MCID: DFN114
MIFTS: 35

Deafness, Autosomal Recessive 67

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

Aliases & Classifications for Deafness, Autosomal Recessive 67

MalaCards integrated aliases for Deafness, Autosomal Recessive 67:

Name: Deafness, Autosomal Recessive 67 53 28 13 69
Dfnb67 53 12 71
Autosomal Recessive Nonsyndromic Deafness 67 12 14
Deafness, Autosomal Recessive, 67 71
Autosomal Recessive Deafness 67 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 610265
Disease Ontology 12 DOID:0110518
ICD10 32 H90.3
MedGen 39 C1853223
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002
UMLS 69 C1853223

Summaries for Deafness, Autosomal Recessive 67

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 67: 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 67, also known as dfnb67, is related to deafness, autosomal recessive 66 and autosomal recessive nonsyndromic deafness 36, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 67 is LHFPL5 (LHFPL Tetraspan Subfamily Member 5). Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and nervous system

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the LHFPL5 gene on chromosome 6p21.

Description from OMIM: 610265

Related Diseases for Deafness, Autosomal Recessive 67

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 66 29.8 COL11A2 LHFPL3 LHFPL5
2 autosomal recessive nonsyndromic deafness 36 10.3 DIAPH1 ESPN
3 deafness, autosomal recessive 85 10.2 LHFPL5 PJVK
4 deafness, autosomal recessive 83 10.2 LHFPL5 PJVK
5 deafness, autosomal recessive 49 10.2 GJB2 ILDR1
6 deafness, autosomal recessive 6 10.2 GJB2 TMIE
7 hypotrichosis-deafness syndrome 10.1 GJB2 GJB3
8 kid syndrome 10.1 GJB2 GJB3
9 autosomal recessive nonsyndromic deafness 10.1 GJB2 LRTOMT
10 pseudoainhum 10.1 GJB2 GJB3
11 deafness, autosomal recessive 1a 10.1 GJB2 GJB3
12 deafness, autosomal recessive 30 10.1 ESPN GJB2
13 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 GJB3
14 deafness, autosomal recessive 63 10.1 GJB2 LRTOMT
15 knuckle pads 10.1 GJB2 GJB3
16 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB2 GJB3
17 deafness, autosomal recessive 16 10.1 COL11A2 GJB2
18 deafness, autosomal recessive 59 10.1 GJB2 PJVK
19 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 PJVK
20 vestibular disease 10.1 GJB2 GJB3
21 non-syndromic genetic deafness 10.0 GJB2 PJVK
22 erythrokeratodermia variabilis et progressiva 1 10.0 GJB2 GJB3
23 autosomal recessive nonsyndromic deafness 3 10.0 GJB2 PJVK
24 deafness, autosomal recessive 93 10.0 CABP2 GJB2 GJB3
25 deafness, autosomal recessive 53 9.9 COL11A2 LHFPL3 LHFPL5
26 clouston syndrome 9.9 GJB2 GJB3
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
28 palmoplantar keratosis 9.9 GJB2 GJB3
29 deafness, autosomal dominant 6 9.9 COL11A2 DIAPH1 GJB2
30 deafness, autosomal recessive 28 9.9 ESPN GJB2 GJB3
31 deafness, autosomal recessive 12 9.9 GJB2 GJB3
32 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 COL11A2 GJB2 GJB3
33 deafness, autosomal dominant 13 9.8 COL11A2 GJB2
34 auditory system disease 9.7 GJB2 GJB3 ILDR1 TMIE
35 inner ear disease 9.6 GJB2 GJB3
36 autosomal dominant nonsyndromic deafness 9.5 COL11A2 DIAPH1 GJB2 PJVK
37 deafness, autosomal recessive 8.5 CIB2 ESPN GJB2 GJB3 ILDR1 LHFPL5
38 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.0 CABP2 CIB2 COL11A2 ESPN GJB2 GJB3
39 nonsyndromic deafness 7.9 CIB2 COL11A2 DIAPH1 ESPN GJB2 GJB3

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 67:



Diseases related to Deafness, Autosomal Recessive 67

Symptoms & Phenotypes for Deafness, Autosomal Recessive 67

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, congenital, bilateral, severe to profound
no vestibular dysfunction


Clinical features from OMIM:

610265

Human phenotypes related to Deafness, Autosomal Recessive 67:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 67:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.61 CIB2 COL11A2 ESPN GJB2 ILDR1 LHFPL5
2 nervous system MP:0003631 9.28 CIB2 DIAPH1 ESPN GJB2 ILDR1 LHFPL5

Drugs & Therapeutics for Deafness, Autosomal Recessive 67

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 67

Genetic Tests for Deafness, Autosomal Recessive 67

Genetic tests related to Deafness, Autosomal Recessive 67:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 67 28 LHFPL5

Anatomical Context for Deafness, Autosomal Recessive 67

MalaCards organs/tissues related to Deafness, Autosomal Recessive 67:

38
Brain

Publications for Deafness, Autosomal Recessive 67

Articles related to Deafness, Autosomal Recessive 67:

# Title Authors Year
1
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. ( 21816241 )
2011

Variations for Deafness, Autosomal Recessive 67

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 67:

71
# Symbol AA change Variation ID SNP ID
1 LHFPL5 p.Tyr127Cys VAR_032055 rs104893975
2 LHFPL5 p.Thr165Met VAR_032056 rs104893976
3 LHFPL5 p.Arg176Leu VAR_032057
4 LHFPL5 p.Arg158Trp VAR_079038 rs753739358

ClinVar genetic disease variations for Deafness, Autosomal Recessive 67:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LHFPL5 LHFPL5, 1-BP DEL, 246C deletion Pathogenic
2 LHFPL5 NM_182548.3(LHFPL5): c.380A> G (p.Tyr127Cys) single nucleotide variant Pathogenic rs104893975 GRCh37 Chromosome 6, 35773827: 35773827
3 LHFPL5 LHFPL5, 1-BP DEL, 649G deletion Pathogenic
4 LHFPL5 NM_182548.3(LHFPL5): c.494C> T (p.Thr165Met) single nucleotide variant Pathogenic rs104893976 GRCh37 Chromosome 6, 35782404: 35782404
5 LHFPL5 NM_182548.3(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 35782485: 35782485
6 LHFPL5 NM_182548.3(LHFPL5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1060499810 GRCh37 Chromosome 6, 35773448: 35773448

Expression for Deafness, Autosomal Recessive 67

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 67.

Pathways for Deafness, Autosomal Recessive 67

GO Terms for Deafness, Autosomal Recessive 67

Cellular components related to Deafness, Autosomal Recessive 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 9.32 CIB2 ESPN
2 gap junction GO:0005921 9.26 GJB2 GJB3
3 connexin complex GO:0005922 9.16 GJB2 GJB3
4 stereocilium tip GO:0032426 8.96 ESPN LHFPL5
5 stereocilium bundle GO:0032421 8.62 ESPN LHFPL5
6 plasma membrane GO:0005886 10.02 CABP2 CIB2 DIAPH1 GJB2 GJB3 ILDR1

Biological processes related to Deafness, Autosomal Recessive 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 COL11A2 DIAPH1 ESPN GJB2 LHFPL5 LRTOMT
2 cell communication GO:0007154 8.96 GJB2 GJB3

Molecular functions related to Deafness, Autosomal Recessive 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Deafness, Autosomal Recessive 67

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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