MCID: DFN263
MIFTS: 24

Deafness, Autosomal Recessive 68

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

Aliases & Classifications for Deafness, Autosomal Recessive 68

MalaCards integrated aliases for Deafness, Autosomal Recessive 68:

Name: Deafness, Autosomal Recessive 68 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 68 12 14
Dfnb68 12 71
Deafness, Autosomal Recessive, 68 71
Autosomal Recessive Deafness 68 12

Characteristics:

OMIM:

54
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:

32
deafness, autosomal recessive 68:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610419
Disease Ontology 12 DOID:0110519
ICD10 33 H90.3
MedGen 40 C1835854
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

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 autosomal recessive nonsyndromic deafness 68, is related to spondylometaphyseal dysplasia, sedaghatian type and rhabdoid tumor predisposition syndrome 2, 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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 68 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spondylometaphyseal dysplasia, sedaghatian type 9.5 PTPRS ZNRF4
2 rhabdoid tumor predisposition syndrome 2 7.2 CDKN2D KEAP1 PTPRS S1PR2 SLC44A2 ZNRF4

Symptoms & Phenotypes for Deafness, Autosomal Recessive 68

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

610419

Human phenotypes related to Deafness, Autosomal Recessive 68:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 68:

44
id 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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027

Search NIH Clinical Center for Deafness, Autosomal Recessive 68

Genetic Tests for Deafness, Autosomal Recessive 68

Genetic tests related to Deafness, Autosomal Recessive 68:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 68 29

Anatomical Context for Deafness, Autosomal Recessive 68

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

39
Brain

Publications for Deafness, Autosomal Recessive 68

Variations for Deafness, Autosomal Recessive 68

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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