DFNA78
MCID: DFN385
MIFTS: 17

Deafness, Autosomal Dominant 78 (DFNA78)

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

Aliases & Classifications for Deafness, Autosomal Dominant 78

MalaCards integrated aliases for Deafness, Autosomal Dominant 78:

Name: Deafness, Autosomal Dominant 78 57 6
Dfna78 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
congenital onset
de novo mutation (in some patients)
prelingual onset
motor delay resolves with age and may be due to vestibular dysfunction
non-syndromic disorder

Inheritance:
autosomal dominant


HPO:

31
deafness, autosomal dominant 78:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 619081
OMIM Phenotypic Series 57 PS124900
SNOMED-CT via HPO 68 263681008

Summaries for Deafness, Autosomal Dominant 78

OMIM® : 57 Autosomal dominant deafness-78 (DFNA78) is characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by Mutai et al., 2020). (619081) (Updated 05-Mar-2021)

MalaCards based summary : Deafness, Autosomal Dominant 78, also known as dfna78, is related to autosomal dominant nonsyndromic deafness 78. An important gene associated with Deafness, Autosomal Dominant 78 is SLC12A2 (Solute Carrier Family 12 Member 2). Related phenotypes are motor delay and profound sensorineural hearing impairment

Related Diseases for Deafness, Autosomal Dominant 78

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 78 11.0

Symptoms & Phenotypes for Deafness, Autosomal Dominant 78

Human phenotypes related to Deafness, Autosomal Dominant 78:

31
# Description HPO Frequency HPO Source Accession
1 motor delay 31 very rare (1%) HP:0001270
2 profound sensorineural hearing impairment 31 very rare (1%) HP:0011476

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Ears:
vestibular dysfunction (in some patients)
hearing loss, sensorineural, profound

Neurologic Central Nervous System:
motor delay, mild (in some patients)

Clinical features from OMIM®:

619081 (Updated 05-Mar-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 78

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 78

Genetic Tests for Deafness, Autosomal Dominant 78

Anatomical Context for Deafness, Autosomal Dominant 78

Publications for Deafness, Autosomal Dominant 78

Articles related to Deafness, Autosomal Dominant 78:

# Title Authors PMID Year
1
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. 6 57
32658972 2020
2
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. 57 6
32294086 2020
3
Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter. 57
10369265 1999

Variations for Deafness, Autosomal Dominant 78

ClinVar genetic disease variations for Deafness, Autosomal Dominant 78:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A2 NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) SNV Pathogenic 804307 rs1581138944 5:127512808-127512808 5:128177116-128177116
2 SLC12A2 NM_001046.3(SLC12A2):c.2930-2A>G SNV Pathogenic 804308 rs1581138932 5:127512795-127512795 5:128177103-128177103
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) SNV Pathogenic 804309 rs1581138965 5:127512829-127512829 5:128177137-128177137
4 SLC12A2 NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) SNV Pathogenic 804310 rs1581138934 5:127512802-127512802 5:128177110-128177110
5 SLC12A2 NM_001046.3(SLC12A2):c.2938G>A (p.Glu980Lys) SNV Pathogenic 984668 5:127512805-127512805 5:128177113-128177113

Expression for Deafness, Autosomal Dominant 78

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 78.

Pathways for Deafness, Autosomal Dominant 78

GO Terms for Deafness, Autosomal Dominant 78

Sources for Deafness, Autosomal Dominant 78

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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