DFNB96
MCID: DFN240
MIFTS: 30

Deafness, Autosomal Recessive 96 (DFNB96)

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

Aliases & Classifications for Deafness, Autosomal Recessive 96

MalaCards integrated aliases for Deafness, Autosomal Recessive 96:

Name: Deafness, Autosomal Recessive 96 58 13 74
Autosomal Recessive Nonsyndromic Deafness 96 12 15
Dfnb96 58 12
Autosomal Recessive Deafness 96 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
one consanguineous pakistani family has been reported (as of january 2012)


HPO:

33
deafness, autosomal recessive 96:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110538
OMIM 58 614414
ICD10 34 H90.3
MedGen 43 C3888337
UMLS 74 C3888337

Summaries for Deafness, Autosomal Recessive 96

OMIM : 58 Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by Ansar et al., 2011). (614414)

MalaCards based summary : Deafness, Autosomal Recessive 96, also known as autosomal recessive nonsyndromic deafness 96, is related to deafness, autosomal recessive and cone-rod dystrophy and hearing loss 2. An important gene associated with Deafness, Autosomal Recessive 96 is DFNB96 (Deafness, Autosomal Recessive 96), and among its related pathways/superpathways are Ion channel transport and Hepatic ABC Transporters. Related phenotype is hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.

Related Diseases for Deafness, Autosomal Recessive 96

Diseases in the Familial 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 Nonsyndromic Deafness
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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 96 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 11.3
2 cone-rod dystrophy and hearing loss 2 11.1
3 infantile bartter syndrome with sensorineural deafness 9.9 CLCNKA CLCNKB
4 bartter syndrome, type 4b, neonatal, with sensorineural deafness 9.8 CLCNKA CLCNKB
5 dent disease 1 9.8 CLCNKA CLCNKB
6 renal tubular transport disease 9.7 CLCNKA CLCNKB
7 bartter disease 9.6 CLCNKA CLCNKB
8 autosomal recessive nonsyndromic deafness 36 9.4 CLCNKA CLCNKB ESPN

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 96:



Diseases related to Deafness, Autosomal Recessive 96

Symptoms & Phenotypes for Deafness, Autosomal Recessive 96

Human phenotypes related to Deafness, Autosomal Recessive 96:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, severe to profound, affecting all frequencies

Clinical features from OMIM:

614414

Drugs & Therapeutics for Deafness, Autosomal Recessive 96

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 96

Genetic Tests for Deafness, Autosomal Recessive 96

Anatomical Context for Deafness, Autosomal Recessive 96

Publications for Deafness, Autosomal Recessive 96

Articles related to Deafness, Autosomal Recessive 96:

# Title Authors Year
1
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. ( 21937999 )
2011

Variations for Deafness, Autosomal Recessive 96

Expression for Deafness, Autosomal Recessive 96

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 96.

Pathways for Deafness, Autosomal Recessive 96

Pathways related to Deafness, Autosomal Recessive 96 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CLCNKA CLCNKB
2
Show member pathways
11.05 CLCNKA CLCNKB
3 10.09 CLCNKA CLCNKB

GO Terms for Deafness, Autosomal Recessive 96

Cellular components related to Deafness, Autosomal Recessive 96 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 8.62 CLCNKA CLCNKB

Biological processes related to Deafness, Autosomal Recessive 96 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.32 CLCNKA CLCNKB
2 regulation of ion transmembrane transport GO:0034765 9.26 CLCNKA CLCNKB
3 chloride transmembrane transport GO:1902476 9.16 CLCNKA CLCNKB
4 chloride transport GO:0006821 8.96 CLCNKA CLCNKB
5 excretion GO:0007588 8.62 CLCNKA CLCNKB

Molecular functions related to Deafness, Autosomal Recessive 96 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 8.96 CLCNKA CLCNKB
2 voltage-gated chloride channel activity GO:0005247 8.62 CLCNKA CLCNKB

Sources for Deafness, Autosomal Recessive 96

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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