DFNB66
MCID: DFN181
MIFTS: 27

Deafness, Autosomal Recessive 66 (DFNB66)

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

Aliases & Classifications for Deafness, Autosomal Recessive 66

MalaCards integrated aliases for Deafness, Autosomal Recessive 66:

Name: Deafness, Autosomal Recessive 66 57 29 13 6 73
Dfnb66 57 12 75
Autosomal Recessive Nonsyndromic Deafness 66 12 15
Deafness, Autosomal Recessive, Type 66 40
Deafness, Autosomal Recessive, 66 75
Autosomal Recessive Deafness 66 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
one consanguineous tunisian family has been reported (last curated june 2015)


HPO:

32
deafness, autosomal recessive 66:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610212
Disease Ontology 12 DOID:0110517
ICD10 33 H90.3
MedGen 42 C1857750
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C1857750

Summaries for Deafness, Autosomal Recessive 66

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 66: 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 Recessive 66, also known as dfnb66, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, autosomal recessive. An important gene associated with Deafness, Autosomal Recessive 66 is DCDC2 (Doublecortin Domain Containing 2). Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the DCDC2 gene on chromosome 6p22.

Description from OMIM: 610212

Related Diseases for Deafness, Autosomal Recessive 66

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 Recessive 66 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 deafness, autosomal recessive 10.1 DCDC2 LHFPL5
3 sclerosing cholangitis, neonatal 10.0 DCDC2 KAAG1
4 nephronophthisis 19 10.0 DCDC2 KAAG1
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 COL11A2 DCDC2 LHFPL5
6 nonsyndromic deafness 9.7 COL11A2 DCDC2 LHFPL5
7 deafness, autosomal recessive 53 9.7 COL11A2 LHFPL3 LHFPL5
8 deafness, autosomal recessive 67 9.7 COL11A2 LHFPL3 LHFPL5

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 66:



Diseases related to Deafness, Autosomal Recessive 66

Symptoms & Phenotypes for Deafness, Autosomal Recessive 66

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, profound


Clinical features from OMIM:

610212

Human phenotypes related to Deafness, Autosomal Recessive 66:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Recessive 66

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 66

Genetic Tests for Deafness, Autosomal Recessive 66

Genetic tests related to Deafness, Autosomal Recessive 66:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 66 29 DCDC2

Anatomical Context for Deafness, Autosomal Recessive 66

MalaCards organs/tissues related to Deafness, Autosomal Recessive 66:

41
Brain

Publications for Deafness, Autosomal Recessive 66

Variations for Deafness, Autosomal Recessive 66

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 66:

75
# Symbol AA change Variation ID SNP ID
1 DCDC2 p.Gln424Pro VAR_074667 rs794729665

ClinVar genetic disease variations for Deafness, Autosomal Recessive 66:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCDC2 NM_001195610.1(DCDC2): c.1271A> C (p.Gln424Pro) single nucleotide variant Pathogenic rs794729665 GRCh38 Chromosome 6, 24178385: 24178385
2 DCDC2 NM_001195610.1(DCDC2): c.1271A> C (p.Gln424Pro) single nucleotide variant Pathogenic rs794729665 GRCh37 Chromosome 6, 24178613: 24178613
3 DCDC2 NM_016356.4(DCDC2): c.529dup (p.Ile177Asnfs) duplication Pathogenic rs904944428 GRCh37 Chromosome 6, 24301971: 24301971
4 DCDC2 NM_016356.4(DCDC2): c.529dup (p.Ile177Asnfs) duplication Pathogenic rs904944428 GRCh38 Chromosome 6, 24301743: 24301743
5 DCDC2 NM_016356.4(DCDC2): c.855A> G (p.Ser285=) single nucleotide variant Benign/Likely benign rs141519329 GRCh38 Chromosome 6, 24278116: 24278116
6 DCDC2 NM_016356.4(DCDC2): c.855A> G (p.Ser285=) single nucleotide variant Benign/Likely benign rs141519329 GRCh37 Chromosome 6, 24278344: 24278344
7 DCDC2 NM_016356.4(DCDC2): c.355C> T (p.Pro119Ser) single nucleotide variant Uncertain significance rs1056029060 GRCh37 Chromosome 6, 24302266: 24302266
8 DCDC2 NM_016356.4(DCDC2): c.355C> T (p.Pro119Ser) single nucleotide variant Uncertain significance rs1056029060 GRCh38 Chromosome 6, 24302038: 24302038
9 DCDC2 NM_016356.4(DCDC2): c.1208G> A (p.Arg403His) single nucleotide variant Conflicting interpretations of pathogenicity rs139858268 GRCh38 Chromosome 6, 24178448: 24178448
10 DCDC2 NM_016356.4(DCDC2): c.1208G> A (p.Arg403His) single nucleotide variant Conflicting interpretations of pathogenicity rs139858268 GRCh37 Chromosome 6, 24178676: 24178676
11 DCDC2 NM_016356.4(DCDC2): c.294-13_294-10delGTTT deletion Benign rs374485384 GRCh38 Chromosome 6, 24353633: 24353636
12 DCDC2 NM_016356.4(DCDC2): c.294-13_294-10delGTTT deletion Benign rs374485384 GRCh37 Chromosome 6, 24353861: 24353864
13 DCDC2 NM_016356.4(DCDC2): c.1044C> T (p.Asp348=) single nucleotide variant Benign/Likely benign rs143313706 GRCh38 Chromosome 6, 24178612: 24178612
14 DCDC2 NM_016356.4(DCDC2): c.1044C> T (p.Asp348=) single nucleotide variant Benign/Likely benign rs143313706 GRCh37 Chromosome 6, 24178840: 24178840
15 DCDC2 NM_016356.4(DCDC2): c.454C> G (p.Pro152Ala) single nucleotide variant Benign rs33914824 GRCh38 Chromosome 6, 24301818: 24301818
16 DCDC2 NM_016356.4(DCDC2): c.454C> G (p.Pro152Ala) single nucleotide variant Benign rs33914824 GRCh37 Chromosome 6, 24302046: 24302046
17 DCDC2 NM_016356.4(DCDC2): c.183C> T (p.Ala61=) single nucleotide variant Benign rs33943110 GRCh37 Chromosome 6, 24357796: 24357796
18 DCDC2 NM_016356.4(DCDC2): c.183C> T (p.Ala61=) single nucleotide variant Benign rs33943110 GRCh38 Chromosome 6, 24357568: 24357568
19 DCDC2 NM_016356.4(DCDC2): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs904520404 GRCh38 Chromosome 6, 24302010: 24302010
20 DCDC2 NM_016356.4(DCDC2): c.383C> G (p.Ser128Ter) single nucleotide variant Pathogenic rs904520404 GRCh37 Chromosome 6, 24302238: 24302238
21 DCDC2 NM_016356.4(DCDC2): c.929G> C (p.Gly310Ala) single nucleotide variant Uncertain significance rs746447569 GRCh37 Chromosome 6, 24205324: 24205324
22 DCDC2 NM_016356.4(DCDC2): c.929G> C (p.Gly310Ala) single nucleotide variant Uncertain significance rs746447569 GRCh38 Chromosome 6, 24205096: 24205096
23 DCDC2 NM_016356.4(DCDC2): c.68G> T (p.Arg23Leu) single nucleotide variant Uncertain significance rs745333409 GRCh37 Chromosome 6, 24357911: 24357911
24 DCDC2 NM_016356.4(DCDC2): c.68G> T (p.Arg23Leu) single nucleotide variant Uncertain significance rs745333409 GRCh38 Chromosome 6, 24357683: 24357683

Expression for Deafness, Autosomal Recessive 66

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 66.

Pathways for Deafness, Autosomal Recessive 66

GO Terms for Deafness, Autosomal Recessive 66

Cellular components related to Deafness, Autosomal Recessive 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 9.16 DCDC2 DCX
2 microtubule GO:0005874 9.13 DCDC2 DCDC2B DCX
3 cortical actin cytoskeleton GO:0030864 8.62 DCDC2 DCDC2B

Biological processes related to Deafness, Autosomal Recessive 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.26 COL11A2 DCDC2
2 neuron migration GO:0001764 9.16 DCDC2 DCX
3 intracellular signal transduction GO:0035556 9.13 DCDC2 DCDC2B DCX
4 dendrite morphogenesis GO:0048813 8.62 DCDC2 DCX

Sources for Deafness, Autosomal Recessive 66

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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