial fibrosis
distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)
distal muscle atrophy (lower limbs more affected than upper limbs)
proximal weakness of the lower limbs with longer disease duration
more
Neurologic Central Nervous System:
tremor (3 patients)

Clinical features from OMIM:

614369

Drugs & Therapeutics for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Drugs for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 310)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
2
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
3
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
6
Nabilone Approved, Investigational Phase 4 51022-71-0 5284592
7
Ziconotide Approved Phase 4 107452-89-1 447451
8
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
9
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
10
Racepinephrine Approved Phase 4 329-65-7 838
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
13
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
14
Norepinephrine Approved Phase 4 51-41-2 439260
15
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
16
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
17
Tapentadol Approved Phase 4 175591-23-8 9838022
18
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
19
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
20
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
21
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
22
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
24
Choline Approved, Nutraceutical Phase 4 62-49-7 305
25
Cobalamin Experimental Phase 4 13408-78-1 6857388
26 Angiotensin-Converting Enzyme Inhibitors Phase 4
27
protease inhibitors Phase 4
28 HIV Protease Inhibitors Phase 4
29 Vitamin B 12 Phase 4
30 Vitamin B12 Phase 4
31 Excitatory Amino Acid Antagonists Phase 4
32 Antiemetics Phase 4
33 Antipyretics Phase 4
34 Vitamin B 6 Phase 4
35 Neuroprotective Agents Phase 4
36 Adrenergic alpha-Agonists Phase 4
37 Adrenergic Agonists Phase 4
38 Calciferol Phase 4
39 Adrenergic beta-Agonists Phase 4
40 Vasoconstrictor Agents Phase 4
41 Epinephryl borate Phase 4
42 Anti-Asthmatic Agents Phase 4
43 Bronchodilator Agents Phase 4
44 Sympathomimetics Phase 4
45 Mydriatics Phase 4
46 Cytidine Diphosphate Choline Phase 4
47 Narcotic Antagonists Phase 4
48 Analgesics Phase 4
49 Antidepressive Agents Phase 4
50 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 631)
# Name Status NCT ID Phase Drugs
1 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy. Multi-Center, Randomized Placebo Controlled Trial Unknown status NCT00123136 Phase 4
2 Treatment With Gamunex 10% Intravenous Immunoglobulin (IVIg) for Patients With Demyelination and Diabetes Mellitus: A Blinded, Placebo-Controlled Crossover Pilot Study Unknown status NCT02372149 Phase 4 10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
3 The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair Unknown status NCT02419443 Phase 4 Gabapentin;Placebo
4 Efficacy of Administration of Angiotensin Converting Enzyme Inhibition on Autonomic and Peripheral Neuropathy in Patients With Diabetes Mellitus Completed NCT03031834 Phase 4 Quinapril
5 An Open Label Extension Safety Trial of Pregabalin (CI-1008) in Subjects With Diabetic Peripheral Neuropathy Completed NCT00159731 Phase 4 Pregabalin
6 A 14-Week, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study To Evaluate The Safety And Efficacy Of Pregabalin (150mg-600mg/Day) Using A Flexible Optimal Dose Schedule In Patients With Painful Diabetic Peripheral Neuropathy (DPN). Completed NCT00156078 Phase 4 pregabalin
7 A Randomized, Single-dose, Parallel-group Study to Evaluate the Pharmacokinetic Profiles of Two Formulation of Pregabalin in Healthy Volunteers Under Fasting Conditions Completed NCT03712475 Phase 4 Pregabalin
8 A 13 Week, Double-Blind, Placebo-Controlled Phase 4 Trial of Pregabalin (CI-1008, 600 mg/Day) for Relief of Pain in Subjects With Painful Diabetic Peripheral Neuropathy Completed NCT00159679 Phase 4 Pregabalin
9 A Multicenter Trial Evaluating the Safety and Efficacy of Cesamet™ for the Symptomatic Treatment of Chemotherapy-Induced Neuropathic Pain in Patients With Cancer Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
10 A Multicenter Trial Evaluating the Efficacy of Cesamet™ for the Symptomatic Treatment of Pain in Patients With Diabetic Peripheral Neuropathy Completed NCT00380913 Phase 4 Cesamet™ (nabilone)
11 An Open-label, Randomized, Multi-center Clinical Trial to Evaluate the Safety and Efficacy in Peripheral Neuropathies Patients Treated With Mecobalamin Injection Completed NCT01192113 Phase 4 Mecobalamin IV Injection;Mecobalamin IM injection;Mecobalamin IV or IM injection
12 Efficacy and Safety of Pregabalin in an Open-label, Non-comparative, Flexible-dose Trial With Diabetic Peripheral Neuropathy or Postherpetic Neuralgia Completed NCT00629681 Phase 4 Pregabalin
13 A 24 Week, Double-blind, Placebo-controlled, Multisite Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
14 Evaluation of a Structured Algorithm for Intrathecal Bolus Doses of Ziconotide (Prialt®)- The Swedish Ziconotide Bolus Study Completed NCT01373983 Phase 4 Ziconotide
15 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy by Comparing the Change of HRV Index & ANS Function:A 6month Multicenter, Randomized, Open Label Clinical Trial CANON Study Completed NCT02056366 Phase 4 α-lipoic acid
16 Comparison of the Analgesic Effect of the Local Anesthetics Ropicacaine, Levobupivacaine, and Levobupivacaine + Epinephrin Via Interscalene Nerve Block in Patients Undergoing Shoulder Arthroscopy Under General Anesthesia Completed NCT02691442 Phase 4 Ropivacaine 0.75%;Levobupivacaine 0.5%;Levobupivacaine 0.5% + epinephrin 1/200000
17 A Phase IV Clinical Trial. Effect of Pulsing Electromagnetic Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
18 A Randomized, Double-Blind, Placebo-Controlled, Single Center Study Designed to Assess the Effects of Pregabalin on Change in Patients With Diabetic Neuropathy Completed NCT00573261 Phase 4 Pregabalin;Placebo
19 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
20 High-dose Vitamin D Supplementation Reduces Inflammation and Improves Microcirculation in Patients With Diabetic Peripheral Neuropathy Completed NCT04377399 Phase 4 Vitamin D
21 Long Term, Double Blind, Randomized, Placebo Controlled Multi-center Study of FRE.M.S.- Frequency Modulated Neural Stimulation Lorenz Therapy™ in Symptomatic Diabetic Neuropathy Completed NCT01628627 Phase 4
22 A Multicenter, Phase IV, Interventional Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Chemotherapy-Induced Peripheral Neuropathy Who Need Opioid Combination Treatment With Existing Pregabalin Treatment Completed NCT01675531 Phase 4 Targin
23 Comparison of the Effectiveness and Safety Between Tramadol 37.5 Mg/Acetaminophen 325mg And Gabapentin for The Treatment of Painful Diabetic Neuropathy: Multicenter, Randomized, Open Comparative Study Completed NCT00634543 Phase 4 Tramadol hydrochloride/ Acetaminophen;Gabapentin
24 Neuroprotective Effect of Vitamin B12 and Vitamin B6 Against Vincristine Induced Peripheral Neuropathy: A Randomized, Double Blind, Placebo Controlled, Multi Center Trial Completed NCT02923388 Phase 4 Injection Mecobalamin,;Tablet Pyridoxine hydrochloride;Intravenous normal saline 1 ml;Placebo pill
25 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) : Pattern Electroretinography Study Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
26 Efficacy of Pregabalin and Duloxetine in Patients With Painful Diabetic Peripheral Neuropathy (PDPN): the Effect of Pain on Cognitive Function, Sleep and Quality of Life (BLOSSOM) Recruiting NCT04246619 Phase 4 Pregabalin;Duloxetine
27 Phase 4 Study of Tapentadol vs Oxycodone in Neuropathic Pain Terminated NCT01458015 Phase 4 tapentadol, oxycodone
28 A Double-blind, Placebo-controlled, Cross-over Study of Ranolazine in Patients With Coronary Artery Disease for the Treatment of Painful Polyneuropathy Terminated NCT00832572 Phase 4 Ranolazine;Placebo
29 Prospective Case Crossover Study to Assess Whether PDE5 Inhibitor Exposure in Men Increases the Risk for the Development of Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Terminated NCT00867815 Phase 4 Diagnostic procedures
30 A Randomized, Double-Blind, Placebo-Controlled Trial Of The Prevention And Treatment Of Chemotherapy-Induced Peripheral Neuropathy Symptoms In Subjects With Advanced Colorectal Cancer Terminated NCT00380874 Phase 4 Pregabalin;Placebo
31 Pilot Study of L-Carnitine Supplementation in the Prevention of Chemotherapy-induced Peripheral Neuropathy in Women With Metastatic Breast Cancer Terminated NCT00754767 Phase 4 L-carnitine L-tartrate
32 Precision Spinal Cord Stimulation for Painful Diabetic Neuropathy Terminated NCT00487981 Phase 4
33 Phase 3 Study to Evaluate Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients. Unknown status NCT00872352 Phase 3
34 Study of Topical Preparation of Capsaicin Nanoparticle in Patient With Painful Diabetic Neuropathy Unknown status NCT01125215 Phase 2, Phase 3 0.75% capsaicin nanoparticle cream;Placebo
35 The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy in Colorectal Cancer Patients. Randomized Trial Unknown status NCT02024191 Phase 3
36 The Evaluation of Safety and Efficacy of JWHGWT on Diabetic Neuropathy Unknown status NCT00886665 Phase 3 placebo;JWHGWT
37 A Randomized Controlled Trial of Mammalian Omega 3 With Vitamin D3 in Patients at Risk of Chemotherapy Induced Peripheral Neuropathy. Unknown status NCT02294149 Phase 3 mammalian Omega 3 Fatty acids;placebo
38 Huo JieGe, Doctor of Medicine,Professor of Medicine,Professor of Medical Science. Unknown status NCT02590367 Phase 2, Phase 3 FOLFOX regimen;HD6610 Granule;HD6610 Granule placebo
39 A Randomized, Sham-Controlled Clinical Study to Evaluate The Effect of the Magnetic Molecular Energizer (MME) on Diabetic Peripheral Neuropathy Unknown status NCT00134524 Phase 3
40 Randomized, Assessor- and Participant-blinded, Controlled, and Parallel-design Approach to Investigate Whether Acupuncture Can Prevent or Postpone the Occurrence of Peripheral Neuropathy and Improve Quality of Life. Unknown status NCT02744274 Phase 3
41 A Randomized, Double-Blind, Controlled Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00068081 Phase 3 Capsaicin Dermal Patch
42 An Open-Label, Extension Safety and Efficacy Study of Pregabalin in Patients With Painful Diabetic Peripheral Neuropathy. Completed NCT00150423 Phase 3 Pregabalin
43 An Open-Label, Extension Safety and Efficacy Study of Pregabalin in Patients With Painful Diabetic Peripheral Neuropathy. Completed NCT00141401 Phase 3 Pregabalin
44 LY333531 Treatment of Peripheral Neuropathy in Patients With Diabetes Completed NCT00044421 Phase 3 Ruboxistaurin mesylate
45 LY333531 Treatment of Symptomatic Peripheral Neuropathy in Patients With Diabetes Completed NCT00044408 Phase 3 Ruboxistaurin mesylate
46 LY333531 Treatment for Symptomatic Peripheral Neuropathy in Patients With Diabetes Completed NCT00044395 Phase 3 Ruboxistaurin mesylate
47 A Randomized, Double-Blind, Controlled Dose Finding Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00061776 Phase 2, Phase 3 Capsaicin Dermal Patch
48 A 16-week, Randomised, Double-blind, Placebo-controlled, Single-centre Study to Investigate Fluid Retention in Insulin-treated Subjects With Type 2 Diabetes Mellitus and Varying Degrees of Autonomic Neuropathy When Administered Rosiglitazone 4mg Twice Daily Completed NCT00422955 Phase 3 rosiglitazone
49 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multi-Center Trial of Pregabalin Versus Placebo in the Treatment of Neuropathic Pain Associated With Diabetic Peripheral Neuropathy Completed NCT00143156 Phase 3 pregabalin
50 An Open-Label, Extension Safety And Efficacy Trial Of Pregabalin In Subjects With Neuropathic Pain Associated With Human Immunodeficiency Virus (HIV) Neuropathy Completed NCT00264875 Phase 3 pregabalin

Search NIH Clinical Center for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Cochrane evidence based reviews: peripheral nervous system diseases

Genetic Tests for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Genetic tests related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

# Genetic test Affiliating Genes
1 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 29 MYH14

Anatomical Context for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

MalaCards organs/tissues related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

40
Breast, Brain, Spinal Cord, Bone, Skin, Heart, Colon

Publications for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Articles related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

# Title Authors PMID Year
1
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 6 56 61
21480433 2011

Variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

ClinVar genetic disease variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH14 NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)SNV Pathogenic 30739 rs113993956 19:50771512-50771512 19:50268255-50268255
2 MYH14 NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)SNV Conflicting interpretations of pathogenicity 329946 rs556548077 19:50794219-50794219 19:50290962-50290962
3 MYH14 NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)SNV Uncertain significance 329934 rs201515738 19:50781364-50781364 19:50278107-50278107
4 MYH14 NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp)SNV Uncertain significance 587536 rs1568504395 19:50758510-50758510 19:50255253-50255253
5 MYH14 NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)SNV Uncertain significance 634625 rs887619644 19:50752376-50752376 19:50249119-50249119
6 MYH14 NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp)SNV Uncertain significance 816783 19:50789892-50789892 19:50286635-50286635
7 MYH14 NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys)SNV Uncertain significance 816784 19:50812922-50812922 19:50309665-50309665

UniProtKB/Swiss-Prot genetic disease variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

73
# Symbol AA change Variation ID SNP ID
1 MYH14 p.Arg933Leu VAR_066338 rs113993956

Expression for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Search GEO for disease gene expression data for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss.

Pathways for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

GO Terms for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Sources for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

3 CDC
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