DFNB104
MCID: DFN283
MIFTS: 27

Deafness, Autosomal Recessive 104 (DFNB104)

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

Aliases & Classifications for Deafness, Autosomal Recessive 104

MalaCards integrated aliases for Deafness, Autosomal Recessive 104:

Name: Deafness, Autosomal Recessive 104 57 29 6
Dfnb104 57 12 72
Autosomal Recessive Nonsyndromic Deafness 104 12 15
Deafness, Autosomal Recessive, Type 104 39
Deafness, Autosomal Recessive, 104 72
Autosomal Recessive Deafness 104 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
one consanguineous turkish family has been reported (last curated august 2015)


HPO:

31
deafness, autosomal recessive 104:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110465
OMIM® 57 616515
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005

Summaries for Deafness, Autosomal Recessive 104

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 104: 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.

MalaCards based summary : Deafness, Autosomal Recessive 104, also known as dfnb104, is related to ascaridiasis and toxic megacolon. An important gene associated with Deafness, Autosomal Recessive 104 is RIPOR2 (RHO Family Interacting Cell Polarization Regulator 2), and among its related pathways/superpathways are Signaling by Rho GTPases and Actin Nucleation by ARP-WASP Complex. Related phenotypes are prelingual sensorineural hearing impairment and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the FAM65B gene on chromosome 6p22.

More information from OMIM: 616515 PS220290

Related Diseases for Deafness, Autosomal Recessive 104

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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 Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 104 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ascaridiasis 8.8 RHOV RHOJ RHOF RHOBTB1 RAC3
2 toxic megacolon 8.7 RHOV RHOJ RHOF RHOBTB1 RAC3
3 cardiomyopathy, familial hypertrophic, 1 8.6 RHOV RHOJ RHOF RHOBTB1 RAC3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 104

Human phenotypes related to Deafness, Autosomal Recessive 104:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, sensorineural, profound

Clinical features from OMIM®:

616515 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 104 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.1 HOMER2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.1 RHOJ
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-170 9.1 HOMER2 RHOJ
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.1 HOMER2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.1 RHOJ

Drugs & Therapeutics for Deafness, Autosomal Recessive 104

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 104

Genetic Tests for Deafness, Autosomal Recessive 104

Genetic tests related to Deafness, Autosomal Recessive 104:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 104 29 RIPOR2

Anatomical Context for Deafness, Autosomal Recessive 104

Publications for Deafness, Autosomal Recessive 104

Articles related to Deafness, Autosomal Recessive 104:

# Title Authors PMID Year
1
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. 6 57
24958875 2014

Variations for Deafness, Autosomal Recessive 104

ClinVar genetic disease variations for Deafness, Autosomal Recessive 104:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIPOR2 NM_001286445.3(RIPOR2):c.189-1G>A SNV Pathogenic 208145 rs875989828 GRCh37: 6:24874028-24874028
GRCh38: 6:24873800-24873800

Expression for Deafness, Autosomal Recessive 104

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 104.

Pathways for Deafness, Autosomal Recessive 104

GO Terms for Deafness, Autosomal Recessive 104

Cellular components related to Deafness, Autosomal Recessive 104 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.87 RIPOR2 RHOV RHOJ RHOF RHOBTB1 RAC3
2 cytosol GO:0005829 9.7 RHOV RHOJ RHOF RHOBTB1 RAC3 HOMER2
3 cytoskeleton GO:0005856 9.67 RIPOR2 RHOF RHOBTB1 RAC3
4 stereocilium GO:0032420 9.26 RIPOR2 HOMER2
5 cell cortex GO:0005938 9.13 RHOF RHOBTB1 RAC3
6 cell projection GO:0042995 9.1 RIPOR2 RHOF RHOBTB1 RAC3 HOMER2 ARHGEF6

Biological processes related to Deafness, Autosomal Recessive 104 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.65 RHOV RHOJ RHOF
2 actin filament organization GO:0007015 9.63 RHOF RHOBTB1 RAC3
3 regulation of cell shape GO:0008360 9.62 RHOJ RHOF RHOBTB1 RAC3
4 regulation of actin cytoskeleton organization GO:0032956 9.58 RHOF RHOBTB1 RAC3
5 establishment or maintenance of cell polarity GO:0007163 9.54 RHOF RHOBTB1 RAC3
6 Cdc42 protein signal transduction GO:0032488 9.43 RHOV RHOJ
7 cell projection assembly GO:0030031 9.43 RHOV RHOJ RAC3
8 small GTPase mediated signal transduction GO:0007264 9.35 RHOV RHOJ RHOF RHOBTB1 RAC3
9 cortical cytoskeleton organization GO:0030865 9.33 RHOF RHOBTB1 RAC3
10 regulation of small GTPase mediated signal transduction GO:0051056 9.1 RHOV RHOJ RHOF RHOBTB1 RAC3 ARHGEF6

Molecular functions related to Deafness, Autosomal Recessive 104 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.55 RHOV RHOJ RHOF RHOBTB1 RAC3
2 protein kinase binding GO:0019901 9.43 RHOF RHOBTB1 RAC3
3 GTP binding GO:0005525 9.35 RHOV RHOJ RHOF RHOBTB1 RAC3
4 GTPase activity GO:0003924 9.02 RHOV RHOJ RHOF RHOBTB1 RAC3

Sources for Deafness, Autosomal Recessive 104

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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