DFNB27
MCID: DFN169
MIFTS: 23

Deafness, Autosomal Recessive 27 (DFNB27)

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

Aliases & Classifications for Deafness, Autosomal Recessive 27

MalaCards integrated aliases for Deafness, Autosomal Recessive 27:

Name: Deafness, Autosomal Recessive 27 57 13 70
Autosomal Recessive Nonsyndromic Deafness 27 12 15
Dfnb27 57 12
Autosomal Recessive Deafness 27 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015)


HPO:

31
deafness, autosomal recessive 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110485
OMIM® 57 605818
OMIM Phenotypic Series 57 PS220290
ICD10 32 H90.3
MedGen 41 C1853941
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1853941

Summaries for Deafness, Autosomal Recessive 27

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.

MalaCards based summary : Deafness, Autosomal Recessive 27, also known as autosomal recessive nonsyndromic deafness 27, is related to deafness, autosomal recessive and deafness, autosomal dominant 16. An important gene associated with Deafness, Autosomal Recessive 27 is DFNB27 (Deafness, Autosomal Recessive 27). Related phenotype is sensorineural hearing impairment.

More information from OMIM: 605818 PS220290

Related Diseases for Deafness, Autosomal Recessive 27

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 27 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 30.5 TMIE TMC1 PJVK DFNB27
2 deafness, autosomal dominant 16 30.0 XIRP2 NGRN
3 branchiootic syndrome 1 29.7 TMC1 PJVK
4 deafness, autosomal recessive 2 10.0 TMC1 PJVK
5 deafness, autosomal recessive 13 10.0 TMC1 PJVK
6 autosomal recessive nonsyndromic deafness 3 10.0 TMC1 PJVK
7 deafness, autosomal recessive 8 9.9 TMC1 PJVK
8 deafness, autosomal recessive 6 9.9 TMIE PJVK
9 deafness, autosomal recessive 21 9.9 TMC1 PJVK
10 deafness, autosomal recessive 93 9.9 TMIE PJVK
11 deafness, autosomal recessive 1a 9.9 TMC1 PJVK
12 myopathy, myofibrillar, 5 9.9 XIRP2 XIRP1
13 deafness, autosomal recessive 67 9.9 TMIE PJVK
14 deafness, autosomal recessive 35 9.9 TMIE PJVK
15 deafness, autosomal recessive 22 9.9 TMIE PJVK
16 deafness, autosomal recessive 5 9.8 TMIE NGRN
17 y-linked deafness 9.8 TMIE TMC1
18 y-linked monogenic disease 9.8 TMIE TMC1
19 deafness, autosomal recessive 16 9.7 TMIE TMC1
20 usher syndrome, type ic 9.7 TMIE TMC1
21 myofibrillar myopathy 9.7 XIRP2 XIRP1
22 deafness, autosomal dominant 36 9.7 TMIE TMC1
23 usher syndrome, type id 9.6 TMIE TMC1
24 deafness, autosomal dominant 27 9.6 TMPRSS11D TMIE NGRN
25 deafness, autosomal recessive 7 9.6 TMIE TMC1 PJVK
26 deafness, autosomal recessive 63 9.6 TMIE TMC1 PJVK
27 deafness, autosomal recessive 9 9.6 TMIE TMC1 PJVK
28 deafness, autosomal recessive 12 9.6 TMIE TMC1 PJVK
29 auditory system disease 9.6 TMIE TMC1 PJVK
30 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 TMIE TMC1 PJVK
31 autosomal dominant nonsyndromic deafness 9.6 TMIE TMC1 PJVK
32 nonsyndromic hearing loss 9.6 TMIE TMC1 PJVK
33 autosomal recessive nonsyndromic deafness 9.5 TMIE TMC1 PJVK
34 usher syndrome type 2 9.5 TMIE TMC1
35 deafness, autosomal dominant 30 9.5 TMIE TMC1 NGRN
36 usher syndrome, type i 9.5 TMIE TMC1 PJVK
37 usher syndrome 9.5 TMIE TMC1 PJVK
38 rare genetic deafness 9.5 TMIE TMC1 PJVK

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 27:



Diseases related to Deafness, Autosomal Recessive 27

Symptoms & Phenotypes for Deafness, Autosomal Recessive 27

Human phenotypes related to Deafness, Autosomal Recessive 27:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM®:

605818 (Updated 20-May-2021)

Drugs & Therapeutics for Deafness, Autosomal Recessive 27

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 27

Genetic Tests for Deafness, Autosomal Recessive 27

Anatomical Context for Deafness, Autosomal Recessive 27

Publications for Deafness, Autosomal Recessive 27

Articles related to Deafness, Autosomal Recessive 27:

# Title Authors PMID Year
1
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31. 61 57
11175289 2000
2
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. 61
17373699 2007

Variations for Deafness, Autosomal Recessive 27

Expression for Deafness, Autosomal Recessive 27

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 27.

Pathways for Deafness, Autosomal Recessive 27

GO Terms for Deafness, Autosomal Recessive 27

Cellular components related to Deafness, Autosomal Recessive 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 8.62 XIRP2 XIRP1

Biological processes related to Deafness, Autosomal Recessive 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.13 TMIE TMC1 PJVK
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.62 TMC1 PJVK

Sources for Deafness, Autosomal Recessive 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....