MCID: DFN263
MIFTS: 25

Deafness, Autosomal Recessive 68

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

Aliases & Classifications for Deafness, Autosomal Recessive 68

MalaCards integrated aliases for Deafness, Autosomal Recessive 68:

Name: Deafness, Autosomal Recessive 68 53 28 13 69
Dfnb68 53 12 71
Autosomal Recessive Nonsyndromic Deafness 68 12 14
Deafness, Autosomal Recessive, 68 71
Autosomal Recessive Deafness 68 12

Characteristics:

OMIM:

53
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:

OMIM 53 610419
Disease Ontology 12 DOID:0110519
ICD10 32 H90.3
MedGen 39 C1835854
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002
UMLS 69 C1835854

Summaries for Deafness, Autosomal Recessive 68

UniProtKB/Swiss-Prot : 71 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 15, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 68 is S1PR2 (Sphingosine-1-Phosphate Receptor 2). Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and respiratory system

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

Description from OMIM: 610419

Related Diseases for Deafness, Autosomal Recessive 68

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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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 15 9.4 PTPRS ZNRF4

Symptoms & Phenotypes for Deafness, Autosomal Recessive 68

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
deafness, sensorineural, profound
prelingual onset


Clinical features from OMIM:

610419

Human phenotypes related to Deafness, Autosomal Recessive 68:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 68:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 CDKN2D S1PR2 SLC44A2
2 respiratory system MP:0005388 8.92 CDKN2D KEAP1 PTPRS S1PR2

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 28 S1PR2

Anatomical Context for Deafness, Autosomal Recessive 68

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

38
Brain

Publications for Deafness, Autosomal Recessive 68

Articles related to Deafness, Autosomal Recessive 68:

# Title Authors Year
1
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. ( 16703383 )
2006

Variations for Deafness, Autosomal Recessive 68

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

71
# Symbol AA change Variation ID SNP ID
1 S1PR2 p.Arg108Pro VAR_076391 rs869312749
2 S1PR2 p.Tyr140Cys VAR_076392 rs869312750

ClinVar genetic disease variations for Deafness, Autosomal Recessive 68:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 S1PR2 NM_004230.3(S1PR2): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic rs869312750 GRCh38 Chromosome 19, 10224487: 10224487
2 S1PR2 NM_004230.3(S1PR2): c.323G> C (p.Arg108Pro) single nucleotide variant Pathogenic rs869312749 GRCh38 Chromosome 19, 10224583: 10224583

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

Sources for Deafness, Autosomal Recessive 68

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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