DFNB68
MCID: DFN263
MIFTS: 26

Deafness, Autosomal Recessive 68 (DFNB68)

Categories: Blood diseases, 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 56 29 13 6 71
Dfnb68 56 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:

56
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 56 610419
OMIM Phenotypic Series 56 PS220290
MeSH 43 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 autosomal recessive non-syndromic sensorineural deafness type dfnb and deafness, autosomal recessive 35. An important gene associated with Deafness, Autosomal Recessive 68 is S1PR2 (Sphingosine-1-Phosphate Receptor 2). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and behavior/neurological

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 30.1 S1PR2 CEACAM16
2 deafness, autosomal recessive 35 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 deafness, autosomal recessive 15 9.6 ZNRF4 TMEM59 CEACAM16
5 perrault syndrome 9.3 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:

56
Head And Neck Ears:
deafness, sensorineural, profound
prelingual onset

Clinical features from OMIM:

610419

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 68:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 CEACAM16 CLPP PTPRS S1PR2 SLC44A2 TMEM59
2 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

MalaCards organs/tissues related to Deafness, Autosomal Recessive 68:

40
Brain

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. 6 56 61
26805784 2016
2
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. 61 56 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

Cellular components related to Deafness, Autosomal Recessive 68 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 8.8 ZNRF4 TMEM59 SLC44A2

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
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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