MCID: DFN114
MIFTS: 33

Deafness, Autosomal Recessive 67

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

Aliases & Classifications for Deafness, Autosomal Recessive 67

MalaCards integrated aliases for Deafness, Autosomal Recessive 67:

Name: Deafness, Autosomal Recessive 67 57 29 13 6 73
Dfnb67 57 12 75
Autosomal Recessive Nonsyndromic Deafness 67 12 15
Deafness, Autosomal Recessive, Type 67 40
Deafness, Autosomal Recessive, 67 75
Autosomal Recessive Deafness 67 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

32
deafness, autosomal recessive 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610265
Disease Ontology 12 DOID:0110518
ICD10 33 H90.3
MedGen 42 C1853223
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C1853223

Summaries for Deafness, Autosomal Recessive 67

UniProtKB/Swiss-Prot : 75 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 85 and deafness, autosomal recessive 83. An important gene associated with Deafness, Autosomal Recessive 67 is LHFPL5 (LHFPL Tetraspan Subfamily Member 5). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 85 10.6 LHFPL5 PJVK
2 deafness, autosomal recessive 83 10.6 LHFPL5 PJVK
3 autosomal recessive nonsyndromic deafness 36 10.5 DIAPH1 ESPN
4 deafness, autosomal recessive 59 10.2 GJB2 PJVK
5 auditory neuropathy, autosomal dominant, 1 10.2 GJB2 PJVK
6 deafness, autosomal recessive 9 10.2 GJB2 PJVK
7 deafness, autosomal recessive 49 10.2 GJB2 ILDR1
8 deafness, autosomal recessive 6 10.2 GJB2 TMIE
9 autosomal recessive nonsyndromic deafness 3 10.1 GJB2 PJVK
10 deafness, autosomal recessive 30 10.0 ESPN GJB2
11 hypotrichosis-deafness syndrome 10.0 GJB2 GJB3
12 kid syndrome 10.0 GJB2 GJB3
13 autosomal recessive nonsyndromic deafness 10.0 GJB2 LRTOMT
14 pseudoainhum 10.0 GJB2 GJB3
15 non-syndromic genetic deafness 10.0 GJB2 PJVK
16 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 GJB3
17 deafness, autosomal recessive 1a 10.0 GJB2 GJB3
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
19 knuckle pads 10.0 GJB2 GJB3
20 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.0 GJB2 GJB3
21 deafness, autosomal recessive 16 9.9 COL11A2 GJB2
22 vestibular disease 9.9 GJB2 GJB3
23 erythrokeratodermia variabilis et progressiva 1 9.8 GJB2 GJB3
24 deafness, autosomal recessive 93 9.8 CABP2 GJB2 GJB3
25 clouston syndrome 9.7 GJB2 GJB3
26 deafness, autosomal dominant 6 9.6 COL11A2 DIAPH1 GJB2
27 deafness, autosomal recessive 53 9.6 COL11A2 LHFPL3 LHFPL5
28 deafness, autosomal recessive 28 9.6 ESPN GJB2 GJB3
29 deafness, autosomal recessive 66 9.6 COL11A2 LHFPL3 LHFPL5
30 palmoplantar keratosis 9.6 GJB2 GJB3
31 deafness, autosomal dominant 13 9.5 COL11A2 GJB2
32 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 COL11A2 GJB2 GJB3
33 auditory system disease 9.4 GJB2 GJB3 ILDR1 TMIE
34 inner ear disease 9.2 GJB2 GJB3
35 autosomal dominant nonsyndromic deafness 8.7 COL11A2 DIAPH1 GJB2 GJB3 PJVK
36 deafness, autosomal recessive 7.5 CIB2 ESPN GJB2 GJB3 ILDR1 LHFPL5
37 autosomal recessive non-syndromic sensorineural deafness type dfnb 6.7 CABP2 CIB2 COL11A2 ESPN GJB2 GJB3
38 nonsyndromic deafness 6.5 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:

57
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:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 67:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.65 CABP2 CIB2 COL11A2 ESPN GJB2 ILDR1
2 nervous system MP:0003631 9.32 ESPN GJB2 ILDR1 LHFPL5 LRTOMT PJVK

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 29 LHFPL5

Anatomical Context for Deafness, Autosomal Recessive 67

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

41
Brain

Publications for Deafness, Autosomal Recessive 67

Variations for Deafness, Autosomal Recessive 67

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

75
# 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 NM_182548.3(LHFPL5): c.380A> G (p.Tyr127Cys) single nucleotide variant Pathogenic rs104893975 GRCh38 Chromosome 6, 35806050: 35806050
4 LHFPL5 LHFPL5, 1-BP DEL, 649G deletion Pathogenic
5 LHFPL5 NM_182548.3(LHFPL5): c.494C> T (p.Thr165Met) single nucleotide variant Pathogenic rs104893976 GRCh37 Chromosome 6, 35782404: 35782404
6 LHFPL5 NM_182548.3(LHFPL5): c.494C> T (p.Thr165Met) single nucleotide variant Pathogenic rs104893976 GRCh38 Chromosome 6, 35814627: 35814627
7 LHFPL5 NM_182548.3(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 35782485: 35782485
8 LHFPL5 NM_182548.3(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 35814708: 35814708
9 LHFPL5 NM_182548.3(LHFPL5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1060499810 GRCh37 Chromosome 6, 35773448: 35773448
10 LHFPL5 NM_182548.3(LHFPL5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs1060499810 GRCh38 Chromosome 6, 35805671: 35805671

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 CABP2 COL11A2 DIAPH1 ESPN GJB2 LHFPL5
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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