DFNA67
MCID: DFN284
MIFTS: 31

Deafness, Autosomal Dominant 67 (DFNA67)

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

Aliases & Classifications for Deafness, Autosomal Dominant 67

MalaCards integrated aliases for Deafness, Autosomal Dominant 67:

Name: Deafness, Autosomal Dominant 67 56 29 6
Dfna67 56 12 73
Autosomal Dominant Nonsyndromic Deafness 67 12 15
Deafness, Autosomal Dominant, Type 67 39
Deafness, Autosomal Dominant, 67 73
Autosomal Dominant Deafness 67 12

Characteristics:

OMIM:

56
Miscellaneous:
phenotypic variability
one han chinese family and one german family have been described (last curated april 2015)
age of onset varies from 5-32 years of age
hearing loss is progressive and initially affects high-frequencies

Inheritance:
autosomal dominant


HPO:

31
deafness, autosomal dominant 67:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110588
OMIM 56 616340
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3

Summaries for Deafness, Autosomal Dominant 67

OMIM : 56 DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms (Xing et al., 2015; Thoenes et al., 2015). (616340)

MalaCards based summary : Deafness, Autosomal Dominant 67, also known as dfna67, is related to deafness, autosomal dominant 1 and autosomal dominant non-syndromic sensorineural deafness type dfna. An important gene associated with Deafness, Autosomal Dominant 67 is OSBPL2 (Oxysterol Binding Protein Like 2). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the OSBPL2 gene on chromosome 20q13.

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 67: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Related Diseases for Deafness, Autosomal Dominant 67

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 30.0 GJB2 DIAPH1
2 autosomal dominant non-syndromic sensorineural deafness type dfna 29.9 OSBPL2 MIR96 GJB2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 29.8 MIR96 GJB2
4 branchiootic syndrome 1 29.3 OTOF GJB2
5 deafness, autosomal dominant 6 9.9 GJB2 DIAPH1
6 cogan syndrome 9.8 GJB2 APPL1
7 dfnb1 9.8 OTOF GJB2
8 deafness, autosomal recessive 9 9.8 OTOF GJB2
9 deafness, autosomal recessive 93 9.8 OTOF GJB2
10 autosomal recessive nonsyndromic deafness 3 9.8 OTOF GJB2
11 deafness, autosomal recessive 16 9.8 OTOF GJB2
12 deafness, autosomal dominant 36 9.8 OTOF GJB2
13 deafness, autosomal recessive 8 9.8 OTOF GJB2
14 punctate palmoplantar keratoderma 9.7 GJB2 CELA1
15 deafness, autosomal recessive 7 9.7 OTOF GJB2
16 deafness, autosomal recessive 2 9.7 OTOF GJB2
17 x-linked nonsyndromic deafness 9.7 OTOF GJB2
18 usher syndrome, type iia 9.7 OTOF GJB2
19 vestibular disease 9.6 OTOF GJB2
20 auditory neuropathy, autosomal dominant, 1 9.6 OTOF GJB2 DIAPH1
21 nonsyndromic hearing loss 9.6 OTOF GJB2 DIAPH1
22 rare genetic deafness 9.6 OTOF GJB2 DIAPH1
23 autosomal recessive nonsyndromic deafness 9.6 OTOF MIR96 GJB2
24 auditory system disease 9.6 OTOF MIR96 GJB2
25 deafness, autosomal recessive 1a 9.6 OTOF GJB2
26 usher syndrome, type i 9.5 OTOF GJB2 DIAPH1
27 deafness, autosomal recessive 12 9.5 OTOF GJB2
28 inner ear disease 9.4 MIR96 GJB2 EPHB2
29 autosomal dominant nonsyndromic deafness 9.4 OTOF MIR96 GJB2 DIAPH1

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 67:



Diseases related to Deafness, Autosomal Dominant 67

Symptoms & Phenotypes for Deafness, Autosomal Dominant 67

Human phenotypes related to Deafness, Autosomal Dominant 67:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 tinnitus 31 HP:0000360

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural, mild to profound
tinnitus at onset of high-frequency hearing loss
no vestibular symptoms

Clinical features from OMIM:

616340

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 67:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.02 APPL1 DIAPH1 GJB2 JAG1 OTOF

Drugs & Therapeutics for Deafness, Autosomal Dominant 67

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 67

Genetic Tests for Deafness, Autosomal Dominant 67

Genetic tests related to Deafness, Autosomal Dominant 67:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 67 29 OSBPL2

Anatomical Context for Deafness, Autosomal Dominant 67

MalaCards organs/tissues related to Deafness, Autosomal Dominant 67:

40
Brain

Publications for Deafness, Autosomal Dominant 67

Articles related to Deafness, Autosomal Dominant 67:

# Title Authors PMID Year
1
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 6 56 61
25759012 2015
2
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. 56 6
25077649 2015
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014

Variations for Deafness, Autosomal Dominant 67

ClinVar genetic disease variations for Deafness, Autosomal Dominant 67:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OSBPL2 NM_001278649.2(OSBPL2):c.-184-3517_-184-3516delshort repeat Pathogenic 190110 rs786205880 20:60835152-60835153 20:62260096-62260097
2 OSBPL2 NM_001278649.2(OSBPL2):c.-184-3532_-184-3531deldeletion Pathogenic 190111 rs786205881 20:60835140-60835141 20:62260084-62260085

Expression for Deafness, Autosomal Dominant 67

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 67.

Pathways for Deafness, Autosomal Dominant 67

GO Terms for Deafness, Autosomal Dominant 67

Cellular components related to Deafness, Autosomal Dominant 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.61 SLC11A2 OTOF OSBPL2 OSBP JAG1 GJB2
2 membrane GO:0016020 9.36 SLC17A9 SLC11A2 OTOF OSBPL2 OSBP MTG2

Biological processes related to Deafness, Autosomal Dominant 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.37 JAG1 GJB2
2 intermembrane lipid transfer GO:0120009 9.32 OSBPL2 OSBP
3 bile acid biosynthetic process GO:0006699 9.26 OSBPL2 OSBP
4 plasma membrane organization GO:0007009 9.16 OTOF OSBPL2
5 sensory perception of sound GO:0007605 9.13 OTOF GJB2 DIAPH1
6 intracellular cholesterol transport GO:0032367 8.62 OSBPL2 OSBP

Molecular functions related to Deafness, Autosomal Dominant 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sterol binding GO:0032934 8.96 OSBPL2 OSBP
2 sterol transporter activity GO:0015248 8.62 OSBPL2 OSBP

Sources for Deafness, Autosomal Dominant 67

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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