ACPHD
MCID: ATX031
MIFTS: 58

Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus (ACPHD)

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

Aliases & Classifications for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

MalaCards integrated aliases for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

Name: Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 57 73 36 29 6 39 71
Hearing Loss 44 39 17
Acphd 57 73
Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome 58
Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome 58
Combined Cerebellar and Peripheral Ataxia-Deafness-Diabetes Mellitus Syndrome 58
Heredodegenerative Disorders, Nervous System 44

Characteristics:

Orphanet epidemiological data:

58
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of diabetes in teenage years
onset of neurologic features is variable, even within the same family (range early childhood to adult)
one likely consanguineous turkish family has been reported (last curated january 2015)


HPO:

31
ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

KEGG : 36 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

MalaCards based summary : Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus, also known as hearing loss, is related to deafness, autosomal dominant 1, with or without thrombocytopenia and pendred syndrome, and has symptoms including gait ataxia An important gene associated with Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus is DNAJC3 (DnaJ Heat Shock Protein Family (Hsp40) Member C3), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs Silver sulfadiazine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and cortex, and related phenotypes are diabetes mellitus and short stature

UniProtKB/Swiss-Prot : 73 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus: A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

More information from OMIM: 616192

Related Diseases for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Diseases related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2292)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1, with or without thrombocytopenia 32.4 MYO7A GJB2
2 pendred syndrome 32.3 MYO7A GJB2
3 sensorineural hearing loss 32.3 PRPS1 MYO7A GJB2
4 deafness, x-linked 2 32.3 PRPS1 GJB2
5 branchiootic syndrome 1 32.2 MYO7A GJB2
6 drug-induced hearing loss 32.1 MYO7A GJB2
7 meniere disease 32.1 MYO7A GJB2
8 deafness, autosomal recessive 9 32.1 MYO7A GJB2
9 deafness, autosomal dominant 6 32.0 MYO7A GJB2
10 deafness, autosomal dominant 9 31.9 MYO7A GJB2
11 nonsyndromic hearing loss 31.8 PRPS1 MYO7A GJB2 CLDN9
12 non-syndromic genetic deafness 31.8 MYO7A GJB2
13 deafness, autosomal recessive 7 31.8 MYO7A GJB2
14 deafness, autosomal dominant 67 31.7 MIR96 GJB2
15 usher syndrome, type ic 31.7 MYO7A GJB2
16 deafness, autosomal dominant 11 31.7 MYO7A GJB2
17 autosomal dominant non-syndromic sensorineural deafness type dfna 31.7 MYO7A MIR96 GJB2
18 labyrinthitis 31.7 MYO7A GJB2
19 deafness, autosomal recessive 1a 31.7 MYO7A GJB2
20 x-linked nonsyndromic deafness 31.6 PRPS1 GJB2
21 usher syndrome, type id 31.6 MYO7A GJB2
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 31.6 MYO7A GJB2
23 deafness, autosomal recessive 12 31.6 MYO7A GJB2
24 autosomal recessive nonsyndromic deafness 3 31.6 MYO7A GJB2
25 usher syndrome, type iia 31.6 MYO7A GJB2
26 deafness, autosomal recessive 2 31.5 MYO7A GJB2
27 deafness, autosomal recessive 3 31.5 MYO7A GJB2
28 autosomal dominant nonsyndromic deafness 31.4 MYO7A MIR96 GJB2
29 deafness, autosomal recessive 29 31.4 GJB2 CLDN9
30 deafness, autosomal recessive 49 31.4 GJB2 CLDN9
31 x-linked charcot-marie-tooth disease 31.3 PRPS1 GJB2
32 dfnb1 31.2 MYO7A GJB2
33 middle ear disease 30.8 MIR96 GJB2
34 inner ear disease 30.7 MYO7A MIR96 GJB2
35 auditory system disease 30.6 MYO7A MIR96 GJB2
36 keratitis, hereditary 30.4 MYO7A GJB2
37 autosomal recessive nonsyndromic deafness 30.4 MYO7A MIR96 GJB2
38 usher syndrome type 2 29.9 MYO7A GJB2
39 vestibular disease 29.9 MYO7A GJB2
40 peripheral vertigo 29.6 MYO7A GJB2
41 hearing loss, noise-induced 11.7
42 sudden sensorineural hearing loss 11.7
43 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.7
44 age-related hearing loss 11.7
45 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.7
46 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 11.7
47 camptodactyly, tall stature, and hearing loss syndrome 11.7
48 cone-rod dystrophy and hearing loss 1 11.6
49 congenital cataracts, hearing loss, and neurodegeneration 11.6
50 keratoderma, palmoplantar, with deafness 11.6

Graphical network of the top 20 diseases related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:



Diseases related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus

Symptoms & Phenotypes for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Human phenotypes related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
2 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
3 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
4 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
5 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
6 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
7 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
8 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
9 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
10 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
11 atrophy of the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0006827
12 areflexia of lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002522
13 sensory ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0010871
14 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
15 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
16 cognitive impairment 31 occasional (7.5%) HP:0100543
17 sensorineural hearing impairment 31 HP:0000407
18 type i diabetes mellitus 31 HP:0100651
19 areflexia 31 HP:0001284
20 peripheral neuropathy 31 HP:0009830

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Height:
short stature

Head And Neck Ears:
sensorineural hearing loss

Growth Weight:
low body mass index

Neurologic Central Nervous System:
gait ataxia
cerebellar atrophy
cerebral atrophy
spinal cord atrophy
brainstem atrophy
more
Endocrine Features:
insulin-dependent diabetes mellitus

Neurologic Peripheral Nervous System:
demyelinating sensorimotor peripheral neuropathy
areflexia of the lower limbs decreased nerve conduction velocities

Clinical features from OMIM®:

616192 (Updated 05-Mar-2021)

UMLS symptoms related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:


gait ataxia

Drugs & Therapeutics for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Drugs for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 199)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Phenol Approved, Experimental Phase 4 108-95-2 996
6
Thymol Approved Phase 4 89-83-8 6989
7
Glycerol Approved, Investigational Phase 4 56-81-5 753
8
Ethanol Approved Phase 4 64-17-5 702
9
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
10
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
11
Citalopram Approved Phase 4 59729-33-8 2771
12
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
13
Norepinephrine Approved Phase 4 51-41-2 439260
14
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
15 Anti-Inflammatory Agents Phase 4
16 Gastrointestinal Agents Phase 4
17 Hormones Phase 4
18 Hormone Antagonists Phase 4
19 glucocorticoids Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 Antiemetics Phase 4
22 BB 1101 Phase 4
23 HIV Protease Inhibitors Phase 4
24
protease inhibitors Phase 4
25 Dexamethasone 21-phosphate Phase 4
26 Analgesics Phase 4
27 Respiratory System Agents Phase 4
28 Antiviral Agents Phase 4
29 N-monoacetylcystine Phase 4
30 Expectorants Phase 4
31 Calcium, Dietary Phase 4
32 calcium channel blockers Phase 4
33 Diphosphonates Phase 4
34 Neurotransmitter Agents Phase 4
35 Ginkgo Phase 4
36 Dopamine Agents Phase 4
37 Antidepressive Agents Phase 4
38 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
39 Psychotropic Drugs Phase 4
40 Duloxetine Hydrochloride Phase 4
41 Serotonin Uptake Inhibitors Phase 4
42
Calcium Nutraceutical Phase 4 7440-70-2 271
43
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
44
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
45
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
46
Dexlansoprazole Approved, Investigational Phase 2, Phase 3 138530-94-6, 103577-45-3 9578005
47
Lansoprazole Approved, Investigational Phase 2, Phase 3 103577-45-3 3883
48
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
49 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
50
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0

Interventional clinical trials:

(show top 50) (show all 697)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
3 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
4 Development of Auditory Skills in Young Deaf Children With Bilateral Cochlear Implants Unknown status NCT00424307 Phase 4
5 Evaluation of Benefit for Treatment of Single Sided Deafness (SSD) Between Two Bone Conduction Prosthetic Devices; Osseointegrated Implant Versus Maxilla Anchored Removable Oral Appliance ("SoundBite") Unknown status NCT01933386 Phase 4
6 Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study Completed NCT01054378 Phase 4
7 Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System Completed NCT00205881 Phase 4
8 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment. Completed NCT01372904 Phase 4 Dexamethasone Phosphate
9 Randomized, Placebo-Controlled Evaluation of Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal Completed NCT00765635 Phase 4 drops intilation (Taponoto ® );drops intilation (Otocerum®);drops intilation (Placebo)
10 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
11 Clinical Trial: Intratympanic Injection of N-acetylcysteine for Protection of Cisplatin-induced Ototoxicity Recruiting NCT04226456 Phase 4 N-acetyl cysteine
12 The Effect of Positive Airway Pressure on Idiopathic Sudden Sensorineural Hearing Loss Comorbided With Obstructive Sleep Apnea: A Clinical Randomized Controlled Study Recruiting NCT04192656 Phase 4 Methylprednisolone Hemisuccinate;Ginaton
13 Sensation and Psychiatry: Linking Age-Related Hearing Loss to Late-Life Depression and Cognitive Decline Recruiting NCT03321006 Phase 4 Duloxetine or escitalopram
14 A Phase IV, Single-center Study of the Benefits of the Advanced Bionics Naída CI Q90 Acoustic Earhook in Adults Cochlear Implant Recipients. Withdrawn NCT04041596 Phase 4
15 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
16 The Leiden CONCERT Study 2.0 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Non-Randomized Trial With Historical Control Group Unknown status NCT02005822 Phase 3 Valganciclovir
17 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
18 Clinical Trial on Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery: The Cochlea as a Capacitor Unknown status NCT03374514 Phase 3 Dexamethasone;Sterile isotonic saline solution
19 Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation Unknown status NCT00789061 Phase 2, Phase 3 Proton pump inhibitor
20 Tinnitus Retraining Therapy Trial Completed NCT01177137 Phase 3
21 Efficacy and Safety of AM-111 in the Treatment of Acute Inner Ear Hearing Loss Completed NCT02561091 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
22 Evaluation of a Binaural Spatialization Method for Hearing Aids, in Terms of Speech Intelligibility, Speaker Localization and Subjective Preference. Completed NCT02693704 Phase 2, Phase 3
23 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
24 A Prospective, Randomized, Double Blind, Placebo Controlled, Multicenter Study on the Safety and Efficacy of Continuous Infusion of Corticosteroid Delivered Via Catheter in Patients With Idiopathic Sudden Sensorineural Hearing Loss Completed NCT00335920 Phase 3 Dexamethasone-dihydrogenphosphate (4mg/ml)
25 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
26 A Phase III Multicenter, Double-blind, Placebo-controlled, Study Evaluating the Safety, and Efficacy of STR001 Treatment in Adults With Sudden Sensorineural Hearing Loss Completed NCT03331627 Phase 3 STR001-IT and STR001-ER
27 Combining Exercise and Cognitive Training to Improve Everyday Function Completed NCT01603784 Phase 3
28 Effectiveness of Transtympanic Steroids in Unilateral Ménière's Disease: a Randomised Controlled Double-Blind Trial Completed NCT00802529 Phase 2, Phase 3 Methylprednisolone;Gentamicin
29 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
30 A Two-part, Randomized, Double-blind, Placebo-controlled, Parallel-group, Efficacy and Safety Study of SENS-401 in Subjects With Severe or Profound Sudden Sensorineural Hearing Loss Recruiting NCT03603314 Phase 2, Phase 3 SENS-401;SENS-401
31 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Safety and Efficacy of SPI-1005 in Meniere's Disease and Open Label Extension Study to Evaluate the Chronic Safety of SPI-1005 Not yet recruiting NCT04677972 Phase 3 Ebselen;Placebo
32 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
33 Efficacy and Safety of AM-111 as Acute Sudden Sensorineural Hearing Loss Treatment Terminated NCT02809118 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
34 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
35 Phase 3 Clinical Trial: D-methionine to Reduce Noise-Induced Hearing Loss (NIHL) Terminated NCT02903355 Phase 3 D-methionine;Placebo
36 Interest of the Bilateral Cochlear Implantation in the Deep Deaf Children Respect to the Unilateral Implantation - a Randomized Test Withdrawn NCT01499901 Phase 3
37 Transtympanic Administration of Lactate: An Innovative Otoprotection for Patients Receiving Cisplatin or Carboplatin Chemotherapy Unknown status NCT01108601 Phase 1, Phase 2 Ringer's Lactate (0.03% Ciprofloxacin)
38 Effectiveness of NECTEC Model, Body-worn, Digital Hearing Aids and Cost of Screening and Hearing Aids Service in Elders Unknown status NCT01902914 Phase 1, Phase 2
39 Safety and Efficacy Study of SPI-1005 for Prevention of Chemotherapy Induced Hearing Loss Unknown status NCT01451853 Phase 2 SPI-1005 Low Dose;SPI-1005 Middle Dose;SPI-1005 High Dose;Placebo
40 Antioxidation Medication for Noise-induced Hearing Loss Completed NCT00552786 Phase 2 N-acetylcysteine (NAC);glucose
41 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
42 Phase 1b Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of SPI-1005 in Meniere's Disease Completed NCT02603081 Phase 1, Phase 2 SPI-1005
43 A Balanced, Randomized, Placebo-Controlled, Double-Blind Study of the Efficacy and Safety of AUT00063 Versus Placebo in Age-Related Hearing Loss [CLARITY-1 Study] Completed NCT02345031 Phase 2 AUT00063;Placebo
44 A Three-part, Multicenter, Open Label, Single Dose Study to Assess the Safety, Tolerability, and Efficacy of Intra Labyrinthine (IL) CGF166 in Patients With Severe-to-profound Hearing Loss Completed NCT02132130 Phase 1, Phase 2 CGF166
45 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
46 Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss Completed NCT02038972 Phase 1, Phase 2
47 Double-blind, Randomized, Placebo-controlled Study on Efficacy, Safety and Tolerability of Ancrod in Patients With Sudden Sensorineural Hearing Loss (SSHL) Completed NCT01621256 Phase 1, Phase 2 Ancrod;Saline solution
48 A Phase 2A Randomized, Placebo Controlled, Double Blind Study of the Protective Effects of EPI-743 (VincerinoneTM) on Noise-Induced Hearing Loss Completed NCT02257983 Phase 2 EPI-743;Placebo
49 Micronutrient Intervention to Reduce Noise-Induced Hearing Loss: Prevention of Temporary Threshold Changes Induced by Use of a Digital Music Player Completed NCT00808470 Phase 2 beta-carotene, vitamins C and E, magnesium
50 Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss: A Multi-Centre, Double-Blind, Randomised, Placebo-Controlled, Dose-Escalation Phase II Study Completed NCT00802425 Phase 2 AM-111;placebo

Search NIH Clinical Center for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus

Cochrane evidence based reviews: heredodegenerative disorders, nervous system

Genetic Tests for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Genetic tests related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

# Genetic test Affiliating Genes
1 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 29 DNAJC3

Anatomical Context for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

MalaCards organs/tissues related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

40
Bone, Brain, Cortex, Kidney, Eye, Heart, Skin

Publications for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Articles related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

(show top 50) (show all 30001)
# Title Authors PMID Year
1
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. 61 6 57
25466870 2014
2
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 61 47
19363479 2009
3
Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. 57
15793246 2005
4
A case of peritoneal dialysis in which SARS-CoV-2 was diagnosed by sudden hearing loss. 61
33550902 2021
5
Treatment outcomes of drug resistant tuberculosis patients with multiple poor prognostic indicators in Uganda: A countrywide 5-year retrospective study. 61
33553682 2021
6
Clinical genetics, practice, and research of deafblindness: From uncollected experiences to the national registry in Japan. 61
32859446 2021
7
Risk factors for bacterial infection to cause sensorineural hearing loss in eosinophilic otitis media. 61
32883575 2021
8
A double-blind, randomized controlled trial exploring the efficacy of frequency lowering hearing aids in patients with high-frequency hearing loss. 61
32891496 2021
9
Cochlear implantation in patient with Charcot-Marie-Tooth disease. 61
32265048 2021
10
The relationship between chronic exposure to arsenic through drinking water and hearing function in exposed population aged 10-49 years: A cross-sectional study. 61
33476847 2021
11
Hyperacusis in tinnitus patients relates to enlarged subcortical and cortical responses to sound except at the tinnitus frequency. 61
33421659 2021
12
Effect of Cochlear Implantation on the Endocochlear Potential and Stria Vascularis. 61
33555749 2021
13
Molecular simulation of the Kv7.4[ΔS269] mutant channel reveals that ion conduction in the cavity is perturbed due to hydrophobic gating. 61
33367117 2021
14
Localizing Thalamomesencephalic Afferent and Efferent Pupillary Defects. 61
32028453 2021
15
Evaluation of Vibrant® Soundbridge™ positioning and results with laser doppler vibrometry and the finite element model. 61
33603869 2021
16
Objective improvement in adults with cerebellopontine angle arachnoid cysts after surgical treatment. 61
33511461 2021
17
Cortical potentials evoked by tone frequency changes compared to frequency discrimination and speech perception: Thresholds in normal-hearing and hearing-impaired subjects. 61
33387905 2021
18
Measurement Properties of the Hearing Environments and Reflection of Quality of Life (HEAR-QL) 28-item Questionnaire in Cholesteatoma. 61
33351565 2021
19
Clinical Utility of Intraoperative Electrocochleography (ECochG) During Cochlear Implantation: A Systematic Review and Quantitative Analysis. 61
33347054 2021
20
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss. 61
33552643 2021
21
Correlations between cochlear pathophysiology and behavioral measures of temporal and spatial processing in noise exposed macaques. 61
33373804 2021
22
Chloroquine, Hydroxychloroquine and Hearing Loss: A Study in Systemic Lupus Erythematosus Patients. 61
32603516 2021
23
Is Unilateral Cochlear Implantation Cost-Effective for the Treatment of Bilateral Sensorineural Hearing Loss? 61
32339258 2021
24
Morphological comparison of internal auditory canal diverticula in the presence and absence of otospongiosis on computed tomography and their impact on patterns of hearing loss. 61
33210164 2021
25
The Association Between Early Age-Related Hearing Loss and Brain β-Amyloid. 61
32644260 2021
26
Cochlear Implantation in Candidates With Moderate-to-Severe Hearing Loss and Poor Speech Perception. 61
32484949 2021
27
Validation of a Parent Proxy Quality-of-Life Measure for Young Children With Hearing Loss. 61
32668032 2021
28
Tinnitus Is Associated With Extended High-frequency Hearing Loss and Hidden High-frequency Damage in Young Patients. 61
33196532 2021
29
Mismatched response predicts behavioral speech discrimination outcomes in infants with hearing loss and normal hearing. 61
33481354 2021
30
Cool OtOprotective Ear Lumen (COOL) Therapy for Cisplatin-induced Hearing Loss. 61
33351563 2021
31
Cytology of a temporal swelling in a young adult with unilateral conductive hearing loss. 61
33040405 2021
32
Loss of high- or low-frequency audibility can partially explain effects of hearing loss on emotional responses to non-speech sounds. 61
33360158 2021
33
Long-Term Outcomes of Cochlear Implantation in Irradiated Ears of Nasopharyngeal Carcinoma Patients. 61
32815553 2021
34
Failure and Revision Surgery After Cochlear Implantation in the Adult Population: A 10-year Single-institution Retrospective and Systematic Review of the Literature. 61
33351564 2021
35
Cochlear Implantation and Electric Acoustic Stimulation in Children With TMPRSS3 Genetic Mutation. 61
33555745 2021
36
Glomerular involvement in children with H syndrome. 61
33387019 2021
37
Clinical Feature and Prognosis of Sudden Sensorineural Hearing Loss With Rheumatoid Arthritis. 61
33021510 2021
38
Spontaneous extracranial arterial dissections in a case of patient with osteogenesis imperfecta. 61
32138586 2021
39
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency). 61
33532242 2021
40
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. 61
33300174 2021
41
Application of the new SMS system of cochleovestibular anomalies: our experience with nine cases of type III anomaly. 61
32529401 2021
42
Identification of Perinatal Risk Factors for Auditory Neuropathy Spectrum Disorder. 61
32609896 2021
43
Effects of Smoking on the Auditory System: Is There a Gender Difference? 61
31547698 2021
44
Word and Nonword Reading Efficiency in Postlingually Deafened Adult Cochlear Implant Users. 61
33306660 2021
45
Analysis of cochlear implant revision surgeries. 61
32556785 2021
46
Assessment of occupational personal sound exposures for music instructors. 61
33507840 2021
47
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. 61
33437642 2021
48
The Prevalence of Hearing, Vision, and Dual Sensory Loss in Older Canadians: An Analysis of Data from the Canadian Longitudinal Study on Aging. 61
32546290 2021
49
Attitudes of Potential Participants Towards Potential Gene Therapy Trials in Autosomal Dominant Progressive Sensorineural Hearing Loss. 61
33555744 2021
50
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice. 61
33421658 2021

Variations for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

ClinVar genetic disease variations for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A2 NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) SNV association 804307 rs1581138944 5:127512808-127512808 5:128177116-128177116
2 SLC12A2 NM_001046.3(SLC12A2):c.2930-2A>G SNV association 804308 rs1581138932 5:127512795-127512795 5:128177103-128177103
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) SNV association 804309 rs1581138965 5:127512829-127512829 5:128177137-128177137
4 SLC12A2 NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) SNV association 804310 rs1581138934 5:127512802-127512802 5:128177110-128177110
5 DNAJC3 NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter) SNV Pathogenic 162620 rs727502865 13:96412327-96412327 13:95760073-95760073
6 GJB2 NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) SNV Pathogenic 44760 rs397516878 13:20763150-20763150 13:20189011-20189011
7 GJB2 NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) Indel Pathogenic 44761 rs111033335 13:20763121-20763129 13:20188982-20188990
8 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
9 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
10 GJB2 NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) SNV Pathogenic 44725 rs111033297 13:20763552-20763552 13:20189413-20189413
11 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
12 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
13 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs) Duplication Pathogenic 177737 rs730880338 13:20763451-20763452 13:20189312-20189313
14 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269
15 GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) Deletion Pathogenic 189051 rs756484720 13:20763386-20763387 13:20189247-20189248
16 DNAJC6 NM_001256864.2(DNAJC6):c.801-2A>G SNV Pathogenic 88854 rs398122404 1:65851393-65851393 1:65385710-65385710
17 GJB2 NM_004004.6(GJB2):c.-23G>T SNV Pathogenic 189155 rs786204734 13:20766922-20766922 13:20192783-20192783
18 GJB2 NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) SNV Pathogenic 21389 rs80338941 13:20763665-20763665 13:20189526-20189526
19 GJB2 NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) SNV Pathogenic 371766 rs1057517519 13:20763662-20763662 13:20189523-20189523
20 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic 17020 rs28931594 13:20763573-20763573 13:20189434-20189434
21 GJB2 NM_004004.6(GJB2):c.196G>C (p.Asp66His) SNV Pathogenic 17012 rs104894403 13:20763525-20763525 13:20189386-20189386
22 GJB2 NM_004004.6(GJB2):c.298C>T (p.His100Tyr) SNV Pathogenic 158607 rs143343083 13:20763423-20763423 13:20189284-20189284
23 GJB2 NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) SNV Pathogenic 560668 rs375759781 13:20763247-20763247 13:20189108-20189108
24 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) SNV Pathogenic 560669 rs998045226 13:20763171-20763171 13:20189032-20189032
25 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224
26 GJB2 NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) SNV Pathogenic 44742 rs111033295 13:20763356-20763356 13:20189217-20189217
27 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 13:20763351-20763351 13:20189212-20189212
28 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
29 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
30 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
31 GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) SNV Pathogenic 29662 rs80338950 13:20763170-20763170 13:20189031-20189031
32 DNAJC3 NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) SNV Pathogenic 429787 rs1131691593 13:96438294-96438294 13:95786040-95786040
33 MYO7A NM_000260.4(MYO7A):c.1563del (p.Asp521fs) Deletion Pathogenic 419644 rs1064794012 11:76873907-76873907 11:77162861-77162861
34 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
35 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
36 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
37 GJB2 NM_004004.6(GJB2):c.35dup (p.Val13fs) Duplication Pathogenic 94392 rs80338939 13:20763685-20763686 13:20189546-20189547
38 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
39 CAPN15 NM_005632.2:c.2904+1_2905-45del Deletion Likely pathogenic 929503
40 MYO7A NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) SNV Likely pathogenic 43206 rs199897298 11:76895733-76895733 11:77184688-77184688
41 PRPS1 NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro) SNV Likely pathogenic 446164 rs867288458 X:106888517-106888517 X:107645287-107645287
42 GJB2 NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) SNV Likely pathogenic 560666 rs104894402 13:20763498-20763498 13:20189359-20189359
43 GJB2 NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) SNV Likely pathogenic 499513 rs111033190 13:20763626-20763626 13:20189487-20189487
44 CLDN9 NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) Duplication Likely pathogenic 977488 16:3063730-3063731 16:3013729-3013730
45 PRPS1 NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) SNV Likely pathogenic 446163 rs1556300621 X:106888516-106888516 X:107645286-107645286
46 ATOH1 NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly) SNV Uncertain significance 873538 4:94750558-94750558 4:93829407-93829407
47 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) SNV Uncertain significance 188488 rs150529554 13:20763366-20763366 13:20189227-20189227
48 GJB2 NM_004004.6(GJB2):c.226C>G (p.Leu76Val) SNV Uncertain significance 560667 rs1566528748 13:20763495-20763495 13:20189356-20189356
49 GJB2 NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) SNV Uncertain significance 560670 rs1451982228 13:20763161-20763161 13:20189022-20189022
50 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Uncertain significance 17000 rs35887622 13:20763620-20763620 13:20189481-20189481

Copy number variations for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 125352 19 13800000 16100000 Microdeletion ADGRE5 Hearing loss
2 125358 19 13800000 16100000 Microdeletion DDX39A Hearing loss
3 125364 19 13800000 16100000 Microdeletion GIPC1 Hearing loss
4 125370 19 13800000 16100000 Microdeletion ADGRL1 Hearing loss
5 125376 19 13800000 16100000 Microdeletion PKN1 Hearing loss
6 125382 19 13800000 16100000 Microdeletion PTGER1 Hearing loss
7 207179 6 152600000 160900000 Deletion Hearing loss

Expression for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Search GEO for disease gene expression data for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus.

Pathways for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Pathways related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Biological processes related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 8.62 MYO7A GJB2

Sources for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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