DFNA44
MCID: DFN118
MIFTS: 30

Deafness, Autosomal Dominant 44 (DFNA44)

Categories: Blood diseases, 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 73
Dfna44 57 12 75
Autosomal Dominant Nonsyndromic Deafness 44 12 15
Deafness, Autosomal Dominant, Type 44 40
Deafness, Autosomal Dominant, 44 75
Autosomal Dominant Deafness 44 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 44:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607453
Disease Ontology 12 DOID:0110569
ICD10 33 H90.3
MedGen 42 C1843895
MeSH 44 D003638
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C1843895

Summaries for Deafness, Autosomal Dominant 44

UniProtKB/Swiss-Prot : 75 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 nonsyndromic deafness. 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. Related phenotype is sensorineural hearing impairment.

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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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 10.1
2 nonsyndromic deafness 10.1
3 deafness, autosomal dominant 12 10.0 CCDC50 COL11A2
4 spastic paraplegia 14, autosomal recessive 9.9 CCDC50 SNCA
5 deafness, autosomal dominant 10 9.9 CCDC50 COL11A2 EYA4
6 deafness, autosomal dominant 13 9.8 CCDC50 COL11A2 EYA4
7 autosomal dominant nonsyndromic deafness 9.8 CCDC50 COL11A2 EYA4
8 usher syndrome, type iia 9.8 EGF EYA4
9 chromosome 3q29 deletion syndrome 9.8 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 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 29 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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