DFNB68
MCID: DFN263
MIFTS: 25

Deafness, Autosomal Recessive 68 (DFNB68)

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

Aliases & Classifications for Deafness, Autosomal Recessive 68

MalaCards integrated aliases for Deafness, Autosomal Recessive 68:

Name: Deafness, Autosomal Recessive 68 57 29 13 6 71
Dfnb68 57 12 73
Autosomal Recessive Nonsyndromic Deafness 68 12 15
Deafness, Autosomal Recessive, Type 68 39
Deafness, Autosomal Recessive, 68 73
Autosomal Recessive Deafness 68 12

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 2 consanguineous pakistani families (last curated march 2016)
affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene


HPO:

31
deafness, autosomal recessive 68:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110519
OMIM® 57 610419
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1835854
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C1835854

Summaries for Deafness, Autosomal Recessive 68

UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 68: 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 68, also known as dfnb68, is related to deafness, autosomal recessive 35 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Recessive 68 is S1PR2 (Sphingosine-1-Phosphate Receptor 2). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the S1PR2 gene on chromosome 19p13.

More information from OMIM: 610419 PS220290

Related Diseases for Deafness, Autosomal Recessive 68

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 68 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 35 9.9
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9
4 autosomal dominant nonsyndromic deafness 9.7 OTOS CEACAM16
5 deafness, autosomal recessive 15 9.7 ZNRF4 TMEM59 CEACAM16
6 perrault syndrome 9.7 CLPP CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 68:



Diseases related to Deafness, Autosomal Recessive 68

Symptoms & Phenotypes for Deafness, Autosomal Recessive 68

Human phenotypes related to Deafness, Autosomal Recessive 68:

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

Symptoms via clinical synopsis from OMIM®:

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

Clinical features from OMIM®:

610419 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 68:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CEACAM16 CLPP OTOS S1PR2 SLC44A2

Drugs & Therapeutics for Deafness, Autosomal Recessive 68

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 68

Genetic Tests for Deafness, Autosomal Recessive 68

Genetic tests related to Deafness, Autosomal Recessive 68:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 68 29 S1PR2

Anatomical Context for Deafness, Autosomal Recessive 68

Publications for Deafness, Autosomal Recessive 68

Articles related to Deafness, Autosomal Recessive 68:

# Title Authors PMID Year
1
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. 57 6 61
26805784 2016
2
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. 61 57 6
16703383 2006
3
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. 61
29776397 2018
4
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. 61
17690910 2007

Variations for Deafness, Autosomal Recessive 68

ClinVar genetic disease variations for Deafness, Autosomal Recessive 68:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 S1PR2 NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys) SNV Pathogenic 219249 rs869312750 19:10335163-10335163 19:10224487-10224487
2 S1PR2 NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) SNV Pathogenic 219259 rs869312749 19:10335259-10335259 19:10224583-10224583

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 68:

73
# Symbol AA change Variation ID SNP ID
1 S1PR2 p.Arg108Pro VAR_076391 rs869312749
2 S1PR2 p.Tyr140Cys VAR_076392 rs869312750

Expression for Deafness, Autosomal Recessive 68

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 68.

Pathways for Deafness, Autosomal Recessive 68

GO Terms for Deafness, Autosomal Recessive 68

Molecular functions related to Deafness, Autosomal Recessive 68 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.62 TMEM59 CLPP

Sources for Deafness, Autosomal Recessive 68

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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