DFNA44
MCID: DFN118
MIFTS: 28

Deafness, Autosomal Dominant 44 (DFNA44)

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

Aliases & Classifications for Deafness, Autosomal Dominant 44

MalaCards integrated aliases for Deafness, Autosomal Dominant 44:

Name: Deafness, Autosomal Dominant 44 57 29 13 6 70
Dfna44 57 12 72
Autosomal Dominant Nonsyndromic Deafness 44 12 15
Deafness, Autosomal Dominant, Type 44 39
Deafness, Autosomal Dominant, 44 72
Autosomal Dominant Deafness 44 12

Characteristics:

OMIM®:

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

Miscellaneous:
one spanish family has been reported (last curated august 2015)


HPO:

31
deafness, autosomal dominant 44:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110569
OMIM® 57 607453
OMIM Phenotypic Series 57 PS124900
MeSH 44 D003638
ICD10 32 H90.3
MedGen 41 C1843895
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1843895

Summaries for Deafness, Autosomal Dominant 44

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 44: A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade.

MalaCards based summary : Deafness, Autosomal Dominant 44, also known as dfna44, is related to nonsyndromic hearing loss and sensorineural hearing loss. An important gene associated with Deafness, Autosomal Dominant 44 is CCDC50 (Coiled-Coil Domain Containing 50). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has material basis in mutation in the CCDC50 gene on chromosome 3q28.

More information from OMIM: 607453 PS124900

Related Diseases for Deafness, Autosomal Dominant 44

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 Dominant 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 28.7 TECTA POU4F3 KCNQ4 EYA4 COL11A2
2 sensorineural hearing loss 28.6 TECTA POU4F3 KCNQ4 EYA4 COL11A2
3 deafness, autosomal recessive 53 10.1 TECTA COL11A2
4 deafness, autosomal dominant 43 10.1 POU4F3 CCDC50
5 deafness, autosomal dominant 24 10.1 POU4F3 CCDC50
6 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 TECTA COL11A2
7 deafness, autosomal dominant 50 10.0 POU4F3 CCDC50
8 deafness, autosomal dominant 11 10.0 POU4F3 COL11A2
9 deafness, autosomal dominant 31 10.0 ZAN TECTA
10 deafness, autosomal dominant 49 10.0 ZAN TECTA
11 nonsyndromic deafness 9.9 KCNQ4 COL11A2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
13 hereditary hearing loss and deafness 9.9 EYA4 COL11A2 CCDC50
14 deafness, autosomal dominant 28 9.8 KCNQ4 EYA4
15 deafness, autosomal recessive 21 9.8 ZAN TECTA COL11A2
16 stickler syndrome 9.8 TECTA COL11A2
17 deafness, autosomal dominant 41 9.8 POU4F3 KCNQ4
18 deafness, autosomal dominant 20 9.8 POU4F3 KCNQ4
19 branchiootic syndrome 9.7 KCNQ4 EYA4
20 deafness, autosomal dominant 18 9.7 POU4F3 KCNQ4 CCDC50
21 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 TECTA POU4F3 COL11A2
22 deafness, autosomal dominant 2b 9.7 POU4F3 KCNQ4 CCDC50
23 deafness, autosomal dominant 16 9.7 POU4F3 KCNQ4 CCDC50
24 deafness, autosomal dominant 2a 9.6 POU4F3 KCNQ4 CCDC50
25 deafness, autosomal dominant 25 9.6 POU4F3 KCNQ4 CCDC50
26 non-syndromic genetic deafness 9.6 TECTA KCNQ4
27 deafness, autosomal dominant 9 9.6 POU4F3 KCNQ4 COL11A2
28 deafness, autosomal dominant 21 9.6 ZAN TECTA EYA4 COL11A2
29 usher syndrome, type i 9.6 TECTA KCNQ4 CCDC50
30 deafness, autosomal dominant 15 9.5 POU4F3 KCNQ4 COL11A2 CCDC50
31 rare genetic deafness 9.4 TECTA KCNQ4 EYA4 COL11A2
32 deafness, autosomal dominant 6 9.4 TECTA POU4F3 KCNQ4 COL11A2
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 TECTA POU4F3 KCNQ4 COL11A2
34 usher syndrome 9.4 TECTA POU4F3 KCNQ4 COL11A2
35 auditory system disease 9.2 TECTA POU4F3 KCNQ4 EYA4 COL11A2
36 autosomal dominant non-syndromic sensorineural deafness type dfna 9.0 TECTA POU4F3 KCNQ4 EYA4 COL11A2 CCDC50
37 deafness, autosomal dominant 13 8.9 ZAN TECTA KCNQ4 EYA4 COL11A2 CCDC50
38 deafness, autosomal dominant 12 8.7 ZAN TECTA POU4F3 KCNQ4 EYA4 COL11A2
39 deafness, autosomal dominant 10 8.7 ZAN TECTA POU4F3 KCNQ4 EYA4 COL11A2
40 autosomal dominant nonsyndromic deafness 8.7 ZAN TECTA POU4F3 KCNQ4 EYA4 COL11A2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 44:



Diseases related to Deafness, Autosomal Dominant 44

Symptoms & Phenotypes for Deafness, Autosomal Dominant 44

Human phenotypes related to Deafness, Autosomal Dominant 44:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, postlingual progressive (mainly affecting 125hz to 2,000 hz)

Clinical features from OMIM®:

607453 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 44:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 COL11A2 EYA4 KCNQ4 POU4F3 TECTA

Drugs & Therapeutics for Deafness, Autosomal Dominant 44

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 44

Genetic Tests for Deafness, Autosomal Dominant 44

Genetic tests related to Deafness, Autosomal Dominant 44:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 44 29 CCDC50

Anatomical Context for Deafness, Autosomal Dominant 44

Publications for Deafness, Autosomal Dominant 44

Articles related to Deafness, Autosomal Dominant 44:

# Title Authors PMID Year
1
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. 57 6 61
17503326 2007
2
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29. 61 57
12483295 2003
3
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness. 61
27142990 2016

Variations for Deafness, Autosomal Dominant 44

ClinVar genetic disease variations for Deafness, Autosomal Dominant 44:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC50 CCDC50, 8-BP DUP, NT1394 Duplication Pathogenic 1036 GRCh37:
GRCh38:
2 CCDC50 NM_178335.3(CCDC50):c.199C>G (p.Leu67Val) SNV Uncertain significance 1032557 GRCh37: 3:191075873-191075873
GRCh38: 3:191358084-191358084

Expression for Deafness, Autosomal Dominant 44

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 44.

Pathways for Deafness, Autosomal Dominant 44

GO Terms for Deafness, Autosomal Dominant 44

Cellular components related to Deafness, Autosomal Dominant 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 ZAN TECTA COL11A2

Biological processes related to Deafness, Autosomal Dominant 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.16 POU4F3 KCNQ4
2 sensory perception of sound GO:0007605 9.1 TECTA POU4F3 KCNQ4 EYA4 COL11A2 CCDC50
3 inner ear development GO:0048839 8.96 POU4F3 EYA4

Sources for Deafness, Autosomal Dominant 44

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
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