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 72 36 29 6 39 70
Hearing Loss 44 39 17
Acphd 57 72
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-Apr-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 Cisplatin 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 : 72 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 2329)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1, with or without thrombocytopenia 32.4 MYO7A GJB2
2 pendred syndrome 32.4 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 deafness, autosomal recessive 9 32.1 MYO7A GJB2
7 drug-induced hearing loss 32.1 MYO7A GJB2
8 meniere disease 32.1 MYO7A GJB2
9 deafness, autosomal dominant 6 32.1 MYO7A GJB2
10 hereditary hearing loss and deafness 32.0 PRPS1 GJB2
11 non-syndromic genetic deafness 32.0 MYO7A GJB2
12 deafness, autosomal dominant 9 31.9 MYO7A GJB2
13 waardenburg's syndrome 31.9 MYO7A GJB2
14 deafness, autosomal recessive 1a 31.8 MYO7A GJB2
15 nonsyndromic hearing loss 31.8 PRPS1 MYO7A GJB2 CLDN9
16 deafness, autosomal recessive 7 31.8 MYO7A GJB2
17 deafness, autosomal dominant 67 31.8 MIR96 GJB2
18 usher syndrome, type iia 31.7 MYO7A GJB2
19 usher syndrome, type ic 31.7 MYO7A GJB2
20 deafness, autosomal dominant 11 31.7 MYO7A GJB2
21 labyrinthitis 31.7 MYO7A GJB2
22 x-linked nonsyndromic deafness 31.7 PRPS1 GJB2
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 31.7 MYO7A GJB2
24 usher syndrome, type id 31.7 MYO7A GJB2
25 deafness, autosomal recessive 12 31.6 MYO7A GJB2
26 deafness, autosomal recessive 23 31.6 MYO7A GJB2
27 autosomal recessive nonsyndromic deafness 3 31.6 MYO7A GJB2
28 deafness, autosomal recessive 2 31.6 MYO7A GJB2
29 deafness, autosomal recessive 3 31.6 MYO7A GJB2
30 autosomal dominant non-syndromic sensorineural deafness type dfna 31.6 MYO7A MIR96 GJB2
31 autosomal dominant nonsyndromic deafness 31.4 MYO7A MIR96 GJB2
32 deafness, autosomal recessive 29 31.4 GJB2 CLDN9
33 deafness, autosomal recessive 49 31.4 GJB2 CLDN9
34 dfnb1 31.4 MYO7A GJB2
35 x-linked charcot-marie-tooth disease 31.4 PRPS1 GJB2
36 middle ear disease 30.8 MIR96 GJB2
37 inner ear disease 30.7 MYO7A MIR96 GJB2
38 auditory system disease 30.6 MYO7A MIR96 GJB2
39 keratitis, hereditary 30.4 MYO7A GJB2
40 autosomal recessive nonsyndromic deafness 30.4 MYO7A MIR96 GJB2
41 usher syndrome type 2 30.0 MYO7A GJB2
42 vestibular disease 29.9 MYO7A GJB2
43 peripheral vertigo 29.7 MYO7A GJB2
44 hearing loss, noise-induced 11.7
45 sudden sensorineural hearing loss 11.7
46 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.7
47 age-related hearing loss 11.7
48 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.7
49 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 11.7
50 camptodactyly, tall stature, and hearing loss syndrome 11.7

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-Apr-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-Apr-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 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
2
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Phenol Approved, Experimental Phase 4 108-95-2 996
7
Ethanol Approved Phase 4 64-17-5 702
8
Glycerol Approved, Investigational Phase 4 56-81-5 753
9
Thymol Approved Phase 4 89-83-8 6989
10
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
11
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
13
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
15
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
16
Montelukast Approved Phase 4 158966-92-8 5281040
17
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
18
Citalopram Approved Phase 4 59729-33-8 2771
19
Norepinephrine Approved Phase 4 51-41-2 439260
20
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
21
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
22
Dexetimide Withdrawn Phase 4 21888-98-2
23 Pharmaceutical Solutions Phase 4
24
protease inhibitors Phase 4
25 HIV Protease Inhibitors Phase 4
26 Dexamethasone 21-phosphate Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Gastrointestinal Agents Phase 4
29 Neuroprotective Agents Phase 4
30 Analgesics Phase 4
31 Respiratory System Agents Phase 4
32 Diphosphonates Phase 4
33 Hormones Phase 4
34 Antiemetics Phase 4
35 glucocorticoids Phase 4
36 Methylprednisolone Acetate Phase 4
37 Hormone Antagonists Phase 4
38 Antineoplastic Agents, Hormonal Phase 4
39 Neurotransmitter Agents Phase 4
40 Ginkgo Phase 4
41 Anti-Asthmatic Agents Phase 4
42 Leukotriene Antagonists Phase 4
43 Antidepressive Agents Phase 4
44 Dopamine Agents Phase 4
45 Psychotropic Drugs Phase 4
46 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
47 Serotonin Uptake Inhibitors Phase 4
48 Duloxetine Hydrochloride Phase 4
49 Anticholesteremic Agents Phase 4
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 720)
# 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 Development of Auditory Skills in Young Deaf Children With Bilateral Cochlear Implants Unknown status NCT00424307 Phase 4
4 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 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 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
12 Clinical Trial: Intratympanic Injection of N-acetylcysteine for Protection of Cisplatin-induced Ototoxicity Recruiting NCT04226456 Phase 4 N-acetyl cysteine
13 Sensation and Psychiatry: Linking Age-Related Hearing Loss to Late-Life Depression and Cognitive Decline Recruiting NCT03321006 Phase 4 Duloxetine or escitalopram
14 Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere's Disease Recruiting NCT04815187 Phase 4 Montelukast;Placebo
15 Towards a Self-Administered Hearing Protection Regimen Not yet recruiting NCT04826237 Phase 4 Statin;methylprednisolone;dexamethasone;Placebo
16 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
17 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
18 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
19 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
20 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
21 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
22 Tinnitus Retraining Therapy Trial Completed NCT01177137 Phase 3
23 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)
24 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
25 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
26 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
27 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
28 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
29 Effectiveness of Transtympanic Steroids in Unilateral Ménière's Disease: a Randomised Controlled Double-Blind Trial Completed NCT00802529 Phase 2, Phase 3 Methylprednisolone;Gentamicin
30 Combining Exercise and Cognitive Training to Improve Everyday Function Completed NCT01603784 Phase 3
31 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
32 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
33 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
34 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
35 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
36 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
37 Phase 3 Clinical Trial: D-methionine to Reduce Noise-Induced Hearing Loss (NIHL) Terminated NCT02903355 Phase 3 D-methionine;Placebo
38 Interest of the Bilateral Cochlear Implantation in the Deep Deaf Children Respect to the Unilateral Implantation - a Randomized Test Withdrawn NCT01499901 Phase 3
39 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)
40 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
41 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
42 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
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 Antioxidation Medication for Noise-induced Hearing Loss Completed NCT00552786 Phase 2 N-acetylcysteine (NAC);glucose
45 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
46 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
47 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
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 A Phase 1/2 Randomized, Double-blind, Placebo-controlled, Single-dose Study of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss Completed NCT03616223 Phase 1, Phase 2 FX-322;Placebo
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, Skin, Neutrophil

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 30003)
# Title Authors PMID Year
1
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. 61 6 57
25466870 2014
2
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. 61 6
31175426 2019
3
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
4
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 61 47
19363479 2009
5
Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. 57
15793246 2005
6
Progress in free tissue transfer. 6
2256350 1990
7
A case of peritoneal dialysis in which SARS-CoV-2 was diagnosed by sudden hearing loss. 61
33550902 2021
8
Cochlear protection against noise exposure requires serotonin type 3A receptor via the medial olivocochlear system. 61
33811700 2021
9
Treatment outcomes of drug resistant tuberculosis patients with multiple poor prognostic indicators in Uganda: A countrywide 5-year retrospective study. 61
33553682 2021
10
A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. 61
33159669 2021
11
NK/ILC1 cells mediate neuroinflammation and brain pathology following congenital CMV infection. 61
33630019 2021
12
Lmo4 Deficiency Enhances Susceptibility to Cisplatin-Induced Cochlear Apoptosis and Hearing Loss. 61
33411315 2021
13
Environmental exposure to organochlorine pesticides and its association with the risk of hearing loss in the Chinese adult population: A case-control study. 61
33636793 2021
14
Ayme gripp syndrome in an Indian patient. 61
33528093 2021
15
A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype. 61
33710989 2021
16
Identification of homozygous mutations for hearing loss. 61
33524517 2021
17
Deaf and hard of hearing awareness training: A mentor-led workshop. 61
33210421 2021
18
Prevalence and risk factors for cisplatin-induced hearing loss in children, adolescents, and young adults: a multi-institutional North American cohort study. 61
33581749 2021
19
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art. 61
33507440 2021
20
Cochlear Implantation in the Active Duty Military Population: A Survey Assessing Military Readiness and Satisfaction. 61
33351567 2021
21
Cochlear Implantation in Sporadic Vestibular Schwannoma and Other Retrocochlear Pathology: A Case Series. 61
33351558 2021
22
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. 61
33439489 2021
23
[Hearing rehabilitation using a cochlear implant - a way of reducing tinnitus in the elderly]. 61
32575139 2021
24
Identification of early-stage Meniere's disease as a cause of unilateral tinnitus. 61
33777120 2021
25
Which Inner Ear Disorders Lie Behind a Selective Posterior Semicircular Canal Hypofunction on Video Head Impulse Test? 61
33710996 2021
26
Usefulness of the Video Head Impulse Test for the Evaluation of Vestibular Function in Patients With Otitis Media With Antineutrophil Cytoplasmic Antibody-Associated Vasculitis. 61
33306665 2021
27
Risk factors for bacterial infection to cause sensorineural hearing loss in eosinophilic otitis media. 61
32883575 2021
28
Prevalence of hearing loss in school aged Nepalese children. 61
33636508 2021
29
Clinical trials in otology: Examining trends and framework for prioritization. 61
33777122 2021
30
Otologic Manifestations of Eosinophilic Granulomatosis With Polyangiitis: A Systematic Review. 61
33534386 2021
31
Immediate changes in transcription factors and synaptic transmission in the cochlea following acoustic trauma: A gene transcriptome study. 61
32417196 2021
32
Speech perception 30 years after cisplatin-based chemotherapy in adults: limited clinical relevance of long-term ototoxicity? 61
33617403 2021
33
Prevalence of Depression and Anxiety in Adolescents With Hearing Loss. 61
33347049 2021
34
Successful Treatment with Rituximab for Granulomatosis with Polyangiitis and Multiple Cranial Neuropathies. 61
33132328 2021
35
Effect of hearing aids on attention, memory, and auditory evoked potentials: A pragmatic, single-blinded, and randomised pilot clinical trial. 61
33345388 2021
36
Cochlea sparing optimized radiotherapy for nasopharyngeal carcinoma. 61
33794949 2021
37
Hearing Impairment and the Amelioration of Avoidable Medical Error: A Cross-Sectional Survey. 61
28212161 2021
38
Vibration-induced nystagmus and head impulse test screening for vestibular schwannoma. 61
33583327 2021
39
Residual Hair Cell Responses in Electric-Acoustic Stimulation Cochlear Implant Users with Complete Loss of Acoustic Hearing After Implantation. 61
33538936 2021
40
Mass spectrometry imaging of blast overpressure induced modulation of GABA/glutamate levels in the central auditory neuraxis of Chinchilla. 61
33453279 2021
41
Radiotherapy of extraosseous nasopharyngeal chordoma: A case report and literature review. 61
33758665 2021
42
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin. 61
33763535 2021
43
Chronic otorrhoea, otalgia and hearing loss not responding to antibiotics and tympanoplasty surgery. 61
33811095 2021
44
Local Control After Proton Therapy for Pediatric Chordoma. 61
33253819 2021
45
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene. 61
33356723 2021
46
Directed differentiation and direct reprogramming: Applying stem cell technologies to hearing research. 61
33378797 2021
47
Is Menière's Disease a Contraindication to Stapedectomy? 61
33710988 2021
48
Comparative Performance of Lateral Wall and Perimodiolar Cochlear Implant Arrays. 61
33710993 2021
49
Clinical genetics, practice, and research of deafblindness: From uncollected experiences to the national registry in Japan. 61
32859446 2021
50
Effects of Presentation Level on Spatial Hearing With and Without Bone-Conduction Amplification in Congenital Unilateral Aural Atresia. 61
33351560 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 Position
1 SLC12A2 NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) SNV association 804307 rs1581138944 GRCh37: 5:127512808-127512808
GRCh38: 5:128177116-128177116
2 SLC12A2 NM_001046.3(SLC12A2):c.2930-2A>G SNV association 804308 rs1581138932 GRCh37: 5:127512795-127512795
GRCh38: 5:128177103-128177103
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) SNV association 804309 rs1581138965 GRCh37: 5:127512829-127512829
GRCh38: 5:128177137-128177137
4 SLC12A2 NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) SNV association 804310 rs1581138934 GRCh37: 5:127512802-127512802
GRCh38: 5:128177110-128177110
5 GJB2 NM_004004.6(GJB2):c.196G>C (p.Asp66His) SNV Pathogenic 17012 rs104894403 GRCh37: 13:20763525-20763525
GRCh38: 13:20189386-20189386
6 GJB2 NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) SNV Pathogenic 560668 rs375759781 GRCh37: 13:20763247-20763247
GRCh38: 13:20189108-20189108
7 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) SNV Pathogenic 560669 rs998045226 GRCh37: 13:20763171-20763171
GRCh38: 13:20189032-20189032
8 DNAJC6 NM_001256864.2(DNAJC6):c.801-2A>G SNV Pathogenic 88854 rs398122404 GRCh37: 1:65851393-65851393
GRCh38: 1:65385710-65385710
9 DNAJC3 NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter) SNV Pathogenic 162620 rs727502865 GRCh37: 13:96412327-96412327
GRCh38: 13:95760073-95760073
10 GJB2 NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) SNV Pathogenic 21389 rs80338941 GRCh37: 13:20763665-20763665
GRCh38: 13:20189526-20189526
11 GJB2 NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) SNV Pathogenic 371766 rs1057517519 GRCh37: 13:20763662-20763662
GRCh38: 13:20189523-20189523
12 MYO7A NM_000260.4(MYO7A):c.1563del (p.Asp521fs) Deletion Pathogenic 419644 rs1064794012 GRCh37: 11:76873907-76873907
GRCh38: 11:77162861-77162861
13 GJB2 NM_004004.6(GJB2):c.35dup (p.Val13fs) Duplication Pathogenic 94392 rs80338939 GRCh37: 13:20763685-20763686
GRCh38: 13:20189546-20189547
14 GJB2 NM_004004.6(GJB2):c.298C>T (p.His100Tyr) SNV Pathogenic 158607 rs143343083 GRCh37: 13:20763423-20763423
GRCh38: 13:20189284-20189284
15 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
16 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
17 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
18 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
19 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
20 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
21 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
22 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
23 GJB2 NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) SNV Pathogenic 44725 rs111033297 GRCh37: 13:20763552-20763552
GRCh38: 13:20189413-20189413
24 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 GRCh37: 13:20763486-20763486
GRCh38: 13:20189347-20189347
25 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
26 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs) Duplication Pathogenic 177737 rs730880338 GRCh37: 13:20763451-20763452
GRCh38: 13:20189312-20189313
27 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 GRCh37: 13:20763395-20763408
GRCh38: 13:20189256-20189269
28 GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) Deletion Pathogenic 189051 rs756484720 GRCh37: 13:20763386-20763387
GRCh38: 13:20189247-20189248
29 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 GRCh37: 13:20763361-20763363
GRCh38: 13:20189222-20189224
30 GJB2 NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) SNV Pathogenic 44742 rs111033295 GRCh37: 13:20763356-20763356
GRCh38: 13:20189217-20189217
31 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 GRCh37: 13:20763351-20763351
GRCh38: 13:20189212-20189212
32 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
33 GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) SNV Pathogenic 29662 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
34 DNAJC3 NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) SNV Pathogenic 429787 rs1131691593 GRCh37: 13:96438294-96438294
GRCh38: 13:95786040-95786040
35 GJB2 NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) SNV Pathogenic 44760 rs397516878 GRCh37: 13:20763150-20763150
GRCh38: 13:20189011-20189011
36 GJB2 NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) Indel Pathogenic 44761 rs111033335 GRCh37: 13:20763121-20763129
GRCh38: 13:20188982-20188990
37 GJB2 NM_004004.6(GJB2):c.-23G>T SNV Pathogenic 189155 rs786204734 GRCh37: 13:20766922-20766922
GRCh38: 13:20192783-20192783
38 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic 17020 rs28931594 GRCh37: 13:20763573-20763573
GRCh38: 13:20189434-20189434
39 MYO7A NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) SNV Likely pathogenic 43206 rs199897298 GRCh37: 11:76895733-76895733
GRCh38: 11:77184688-77184688
40 PRPS1 NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro) SNV Likely pathogenic 446164 rs867288458 GRCh37: X:106888517-106888517
GRCh38: X:107645287-107645287
41 CAPN15 NM_005632.2:c.2904+1_2905-45del Deletion Likely pathogenic 929503 GRCh37:
GRCh38:
42 GJB2 NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) SNV Likely pathogenic 499513 rs111033190 GRCh37: 13:20763626-20763626
GRCh38: 13:20189487-20189487
43 PRPS1 NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) SNV Likely pathogenic 446163 rs1556300621 GRCh37: X:106888516-106888516
GRCh38: X:107645286-107645286
44 CLDN9 NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) Duplication Likely pathogenic 977488 GRCh37: 16:3063730-3063731
GRCh38: 16:3013729-3013730
45 GJB2 NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) SNV Likely pathogenic 560666 rs104894402 GRCh37: 13:20763498-20763498
GRCh38: 13:20189359-20189359
46 GJB2 NM_004004.6(GJB2):c.226C>G (p.Leu76Val) SNV Uncertain significance 560667 rs1566528748 GRCh37: 13:20763495-20763495
GRCh38: 13:20189356-20189356
47 GJB2 NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) SNV Uncertain significance 560670 rs1451982228 GRCh37: 13:20763161-20763161
GRCh38: 13:20189022-20189022
48 ATOH1 NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly) SNV Uncertain significance 873538 GRCh37: 4:94750558-94750558
GRCh38: 4:93829407-93829407
49 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) SNV Uncertain significance 188488 rs150529554 GRCh37: 13:20763366-20763366
GRCh38: 13:20189227-20189227
50 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Uncertain significance 17000 rs35887622 GRCh37: 13:20763620-20763620
GRCh38: 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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