MCID: DFN357
MIFTS: 25

Deafness, Autosomal Recessive 47

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

Aliases & Classifications for Deafness, Autosomal Recessive 47

MalaCards integrated aliases for Deafness, Autosomal Recessive 47:

Name: Deafness, Autosomal Recessive 47 57 73
Deafness, Neurosensory, Autosomal Recessive 47 57 53 13
Dfnb47 57 12 53
Autosomal Recessive Nonsyndromic Deafness 47 12 15
Autosomal Recessive Deafness 47 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
two consanguineous pakistan families have been described


HPO:

32
deafness, autosomal recessive 47:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609946
Disease Ontology 12 DOID:0110504
ICD10 33 H90.3
MedGen 42 C1864964
SNOMED-CT via HPO 69 258211005
UMLS 73 C1864964

Summaries for Deafness, Autosomal Recessive 47

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.

MalaCards based summary : Deafness, Autosomal Recessive 47, also known as deafness, neurosensory, autosomal recessive 47, is related to deafness, autosomal recessive. An important gene associated with Deafness, Autosomal Recessive 47 is DFNB47 (Deafness, Autosomal Recessive 47), and among its related pathways/superpathways is Dopamine-DARPP32 Feedback onto cAMP Pathway. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Description from OMIM: 609946

Related Diseases for Deafness, Autosomal Recessive 47

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 32 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 Recessive 105 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 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 47 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 11.1

Symptoms & Phenotypes for Deafness, Autosomal Recessive 47

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, prelingual profound


Clinical features from OMIM:

609946

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 47 according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.76 ATF4 ATP6V1C2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.76 ATF4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.76 ATF4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.76 ATF4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.76 ATF4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.76 ATP6V1C2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.76 ATP6V1C2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.6 CACNG2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 ATP6V1C2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.6 ATF4 ATP6V1C2 CACNG2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.6 ATF4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.6 CACNG2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.6 ATF4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.6 CACNG2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.6 CACNG2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 ATF4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.6 CACNG2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.6 ATF4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 CACNG2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 ATP6V1C2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.6 ATF4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 ATF4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.6 ATF4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.6 ATP6V1C2
25 Decreased viability in esophageal squamous lineage GR00235-A 9.26 ATF4 ATP6V1C2 CACNG2 KCNF1

Drugs & Therapeutics for Deafness, Autosomal Recessive 47

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 47

Genetic Tests for Deafness, Autosomal Recessive 47

Anatomical Context for Deafness, Autosomal Recessive 47

Publications for Deafness, Autosomal Recessive 47

Variations for Deafness, Autosomal Recessive 47

Expression for Deafness, Autosomal Recessive 47

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 47.

Pathways for Deafness, Autosomal Recessive 47

Pathways related to Deafness, Autosomal Recessive 47 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.98 ATF4 KCNF1

GO Terms for Deafness, Autosomal Recessive 47

Biological processes related to Deafness, Autosomal Recessive 47 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 8.96 CACNG2 KCNF1
2 ion transport GO:0006811 8.8 ATP6V1C2 CACNG2 KCNF1

Sources for Deafness, Autosomal Recessive 47

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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