MCID: DFN134
MIFTS: 20

Deafness, Autosomal Dominant 40

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

Aliases & Classifications for Deafness, Autosomal Dominant 40

MalaCards integrated aliases for Deafness, Autosomal Dominant 40:

Name: Deafness, Autosomal Dominant 40 53 28 13
Dfna40 53 12 71
Autosomal Dominant Nonsyndromic Deafness 40 12
Deafness, Autosomal Dominant, 40 71
Autosomal Dominant Deafness 40 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
diagnosis by age 15 months
based on a report of a family and 1 sporadic patient (last curated may 2015)


HPO:

31
deafness, autosomal dominant 40:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 616357
Disease Ontology 12 DOID:0110566
ICD10 32 H90.3
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008 60700002

Summaries for Deafness, Autosomal Dominant 40

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 40: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 40, is also known as dfna40, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 40 is CRYM (Crystallin Mu). Affiliated tissues include brain.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the CRYM gene on chromosome 16p12.

Description from OMIM: 616357

Related Diseases for Deafness, Autosomal Dominant 40

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

Symptoms & Phenotypes for Deafness, Autosomal Dominant 40

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, progressive, moderate to severe


Clinical features from OMIM:

616357

Human phenotypes related to Deafness, Autosomal Dominant 40:

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

Drugs & Therapeutics for Deafness, Autosomal Dominant 40

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 40

Genetic Tests for Deafness, Autosomal Dominant 40

Genetic tests related to Deafness, Autosomal Dominant 40:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 40 28 CRYM

Anatomical Context for Deafness, Autosomal Dominant 40

MalaCards organs/tissues related to Deafness, Autosomal Dominant 40:

38
Brain

Publications for Deafness, Autosomal Dominant 40

Variations for Deafness, Autosomal Dominant 40

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 40:

71
# Symbol AA change Variation ID SNP ID
1 CRYM p.Lys314Thr VAR_073781 rs104894512

ClinVar genetic disease variations for Deafness, Autosomal Dominant 40:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYM NM_001888.4(CRYM): c.945A> T (p.Ter315Tyr) single nucleotide variant Pathogenic rs104894509 GRCh38 Chromosome 16, 21258781: 21258781
2 CRYM NM_001888.4(CRYM): c.941A> C (p.Lys314Thr) single nucleotide variant Pathogenic rs104894512 GRCh37 Chromosome 16, 21270106: 21270106

Expression for Deafness, Autosomal Dominant 40

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 40.

Pathways for Deafness, Autosomal Dominant 40

GO Terms for Deafness, Autosomal Dominant 40

Sources for Deafness, Autosomal Dominant 40

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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