DFNB55
MCID: DFN030
MIFTS: 25

Deafness, Autosomal Recessive 55 (DFNB55)

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

Aliases & Classifications for Deafness, Autosomal Recessive 55

MalaCards integrated aliases for Deafness, Autosomal Recessive 55:

Name: Deafness, Autosomal Recessive 55 57 20 13 70
Dfnb55 57 12 20
Autosomal Recessive Nonsyndromic Deafness 55 12 15
Autosomal Recessive Deafness 55 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on the report of one consanguineous pakistani family (last curated august 2015)


HPO:

31
deafness, autosomal recessive 55:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110510
OMIM® 57 609952
OMIM Phenotypic Series 57 PS220290
ICD10 32 H90.3
MedGen 41 C1864962
UMLS 70 C1864962

Summaries for Deafness, Autosomal Recessive 55

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.

MalaCards based summary : Deafness, Autosomal Recessive 55, also known as dfnb55, is related to deafness, autosomal recessive and deafness, autosomal dominant 27. An important gene associated with Deafness, Autosomal Recessive 55 is DFNB55 (Deafness, Autosomal Recessive 55). Related phenotypes are hearing impairment and hearing/vestibular/ear

More information from OMIM: 609952 PS220290

Related Diseases for Deafness, Autosomal Recessive 55

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 31.2 GRXCR1 DFNB55 CDH23
2 deafness, autosomal dominant 27 10.1 SUN3 GRXCR1
3 deafness, autosomal recessive 35 10.0 GRXCR1 CDH23
4 hereditary hearing loss and deafness 10.0 GRXCR1 CDH23
5 cardiomyopathy, dilated, 1a 9.9 SUN3 SUN1
6 branchiootic syndrome 1 9.9 GRXCR1 CDH23
7 deafness, autosomal dominant 41 9.9 P2RX2 CDH23
8 autosomal dominant nonsyndromic deafness 9.8 P2RX2 GRXCR1 CDH23
9 deafness, autosomal recessive 62 9.7 FOXG1 CDH23
10 auditory system disease 9.7 UCN CDH23
11 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 P2RX2 GRXCR1 CDH23
12 deafness, autosomal recessive 40 8.3 UCN SUN3 SUN1 P2RX2 HPRT1 GRXCR1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 55:



Diseases related to Deafness, Autosomal Recessive 55

Symptoms & Phenotypes for Deafness, Autosomal Recessive 55

Human phenotypes related to Deafness, Autosomal Recessive 55:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, prelingual (profound involving all frequencies)
no vestibular involvement

Clinical features from OMIM®:

609952 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 55:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 CDH23 FOXG1 GRXCR1 HPRT1 SUN1 UCN
2 nervous system MP:0003631 9.17 CDH23 FOXG1 GRXCR1 HPRT1 P2RX2 SUN1

Drugs & Therapeutics for Deafness, Autosomal Recessive 55

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 55

Genetic Tests for Deafness, Autosomal Recessive 55

Anatomical Context for Deafness, Autosomal Recessive 55

Publications for Deafness, Autosomal Recessive 55

Articles related to Deafness, Autosomal Recessive 55:

# Title Authors PMID Year
1
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2. 57 61
16098016 2005

Variations for Deafness, Autosomal Recessive 55

Expression for Deafness, Autosomal Recessive 55

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 55.

Pathways for Deafness, Autosomal Recessive 55

GO Terms for Deafness, Autosomal Recessive 55

Cellular components related to Deafness, Autosomal Recessive 55 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 9.26 SUN3 SUN1
2 stereocilium GO:0032420 9.16 GRXCR1 CDH23
3 integral component of nuclear inner membrane GO:0005639 8.96 SUN1 P2RX2
4 meiotic nuclear membrane microtubule tethering complex GO:0034993 8.62 SUN3 SUN1

Biological processes related to Deafness, Autosomal Recessive 55 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.32 HPRT1 CDH23
2 inner ear receptor cell stereocilium organization GO:0060122 9.26 GRXCR1 CDH23
3 nuclear envelope organization GO:0006998 9.16 SUN3 SUN1
4 central nervous system neuron development GO:0021954 8.96 HPRT1 FOXG1
5 sensory perception of sound GO:0007605 8.92 UCN P2RX2 GRXCR1 CDH23

Molecular functions related to Deafness, Autosomal Recessive 55 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.62 SUN3 SUN1

Sources for Deafness, Autosomal Recessive 55

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....