MCID: DFN118
MIFTS: 30

Deafness, Autosomal Dominant 44

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

Aliases & Classifications for Deafness, Autosomal Dominant 44

MalaCards integrated aliases for Deafness, Autosomal Dominant 44:

Name: Deafness, Autosomal Dominant 44 53 28 13 69
Dfna44 53 12 71
Autosomal Dominant Nonsyndromic Deafness 44 12 14
Deafness, Autosomal Dominant, 44 71
Autosomal Dominant Deafness 44 12

Characteristics:

OMIM:

53
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:

OMIM 53 607453
Disease Ontology 12 DOID:0110569
ICD10 32 H90.3
MedGen 39 C1843895
MeSH 41 D003638
SNOMED-CT via HPO 65 263681008 60700002
UMLS 69 C1843895

Summaries for Deafness, Autosomal Dominant 44

UniProtKB/Swiss-Prot : 71 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal dominant 12, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 44 is CCDC50 (Coiled-Coil Domain Containing 50), and among its related pathways/superpathways are Hepatitis C and G-protein signaling_Rap2B regulation pathway.

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.

Description from OMIM: 607453

Related Diseases for Deafness, Autosomal Dominant 44

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Dominant 44 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
2 deafness, autosomal dominant 12 9.7 CCDC50 COL11A2 EYA4
3 deafness, autosomal dominant 10 9.7 CCDC50 COL11A2 EYA4
4 spastic paraplegia 14, autosomal recessive 9.7 CCDC50 SNCA
5 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 CCDC50 COL11A2 EYA4
6 deafness, autosomal dominant 13 9.7 CCDC50 COL11A2 EYA4
7 usher syndrome, type iia 9.6 EGF EYA4
8 autosomal dominant nonsyndromic deafness 9.6 CCDC50 COL11A2 EYA4
9 chromosome 3q29 deletion syndrome 9.6 CCDC50 SNCA

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, postlingual progressive (mainly affecting 125hz to 2,000 hz)


Clinical features from OMIM:

607453

Human phenotypes related to Deafness, Autosomal Dominant 44:

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

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 28 CCDC50

Anatomical Context for Deafness, Autosomal Dominant 44

Publications for Deafness, Autosomal Dominant 44

Articles related to Deafness, Autosomal Dominant 44:

# Title Authors Year
1
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29. ( 12483295 )
2003

Variations for Deafness, Autosomal Dominant 44

ClinVar genetic disease variations for Deafness, Autosomal Dominant 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC50 CCDC50, 8-BP DUP, NT1394 duplication Pathogenic

Expression for Deafness, Autosomal Dominant 44

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

Pathways for Deafness, Autosomal Dominant 44

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

# Super pathways Score Top Affiliating Genes
1 11.07 CLDN16 EGF
2 9.7 COL11A2 EGF FGF12

GO Terms for Deafness, Autosomal Dominant 44

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.16 EGF SNCA
2 adult locomotory behavior GO:0008344 8.96 FGF12 SNCA
3 sensory perception of sound GO:0007605 8.8 CCDC50 COL11A2 EYA4

Sources for Deafness, Autosomal Dominant 44

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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