DFNB67
MCID: DFN114
MIFTS: 32

Deafness, Autosomal Recessive 67 (DFNB67)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 194424005
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 bilateral 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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 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 39)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 85 10.2 LHFPL5 PJVK
2 deafness, autosomal recessive 83 10.2 LHFPL5 PJVK
3 autosomal recessive nonsyndromic deafness 36 10.1 DIAPH1 ESPN
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 deafness, autosomal recessive 6 10.1 GJB2 TMIE
6 autosomal recessive nonsyndromic deafness 10.1 GJB2 LRTOMT
7 deafness, autosomal recessive 9 10.1 GJB2 PJVK
8 autosomal recessive nonsyndromic deafness 3 10.1 GJB2 PJVK
9 deafness, autosomal recessive 59 10.1 GJB2 PJVK
10 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 PJVK
11 deafness, autosomal recessive 49 10.0 GJB2 ILDR1
12 hypotrichosis-deafness syndrome 10.0 GJB2 GJB3
13 kid syndrome 10.0 GJB2 GJB3
14 pseudoainhum 10.0 GJB2 GJB3
15 deafness, autosomal recessive 30 10.0 ESPN GJB2
16 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 GJB3
17 deafness, autosomal recessive 1a 10.0 GJB2 GJB3
18 knuckle pads 10.0 GJB2 GJB3
19 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.0 GJB2 GJB3
20 branchiootic syndrome 1 10.0 GJB2 ILDR1 PJVK
21 vestibular disease 9.9 GJB2 GJB3
22 deafness, autosomal recessive 16 9.9 COL11A2 GJB2
23 erythrokeratodermia variabilis et progressiva 1 9.9 GJB2 GJB3
24 deafness, autosomal recessive 93 9.9 CABP2 GJB2 GJB3
25 drug-induced hearing loss 9.9 GJB2 GJB3
26 clouston syndrome 9.9 GJB2 GJB3
27 deafness, autosomal dominant 6 9.9 COL11A2 DIAPH1 GJB2
28 deafness, autosomal recessive 53 9.9 COL11A2 LHFPL3 LHFPL5
29 deafness, autosomal recessive 28 9.9 ESPN GJB2 GJB3
30 deafness, autosomal recessive 66 9.9 COL11A2 LHFPL3 LHFPL5
31 palmoplantar keratosis 9.9 GJB2 GJB3
32 deafness, autosomal dominant 13 9.9 COL11A2 GJB2
33 auditory system disease 9.8 GJB2 GJB3 ILDR1 PJVK
34 inner ear disease 9.8 GJB2 GJB3
35 autosomal dominant nonsyndromic deafness 9.6 COL11A2 DIAPH1 GJB2 GJB3 PJVK
36 deafness, autosomal recessive 9.5 CIB2 ESPN GJB3 ILDR1 LHFPL5 LRTOMT
37 sensorineural hearing loss 9.4 COL11A2 DIAPH1 ESPN GJB2 GJB3 TMIE
38 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 CABP2 CIB2 COL11A2 ESPN GJB2 GJB3
39 nonsyndromic deafness 8.9 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:

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 bilateral sensorineural hearing impairment 32 HP:0008619

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 CABP2 CIB2 DIAPH1 ESPN GJB2 ILDR1

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 (show all 12)
# 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
11 LHFPL5 NM_182548.3(LHFPL5): c.452G> T (p.Gly151Val) single nucleotide variant Pathogenic rs762876554 GRCh38 Chromosome 6, 35814585: 35814585
12 LHFPL5 NM_182548.3(LHFPL5): c.452G> T (p.Gly151Val) single nucleotide variant Pathogenic rs762876554 GRCh37 Chromosome 6, 35782362: 35782362

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 plasma membrane GO:0005886 9.91 CABP2 CIB2 DIAPH1 GJB2 GJB3 ILDR1
2 stereocilium GO:0032420 9.16 CIB2 ESPN
3 gap junction GO:0005921 8.96 GJB2 GJB3
4 connexin complex GO:0005922 8.62 GJB2 GJB3
5 membrane GO:0016020 10.06 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 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
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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