ACPHD
MCID: ATX031
MIFTS: 56

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 58 76 30 6 41 74
Hearing Loss 45 41 17
Acphd 58 76
Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome 60
Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome 60
Heredodegenerative Disorders, Nervous System 45

Characteristics:

Orphanet epidemiological data:

60
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

58
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:

33
ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus, also known as hearing loss, is related to sensorineural hearing loss and camptodactyly, tall stature, and hearing loss 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). The drugs Silver sulfadiazine and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and brain, and related phenotypes are diabetes mellitus and short stature

Description 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 1440)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 12.9
2 camptodactyly, tall stature, and hearing loss syndrome 12.6
3 hearing loss, noise-induced 12.6
4 age-related hearing loss 12.6
5 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 12.6
6 cone-rod dystrophy and hearing loss 1 12.6
7 peripheral neuropathy, myopathy, hoarseness, and hearing loss 12.6
8 sudden sensorineural hearing loss 12.6
9 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.6
10 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.5
11 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.5
12 congenital cataracts, hearing loss, and neurodegeneration 12.5
13 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.5
14 epilepsy, hearing loss, and mental retardation syndrome 12.5
15 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.5
16 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.5
17 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.5
18 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 12.5
19 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.4
20 hearing loss, cisplatin-induced 12.4
21 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 12.4
22 cone-rod dystrophy and hearing loss 2 12.4
23 drug-induced hearing loss 12.4
24 epiphyseal dysplasia hearing loss dysmorphism 12.4
25 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.4
26 dfna2 nonsyndromic hearing loss 12.4
27 hereditary hearing loss and deafness 12.4
28 congenital ectodermal dysplasia with hearing loss 12.4
29 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.3
30 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.3
31 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 12.3
32 dfnx1 nonsyndromic hearing loss and deafness 12.3
33 nonsyndromic hearing loss and deafness, dfna3 12.3
34 nonsyndromic hearing loss and deafness, dfnb1 12.3
35 nonsyndromic hearing loss and deafness, mitochondrial 12.3
36 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.2
37 mitochondrial dna-related cardiomyopathy and hearing loss 12.2
38 cutaneous mastocytosis, conductive hearing loss and microtia 12.2
39 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.2
40 congenital hereditary facial paralysis-variable hearing loss syndrome 12.2
41 nonsyndromic deafness 12.2
42 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.1
43 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 12.1
44 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.1
45 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 12.1
46 nonsyndromic hereditary sensorineural hearing loss 12.1
47 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.1
48 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 12.1
49 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 12.1
50 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 12.1

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:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
2 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
3 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
4 areflexia of lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002522
5 decreased body weight 60 33 frequent (33%) Frequent (79-30%) HP:0004325
6 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
7 sensorimotor neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007141
8 atrophy/degeneration affecting the brainstem 60 33 frequent (33%) Frequent (79-30%) HP:0007366
9 cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002059
10 demyelinating peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007108
11 sensory ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0010871
12 atrophy of the spinal cord 60 33 frequent (33%) Frequent (79-30%) HP:0006827
13 bilateral sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008619
14 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
15 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
16 cognitive impairment 33 occasional (7.5%) HP:0100543
17 sensorineural hearing impairment 33 HP:0000407
18 type i diabetes mellitus 33 HP:0100651
19 peripheral neuropathy 33 HP:0009830
20 areflexia 33 HP:0001284

Symptoms via clinical synopsis from OMIM:

58
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

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 484)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Phase 4,Not Applicable 22199-08-2 441244
2
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 441203 84093 2767
3
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 616-91-1 12035
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
6
Lansoprazole Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 103577-45-3 3883
7
Dexlansoprazole Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 138530-94-6, 103577-45-3 9578005
8
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 38904 10339178 498142
9
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2 2068-78-2, 57-22-7 5978
10
Phenol Approved, Experimental Phase 4 108-95-2 996
11
Thymol Approved Phase 4 89-83-8 6989
12
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
13
Glycerol Approved, Investigational Phase 4,Phase 3 56-81-5 753
14
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 1 68-04-2
15
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Not Applicable 137-58-6 3676
16
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
17
Cefoxitin Approved Phase 4 35607-66-0 441199
18
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
19
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
20
Tocopherol Approved, Investigational Phase 4,Phase 2 1406-66-2 14986
21
Norepinephrine Approved Phase 4,Phase 3,Phase 2 51-41-2 439260
22
Dopamine Approved Phase 4,Phase 3,Phase 2 62-31-7, 51-61-6 681
23
leucovorin Approved Phase 4,Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
24
Thiotepa Approved, Investigational Phase 4,Phase 3,Phase 2 52-24-4 5453
25
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
26
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2 6055-19-2, 50-18-0 2907
27
Lenograstim Approved, Investigational Phase 4,Phase 3 135968-09-1
28
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
29
Citalopram Approved Phase 4 59729-33-8 2771
30
Mesna Approved, Investigational Phase 4 3375-50-6 598
31
carbamide peroxide Approved Phase 4,Phase 3,Not Applicable 124-43-6
32
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
33
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 77-92-9 311
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 59-30-3 6037
35
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-02-9 14985
37 Tocotrienol Investigational Phase 4,Phase 2 6829-55-6
38 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Antidotes Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Expectorants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
45 Free Radical Scavengers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 N-monoacetylcystine Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
48 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
50
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1045)
# Name Status NCT ID Phase Drugs
1 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
2 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
3 Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) Unknown status NCT01264510 Phase 4
4 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
5 Bilateral Cochlear Implant Benefit in Young Children Unknown status NCT00424307 Phase 4
6 THE USE OF N-ACETYLCYSTEINE ATTENUATING CISPLATIN-INDUCED TOXICITIES BY OXIDATIVE STRESS Unknown status NCT02241876 Phase 4 N-acetylcysteine
7 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment Completed NCT01372904 Phase 4 Dexamethasone Phosphate
8 Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System Completed NCT00205881 Phase 4
9 Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal Completed NCT00765635 Phase 4 drops intilation (Taponoto ® );drops intilation (Otocerum®);drops intilation (Placebo)
10 Study of Anti-reflux Medication as a Potential Treatment for Glue Ear in Children Completed NCT01082029 Phase 4 Lansoprazole;Placebo
11 What Needle Diameter Should Physician Use When They Perform Lumbar Puncture ? A Randomized Controlled Trial Completed NCT01481922 Phase 4
12 Acoustic Coordinated Reset (CR®) Neuromodulation for the Treatment of Chronic Tonal Tinnitus ("RESET Real Life") Completed NCT01435317 Phase 4
13 Efficacy of Acetylcysteine in Patients Undergoing Surgery for Otosclerosis Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
14 Sildenafil For Meniere's Disease Completed NCT00145483 Phase 4 Sildenafil
15 Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study Completed NCT01054378 Phase 4
16 Maternal Music Exposure During Pregnancy Influences Neonatal Behaviour Completed NCT01278329 Phase 4
17 Efficacy of High-dose Intravenous Immunoglobulin Therapy for Hyperbilirubinemia Due Rh Hemolytic Disease Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
18 Effects of Transfusion Thresholds on Neurocognitive Outcome of Extremely Low Birth Weight Infants Completed NCT01393496 Phase 4
19 Slow Initial β-lactam Infusion With High-dose Paracetamol to Improve the Outcomes of Childhood Bacterial Meningitis Completed NCT01540838 Phase 4 Infusion with paracetamol;Bolus without paracetamol
20 Effect of Stellate Ganglion Block on Meniere's Disease Completed NCT01574313 Phase 4 0.25mg, fludiazine;25mg cephadol@ (diphenidol);200mg kentons@ (tocopherol nicotinate).
21 Treating Hearing Loss to Improve Mood and Cognition in Older Adults Recruiting NCT03321006 Phase 4 Duloxetine
22 HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors Recruiting NCT02875314 Phase 4 Induction;Single Cycle Intensive Chemotherapy;Tandem 3 Cycle Intensive Chemotherapy
23 Forced Fluid Removal in High Risk Acute Kidney Injury Terminated NCT02458157 Phase 4 Furosemide (Furix)
24 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
25 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
26 Intensity-Modulated Radiation Therapy or 3-Dimensional Conformal Radiation Therapy in Decreasing Hearing Loss in Patients Who Have Undergone Surgery for Parotid Tumors Unknown status NCT01216800 Phase 3
27 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment Unknown status NCT02005822 Phase 3 Valganciclovir
28 Efficacy of Antiviral Medications in Controlling Vertigo Attacks of Patients With Meniere's Disease Unknown status NCT01729767 Phase 2, Phase 3 Acyclovir;Placebo
29 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
30 Radiation Therapy Plus Combination Chemotherapy in Treating Children With Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
31 Efficacy Study of Hypothermia Plus Magnesium Sulphate(MgSO4) in the Management of Term and Near Term Babies With Hypoxic Ischemic Encephalopathy Unknown status NCT01646619 Phase 3 Magnesium Sulphate;Placebo
32 Efficacy of Erythropoietin to Improve Survival and Neurological Outcome in Hypoxic Ischemic Encephalopathy Unknown status NCT01732146 Phase 3 erythropoietin Beta;Placebo
33 Combination of Cisplatin Plus Gemcitabine Induction Chemotherapy and Intensity-modulated radiotherapyIntensity-modulated Radiotherapy With or Without Concurrent Cisplatin for NPC Unknown status NCT01854203 Phase 2, Phase 3 Inductive chemotherapy + concurrent cisplatin and IMRT;Inductive chemotherapy + IMRT
34 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
35 Sudden Deafness Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
36 Safety and Efficacy of Intratympanic Application of Dexamethasone Via Catheter in Patients With Sudden Hearing Loss Completed NCT00335920 Phase 3 Dexamethasone-dihydrogenphosphate (4mg/ml)
37 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3 sodium thiosulfate
38 Evaluation of a Binaural Spatialization Method for Hearing Aids Completed NCT02693704 Phase 2, Phase 3
39 Alpha-Lipoic Acid in Preventing Hearing Loss in Cancer Patients Undergoing Treatment With Cisplatin Completed NCT00477607 Phase 2, Phase 3 alpha-lipoic acid;Placebo
40 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
41 Cisplatin With or Without Sodium Thiosulfate in Treating Young Patients With Stage I, II, or III Childhood Liver Cancer Completed NCT00652132 Phase 3 cisplatin;sodium thiosulfate
42 Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
43 Oral Glycerol and High-Dose Rectal Paracetamol to Improve the Prognosis of Childhood Bacterial Meningitis Completed NCT00619203 Phase 3 Glycerol and paracetamol;Paracetamol;Paracetamol;Paracetamol;Placebo;Paracetamol and glycerol;Glycerol
44 Short-Term vs. Long-Term Valganciclovir Therapy for Symptomatic Congenital CMV Infections Completed NCT00466817 Phase 3 Valganciclovir
45 Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People Completed NCT01423409 Phase 2, Phase 3
46 Fibrin Monomer Compared With Hemostatic Sponge in the Integrity of the Graft During Tympanoplasty Completed NCT02120651 Phase 3
47 Acute Otitis Media: Adjuvant Therapy to Improve Outcome Completed NCT00000363 Phase 3 Antihistamine;Corticosteroid
48 Late Hypothermia for Hypoxic-Ischemic Encephalopathy Completed NCT00614744 Phase 2, Phase 3
49 Trial of Aggressive Versus Conservative Phototherapy in Infants <1,000 Grams Birth Weight Completed NCT00114543 Phase 3
50 Neuroprotective Role of Erythropoietin in Perinatal Asphyxia Completed NCT02002039 Phase 2, Phase 3 Erythropoietin

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 30 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:

42
Testes, Bone, Brain, Cortex, Liver, Heart, Kidney

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 6972)
# Title Authors Year
1
The World Health Organization's hearing-impairment grading system: an evaluation for unaided communication in age-related hearing loss. ( 30318941 )
2019
2
Auditory Evoked Responses in Older Adults With Normal Hearing, Untreated, and Treated Age-Related Hearing Loss. ( 30762601 )
2019
3
The effect of age-related hearing loss and listening effort on resting state connectivity. ( 30787339 )
2019
4
Cre-Dependent Optogenetic Transgenic Mice Without Early Age-Related Hearing Loss. ( 30863301 )
2019
5
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss. ( 30863428 )
2019
6
Age-Related Hearing Loss Is Accelerated by Repeated Short-Duration Loud Sound Stimulation. ( 30872984 )
2019
7
Factors associated with the efficiency of hearing aids for patients with age-related hearing loss. ( 30880929 )
2019
8
Translating animal models to human therapeutics in noise-induced and age-related hearing loss. ( 30903954 )
2019
9
Protection and Prevention of Age-Related Hearing Loss. ( 30915701 )
2019
10
Speech-in-noise representation in the aging midbrain and cortex: Effects of hearing loss. ( 30865718 )
2019
11
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. ( 30816908 )
2019
12
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). ( 30911858 )
2019
13
Prevalence of cerebral palsy, intellectual disability, hearing loss, and blindness, National Health Interview Survey, 2009-2016. ( 30713095 )
2019
14
Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review. ( 30772614 )
2019
15
Hearing Loss and Depression in Older Adults: A Systematic Review and Meta-analysis. ( 30835787 )
2019
16
Depression in older adults: hearing loss is an important factor. ( 30647062 )
2019
17
Metformin decreases the risk of sudden sensorineural hearing loss in patients with diabetes mellitus: A 14-year follow-up study. ( 30712377 )
2019
18
Prevalence and etiology of sensorineural hearing loss in children with down syndrome: A cross-sectional study. ( 30554691 )
2019
19
A mixed-methods study of the management of hearing loss associated with otitis media with effusion in children with Down syndrome. ( 30222906 )
2019
20
Protection of Hair Cells from Ototoxic Drug-Induced Hearing Loss. ( 30915699 )
2019
21
Non-alcoholic Wernicke encephalopathy presenting as bilateral hearing loss: a case report. ( 30729314 )
2019
22
8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. ( 30733878 )
2019
23
Primary Ewing sarcoma of the squamous temporal bone with intracranial and extracranial extension: A rare cause of sudden sensorineural hearing loss. ( 30584673 )
2019
24
The Headache of Hearing Loss. ( 30784523 )
2019
25
Overview: Hearing Loss, Tinnitus, Hyperacusis, and the role of Central Gain. ( 30885639 )
2019
26
Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome. ( 30817546 )
2019
27
Sensorineural Hearing Loss in Leukemia: A Case Report Showing Intravascular Coagulation in the Cochlea and Vestibular Labyrinth. ( 30913906 )
2019
28
Intravascular large B-cell lymphoma presenting with hearing loss and dizziness: A case report. ( 30762766 )
2019
29
Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. ( 30828346 )
2019
30
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. ( 30733656 )
2019
31
Dosimetric parameters associated with conductive or sensorineural hearing loss 5 years after intensity-modulated radiation therapy in nasopharyngeal carcinoma. ( 30870056 )
2019
32
Osteoporosis and hearing loss: findings from the Korea National Health and Nutrition Examination Survey 2009-2011. ( 30827872 )
2019
33
The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct. ( 30741891 )
2019
34
Sensorineural hearing loss in patients with vestibular schwannoma correlates with the presence of utricular hydrops as diagnosed on heavily T2-weighted MRI. ( 30773403 )
2019
35
Predictive values of neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), and other prognostic factors in pediatric idiopathic sudden sensorineural hearing loss. ( 30784810 )
2019
36
Sudden sensorineural hearing loss in adults. ( 30787010 )
2019
37
Dysconnectivity of Multiple Resting-State Networks Associated With Higher-Order Functions in Sensorineural Hearing Loss. ( 30804740 )
2019
38
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family. ( 30804975 )
2019
39
Improvement or Recovery From Sudden Sensorineural Hearing Loss With Steroid Therapy Does Not Preclude the Need for MRI to Rule Out Vestibular Schwannoma. ( 30807520 )
2019
40
Expanding unilateral cochlear implantation criteria for adults with bilateral acquired severe sensorineural hearing loss. ( 30810818 )
2019
41
Individualized frequency importance functions for listeners with sensorineural hearing loss. ( 30823788 )
2019
42
Using Machine Learning to Predict Sensorineural Hearing Loss Based on Perilymph Micro RNA Expression Profile. ( 30833669 )
2019
43
Relationship between the Pathogenic Mutations of SLC26A4 and CT Phenotypes of Inner Ear in Patient with Sensorineural Hearing Loss. ( 30842343 )
2019
44
Inefficient Involvement of Insula in Sensorineural Hearing Loss. ( 30842724 )
2019
45
A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature. ( 30847195 )
2019
46
Reversible sensorineural hearing loss following carbon monoxide poisoning. ( 30851870 )
2019
47
Complete Recovery of Sensorineural Hearing Loss Following Endoscopic Transsphenoidal Surgery for a Petrous Apex Cholesterol Granuloma: Case Report. ( 30867405 )
2019
48
Sudden Sensorineural Hearing Loss in Children: Clinical Characteristics, Etiology, Treatment Outcomes, and Prognostic Factors. ( 30870353 )
2019
49
Genetic Polymorphisms and Susceptibility to Sudden Sensorineural Hearing Loss: A Systematic Review. ( 30870848 )
2019
50
Sensorineural hearing loss and volatile organic compound metabolites in urine. ( 30871731 )
2019

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 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh37 Chromosome 13, 20763423: 20763423
2 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284
3 DNAJC3 NM_006260.4(DNAJC3): c.580C> T (p.Arg194Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727502865 GRCh37 Chromosome 13, 96412327: 96412327
4 DNAJC3 NM_006260.4(DNAJC3): c.580C> T (p.Arg194Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727502865 GRCh38 Chromosome 13, 95760073: 95760073
5 GJB2 NM_004004.5(GJB2): c.269dupT (p.Val91Serfs) duplication Pathogenic/Likely pathogenic rs730880338 GRCh38 Chromosome 13, 20189313: 20189313
6 GJB2 NM_004004.5(GJB2): c.269dupT (p.Val91Serfs) duplication Pathogenic/Likely pathogenic rs730880338 GRCh37 Chromosome 13, 20763452: 20763452
7 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
8 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
9 GJB2 NM_004004.5(GJB2): c.334_335delAA (p.Lys112Glufs) deletion Pathogenic/Likely pathogenic rs756484720 GRCh38 Chromosome 13, 20189247: 20189248
10 GJB2 NM_004004.5(GJB2): c.334_335delAA (p.Lys112Glufs) deletion Pathogenic/Likely pathogenic rs756484720 GRCh37 Chromosome 13, 20763386: 20763387
11 GJB2 NM_004004.5(GJB2): c.-23G> T single nucleotide variant Likely pathogenic rs786204734 GRCh38 Chromosome 13, 20192783: 20192783
12 GJB2 NM_004004.5(GJB2): c.-23G> T single nucleotide variant Likely pathogenic rs786204734 GRCh37 Chromosome 13, 20766922: 20766922
13 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
14 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
15 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
16 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
17 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
18 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224
19 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
20 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
21 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
22 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
23 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
24 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
25 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
26 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
27 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
28 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
29 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
30 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh38 Chromosome 13, 20189386: 20189386
31 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
32 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh38 Chromosome 13, 20189347: 20189347
33 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
34 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
35 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
36 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
37 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
38 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh38 Chromosome 13, 20192782: 20192782
39 GJB2 NM_004004.5(GJB2): c.56G> C (p.Ser19Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80338941 GRCh37 Chromosome 13, 20763665: 20763665
40 GJB2 NM_004004.5(GJB2): c.56G> C (p.Ser19Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80338941 GRCh38 Chromosome 13, 20189526: 20189526
41 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
42 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
43 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
44 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh38 Chromosome 13, 20189413: 20189413
45 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
46 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh38 Chromosome 13, 20189256: 20189269
47 GJB2 NM_004004.6(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
48 GJB2 NM_004004.6(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 GRCh38 Chromosome 13, 20189548: 20189548
49 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
50 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh38 Chromosome 13, 20189217: 20189217

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

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 125352 19 13800000 16100000 Microdeletion CD97 Hearing loss
2 125358 19 13800000 16100000 Microdeletion DDX39 Hearing loss
3 125364 19 13800000 16100000 Microdeletion GIPC1 Hearing loss
4 125370 19 13800000 16100000 Microdeletion LPHN1 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...

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

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

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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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