MCID: DFN114
MIFTS: 34

Deafness, Autosomal Recessive 67

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

Aliases & Classifications for Deafness, Autosomal Recessive 67

MalaCards integrated aliases for Deafness, Autosomal Recessive 67:

Name: Deafness, Autosomal Recessive 67 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 67 12 14
Dfnb67 12 71
Deafness, Autosomal Recessive, 67 71
Autosomal Recessive Deafness 67 12

Characteristics:

OMIM:

54
Miscellaneous:
prelingual onset

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610265
Disease Ontology 12 DOID:0110518
ICD10 33 H90.3
MedGen 40 C1853223
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

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 autosomal recessive nonsyndromic deafness 67, is related to dfnb67 nonsyndromic hearing loss and deafness and deafness, autosomal recessive 36, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 67 is LHFPL5 (Lipoma HMGIC Fusion Partner-Like 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 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 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 dfnb67 nonsyndromic hearing loss and deafness 11.8
2 deafness, autosomal recessive 36 10.5 DIAPH1 ESPN
3 bifid nose with or without anorectal and renal anomalies 10.4 LHFPL5 PJVK
4 ectodermal dysplasia 6, hair/nail type 10.4 LHFPL5 PJVK
5 robinow syndrome, autosomal dominant 1 10.3 GJB2 TMIE
6 pseudo-torch syndrome 1 10.3 GJB2 ILDR1
7 transient neonatal multiple acyl-coa dehydrogenase deficiency 10.3 GJB2 GJB3
8 severe combined immunodeficiency, athabascan type 10.2 ESPN GJB2
9 deafness, autosomal dominant 3a 10.2 GJB2 GJB3
10 kikuchi disease 10.2 GJB2 GJB3
11 pseudocholinesterase deficiency 10.2 GJB2 GJB3
12 fibrosis of extraocular muscles, congenital, 2 10.2 GJB2 LRTOMT
13 spastic paraplegia 50, autosomal recessive 10.2 GJB2 GJB3
14 orofacial cleft 10.2 GJB2 LRTOMT
15 pigmented nodular adrenocortical disease, primary, 2 10.2 GJB2 PJVK
16 microcephaly and chorioretinopathy, autosomal recessive, 3 10.2 COL11A2 GJB2
17 developmental dysplasia of the hip 1 10.1 GJB2 PJVK
18 nonsyndromic hydrocephalus, ccdc88c-related 10.1 GJB2 PJVK
19 viral laryngitis 10.1 GJB2 GJB3
20 erythrokeratodermia variabilis et progressiva 1 10.1 GJB2 GJB3
21 dementia, familial british 10.1 GJB2 GJB3
22 fascioliasis 10.0 GJB2 GJB3 TMIE
23 fibrochondrogenesis 2 10.0 COL11A2 LHFPL3 LHFPL5
24 sclerosing cholangitis, neonatal 10.0 COL11A2 LHFPL3 LHFPL5
25 congenital muscular dystrophy due to lmna mutation 9.9 COL11A2 DIAPH1 GJB2
26 carotid artery disease 9.9 GJB2 GJB3
27 ausems wittebol-post hennekam syndrome 9.9 GJB2 PJVK
28 dihydrolipoamide dehydrogenase deficiency 9.9 GJB2 GJB3
29 deafness, autosomal recessive 53 9.8 COL11A2 GJB2
30 narcissistic personality disorder 9.7 GJB2 GJB3 ILDR1 TMIE
31 mixed lacrimal gland cancer 9.6 GJB2 GJB3
32 nodular lichen myxedematosus 9.5 COL11A2 DIAPH1 GJB2 GJB3
33 deafness, autosomal recessive 8.0 CIB2 ESPN GJB2 GJB3 ILDR1 LHFPL5
34 discrete papular lichen myxedematosus 7.3 CABP2 CIB2 COL11A2 ESPN GJB2 GJB3
35 autosomal recessive nonsyndromic deafness 7.2 CIB2 COL11A2 DIAPH1 ESPN GJB2 GJB3
36 psoriatic arthritis 5.5 CABP2 CIB2 COL11A2 DIAPH1 ESPN GJB2

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:

54

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


Clinical features from OMIM:

610265

Human phenotypes related to Deafness, Autosomal Recessive 67:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 67:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 LRTOMT TMIE CIB2 COL11A2 ESPN GJB2
2 nervous system MP:0003631 9.23 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:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 67 29

Anatomical Context for Deafness, Autosomal Recessive 67

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

39
Brain

Publications for Deafness, Autosomal Recessive 67

Variations for Deafness, Autosomal Recessive 67

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

71
id 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

ClinVar genetic disease variations for Deafness, Autosomal Recessive 67:

6
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.17 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:

id 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
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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