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 57 75 29 6 40 73
Hearing Loss 44 40
Acphd 57 75
Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome 59
Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome 59
Heredodegenerative Disorders, Nervous System 44

Characteristics:

Orphanet epidemiological data:

59
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

57
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:

32
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 : 75 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). Affiliated tissues include bone, testes 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 1340)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 12.9
2 camptodactyly, tall stature, and hearing loss syndrome 12.6
3 age-related hearing loss 12.6
4 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 12.6
5 peripheral neuropathy, myopathy, hoarseness, and hearing loss 12.6
6 sudden sensorineural hearing loss 12.6
7 hearing loss, noise-induced 12.6
8 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.5
9 cone-rod dystrophy and hearing loss 12.5
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 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.4
16 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.4
17 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.4
18 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 12.4
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 drug-induced hearing loss 12.3
23 epiphyseal dysplasia hearing loss dysmorphism 12.3
24 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.3
25 dfna2 nonsyndromic hearing loss 12.3
26 hereditary hearing loss and deafness 12.3
27 congenital ectodermal dysplasia with hearing loss 12.3
28 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.3
29 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.3
30 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 12.3
31 dfnx1 nonsyndromic hearing loss and deafness 12.3
32 nonsyndromic hearing loss and deafness, dfna3 12.3
33 nonsyndromic hearing loss and deafness, dfnb1 12.3
34 nonsyndromic hearing loss and deafness, mitochondrial 12.3
35 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.2
36 nonsyndromic deafness 12.2
37 cutaneous mastocytosis, conductive hearing loss and microtia 12.2
38 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.2
39 maternally-inherited cardiomyopathy and hearing loss 12.2
40 congenital hereditary facial paralysis-variable hearing loss syndrome 12.2
41 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.1
42 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 12.1
43 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.1
44 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 12.1
45 nonsyndromic hereditary sensorineural hearing loss 12.1
46 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.1
47 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 12.1
48 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 12.1
49 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 12.1
50 sensorineural hearing loss-early graying-essential tremor 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
3 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
4 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
5 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
6 areflexia of lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002522
7 decreased body weight 59 32 frequent (33%) Frequent (79-30%) HP:0004325
8 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
9 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
10 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
11 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
12 demyelinating peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007108
13 sensory ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0010871
14 atrophy of the spinal cord 59 32 frequent (33%) Frequent (79-30%) HP:0006827
15 bilateral sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008619
16 sensorineural hearing impairment 32 HP:0000407
17 cognitive impairment 32 occasional (7.5%) HP:0100543
18 type i diabetes mellitus 32 HP:0100651
19 peripheral neuropathy 32 HP:0009830
20 areflexia 32 HP:0001284

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...

Search Clinical Trials , 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:

41
Bone, Testes, Brain, Cortex, Heart, T Cells, 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 4606)
# Title Authors Year
1
Prevalence and etiology of sensorineural hearing loss in children with down syndrome: A cross-sectional study. ( 30554691 )
2019
2
A mixed-methods study of the management of hearing loss associated with otitis media with effusion in children with Down syndrome. ( 30222906 )
2019
3
Radiographic findings in young adults with asymmetric sensorineural hearing loss. ( 30472122 )
2019
4
Assessment of balance skills and falling risk in children with congenital bilateral profound sensorineural hearing loss. ( 30554713 )
2019
5
Asymmetric sensorineural hearing loss is a risk factor for late-onset hearing loss in pediatric cancer survivors following cisplatin treatment. ( 30334605 )
2019
6
Hidden hearing loss in children and adolescents with sickle cell anemia. ( 30554696 )
2019
7
Prevalence and nature of hearing loss in a cohort of children with sickle cell disease. ( 30207054 )
2019
8
Hearing loss in children with sickle cell disease: A prospective French cohort study. ( 30251366 )
2019
9
Phenotypic Characterization of DFNB16-associated Hearing Loss. ( 30531641 )
2019
10
Imaging of Pediatric Hearing Loss. ( 30466635 )
2019
11
Effects of socioeconomic status on children with hearing loss. ( 30554680 )
2019
12
Prediction of uptake and retention of conventional hearing aids in Korean pediatric patients with unilateral hearing loss. ( 30554683 )
2019
13
The effect of simultaneously and sequentially delivered cognitive and aerobic training on mobility among older adults with hearing loss. ( 30390596 )
2019
14
Prognostic factors regarding the hearing outcome in severe to profound sudden sensorineural hearing loss treated by tympanotomy and sealing of labyrinthine windows after ineffective systemic corticosteroid application. ( 29855690 )
2018
15
Disruptive Hearing Technologies and Mild Sensorineural Hearing Loss II: Current Research on Affordable Hearing Technologies and Direct-to-Consumer Models. ( 29915452 )
2018
16
Risk factors of sensorineural hearing loss in patients with unilateral safe chronic suppurative otitis media. ( 29331307 )
2018
17
Functional Change in the Caudal Pontine Reticular Nucleus Induced by Age-Related Hearing Loss. ( 29853848 )
2018
18
Association of Sudden Sensorineural Hearing Loss With Risk of Cardiocerebrovascular Disease: A Study Using Data From the Korea National Health Insurance Service. ( 29270613 )
2018
19
Which Patients With Asymmetric Sensorineural Hearing Loss Should Undergo Imaging? ( 29392735 )
2018
20
Mobile Hearing Testing Applications and the Diagnosis of Sudden Sensorineural Hearing Loss: A Cautionary Tale. ( 29227445 )
2018
21
Hypertrophic Pachymeningitis of the Internal Auditory Canal: A Rare Case of Unilateral Sudden Sensorineural Hearing Loss. ( 29938521 )
2018
22
Assessment of Spontaneous Recovery Rates in Patients With Idiopathic Sudden Sensorineural Hearing Loss. ( 29931029 )
2018
23
Comparison of intratympanic dexamethasone therapy and hyperbaric oxygen therapy for the salvage treatment of refractory high-frequency sudden sensorineural hearing loss. ( 29891394 )
2018
24
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. ( 29287879 )
2018
25
Bony cochlear nerve canal stenosis in pediatric unilateral sensorineural hearing loss. ( 29447896 )
2018
26
Efficacy of systemic and intratympanic corticosteroid combination therapy versus intratympanic or systemic therapy in patients with idiopathic sudden sensorineural hearing loss: a randomized controlled trial. ( 29149379 )
2018
27
Utilization of diagnostic testing for pediatric sensorineural hearing loss. ( 29958610 )
2018
28
Quantitative study of the correlation between cerebellar retraction factors and hearing loss following microvascular decompression for hemifacial spasm. ( 29075904 )
2018
29
Oral and intratympanic steroid therapy for idiopathic sudden sensorineural hearing loss. ( 29721537 )
2018
30
Mechanisms of Hearing Loss in a Guinea Pig Model of Superior Semicircular Canal Dehiscence. ( 29853836 )
2018
31
Acute streptococcal meningitis presenting as bilateral conductive hearing loss. ( 29655501 )
2018
32
Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family. ( 29151245 )
2018
33
Audio-visual speech processing in age-related hearing loss: Stronger integration and increased frontal lobe recruitment. ( 29655940 )
2018
34
Neonates with congenital Cytomegalovirus and hearing loss identified via the universal newborn hearing screening program. ( 29571077 )
2018
35
Compensated Vestibular Dysfunction Post Cochlear Implantation in Children with Sensorineural Hearing Loss: A Prospective Study. ( 29977841 )
2018
36
The role of explorative tympanotomy in patients with sudden sensorineural hearing loss with and without perilymphatic fistula. ( 29055686 )
2018
37
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling. ( 29447883 )
2018
38
Fever of unknown origin, bilateral sensorineural hearing loss with canal paresis and uveitis with iridocyclitis and episcleritis: a case of Cogan's syndrome. ( 29703835 )
2018
39
Serum uric acid and prevalence of age-related hearing loss in the Japanese population: Baseline data from the Aidai Cohort Study in Yawatahama. ( 29339204 )
2018
40
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct. ( 29501320 )
2018
41
Loss of IDH2 Accelerates Age-related Hearing Loss in Male Mice. ( 29567975 )
2018
42
A protocol for a network meta-analysis of interventions to treat patients with sudden sensorineural hearing loss. ( 29769117 )
2018
43
Age-related hearing loss: Unraveling the pieces. ( 29721536 )
2018
44
Delayed Recovery in Pediatric Sudden Sensorineural Hearing Loss Predicted via Magnetic Resonance Imaging. ( 29717656 )
2018
45
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. ( 29725052 )
2018
46
Age-Related Hearing Loss and Its Association with Depression in Later Life. ( 29752060 )
2018
47
Hearing loss in PHACE syndrome: clinical and radiologic findings. ( 29748705 )
2018
48
Hearing Loss in Type 2 Diabetes in Association with Diabetic Neuropathy. ( 29433858 )
2018
49
Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. ( 29440549 )
2018
50
A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening. ( 29513124 )
2018

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.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
2 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
3 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
4 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
5 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
6 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
7 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
8 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
9 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
10 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224
11 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
12 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
13 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
14 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
15 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
16 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
17 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh37 Chromosome 13, 20763525: 20763525
18 GJB2 NM_004004.5(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 GRCh38 Chromosome 13, 20189386: 20189386
19 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
20 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh38 Chromosome 13, 20189347: 20189347
21 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
22 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
23 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
24 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
25 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
26 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh38 Chromosome 13, 20192782: 20192782
27 GJB2 NM_004004.5(GJB2): c.56G> C (p.Ser19Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80338941 GRCh37 Chromosome 13, 20763665: 20763665
28 GJB2 NM_004004.5(GJB2): c.56G> C (p.Ser19Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80338941 GRCh38 Chromosome 13, 20189526: 20189526
29 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
30 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
31 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
32 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh38 Chromosome 13, 20189413: 20189413
33 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
34 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh38 Chromosome 13, 20189256: 20189269
35 GJB2 NM_004004.5(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
36 GJB2 NM_004004.5(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 GRCh38 Chromosome 13, 20189548: 20189548
37 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
38 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh38 Chromosome 13, 20189217: 20189217
39 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
40 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh38 Chromosome 13, 20189212: 20189212
41 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
42 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
43 GJB2 NM_004004.5(GJB2): c.571T> C (p.Phe191Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516878 GRCh37 Chromosome 13, 20763150: 20763150
44 GJB2 NM_004004.5(GJB2): c.571T> C (p.Phe191Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516878 GRCh38 Chromosome 13, 20189011: 20189011
45 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
46 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh38 Chromosome 13, 20188982: 20188990
47 GJB2 NM_004004.5(GJB2): c.35dupG (p.Val13Cysfs) duplication Pathogenic/Likely pathogenic rs398123814 GRCh37 Chromosome 13, 20763686: 20763686
48 GJB2 NM_004004.5(GJB2): c.35dupG (p.Val13Cysfs) duplication Pathogenic/Likely pathogenic rs398123814 GRCh38 Chromosome 13, 20189547: 20189547
49 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh37 Chromosome 13, 20763423: 20763423
50 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284

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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