MCID: ATS409
MIFTS: 23

Autosomal Recessive Nonsyndromic Deafness 32

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness 32

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness 32:

Name: Autosomal Recessive Nonsyndromic Deafness 32 12 15
Deafness, Autosomal Recessive 32 29 6 70
Deafness, Autosomal Recessive, Type 32 39
Autosomal Recessive Deafness 105 12
Autosomal Recessive Deafness 32 12
Dfnb32 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110491
ICD10 32 H90.3
UMLS 70 C1837608

Summaries for Autosomal Recessive Nonsyndromic Deafness 32

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness 32, also known as deafness, autosomal recessive 32, is related to branchiootic syndrome 1 and nonsyndromic hearing loss. An important gene associated with Autosomal Recessive Nonsyndromic Deafness 32 is CDC14A (Cell Division Cycle 14A).

Related Diseases for Autosomal Recessive Nonsyndromic Deafness 32

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 Autosomal Recessive Nonsyndromic Deafness 32 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.7 PJVK GPSM2
2 nonsyndromic hearing loss 29.1 PJVK GPSM2
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.8 PJVK OTOA GPSM2 CDC14A
4 deafness, autosomal recessive 32, with or without immotile sperm 11.5
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
6 deafness, autosomal dominant 37 9.9
7 male infertility 9.9
8 infertility 9.9
9 deafness, autosomal recessive 6 9.7 PJVK OTOA
10 deafness, autosomal recessive 35 9.7 PJVK OTOA
11 deafness, autosomal recessive 22 9.7 PJVK OTOA
12 deafness, autosomal recessive 21 9.7 PJVK OTOA
13 deafness, autosomal recessive 63 9.7 PJVK OTOA
14 deafness, autosomal recessive 12 9.6 PJVK OTOA
15 auditory system disease 9.6 PJVK OTOA
16 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 PJVK OTOA
17 autosomal dominant nonsyndromic deafness 9.5 PJVK OTOA
18 deafness, autosomal recessive 9.5 PJVK OTOA GPSM2
19 deafness, autosomal recessive 85 9.5 PJVK OTOA GPSM2
20 deafness, autosomal recessive 83 9.5 PJVK OTOA GPSM2
21 rare genetic deafness 9.3 PJVK OTOA GPSM2 CDC14A
22 deafness, autosomal recessive 1a 9.2 RBMXL1 PJVK OTOA NBPF4

Graphical network of the top 20 diseases related to Autosomal Recessive Nonsyndromic Deafness 32:



Diseases related to Autosomal Recessive Nonsyndromic Deafness 32

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness 32

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness 32

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Nonsyndromic Deafness 32

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness 32

Genetic tests related to Autosomal Recessive Nonsyndromic Deafness 32:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 32 29 CDC14A

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness 32

Publications for Autosomal Recessive Nonsyndromic Deafness 32

Articles related to Autosomal Recessive Nonsyndromic Deafness 32:

# Title Authors PMID Year
1
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. 6 61
12634867 2003
2
CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 6
29293958 2018
3
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 6
27259055 2016
4
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). 61
32231217 2020
5
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients. 61
31906439 2020

Variations for Autosomal Recessive Nonsyndromic Deafness 32

ClinVar genetic disease variations for Autosomal Recessive Nonsyndromic Deafness 32:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC14A NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) SNV Pathogenic 235145 rs876661408 GRCh37: 1:100949996-100949996
GRCh38: 1:100484440-100484440
2 CDC14A NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) SNV Pathogenic 235146 rs777112652 GRCh37: 1:100949885-100949885
GRCh38: 1:100484329-100484329
3 CDC14A NM_003672.4(CDC14A):c.376del (p.Tyr126fs) Deletion Pathogenic 559437 rs759201338 GRCh37: 1:100889844-100889844
GRCh38: 1:100424288-100424288
4 CDC14A NM_003672.4(CDC14A):c.839-3C>G SNV Pathogenic 559438 rs1553191001 GRCh37: 1:100933509-100933509
GRCh38: 1:100467953-100467953
5 CDC14A NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) SNV Pathogenic 559439 rs549556142 GRCh37: 1:100949903-100949903
GRCh38: 1:100484347-100484347
6 CDC14A NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) SNV Pathogenic 638290 rs771622183 GRCh37: 1:100905515-100905515
GRCh38: 1:100439959-100439959
7 CDC14A NM_003672.4(CDC14A):c.1696C>T (p.Arg566Ter) SNV Pathogenic 1031557 GRCh37: 1:100964759-100964759
GRCh38: 1:100499203-100499203
8 CDC14A NM_003672.4(CDC14A):c.694del (p.Tyr232fs) Deletion Pathogenic 1031558 GRCh37: 1:100928291-100928291
GRCh38: 1:100462735-100462735
9 CDC14A NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro) SNV Likely pathogenic 638289 rs1339709390 GRCh37: 1:100933632-100933632
GRCh38: 1:100468076-100468076
10 CDC14A NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) SNV Likely pathogenic 559435 rs369245990 GRCh37: 1:100933608-100933608
GRCh38: 1:100468052-100468052
11 CDC14A NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) SNV Likely pathogenic 559436 rs148737918 GRCh37: 1:100933607-100933607
GRCh38: 1:100468051-100468051
12 CDC14A NM_003672.4(CDC14A):c.1251-5C>T SNV Uncertain significance 1028516 GRCh37: 1:100961553-100961553
GRCh38: 1:100495997-100495997
13 CDC14A NM_003672.4(CDC14A):c.1745G>A (p.Arg582His) SNV Uncertain significance 1028517 GRCh37: 1:100964808-100964808
GRCh38: 1:100499252-100499252

Expression for Autosomal Recessive Nonsyndromic Deafness 32

Search GEO for disease gene expression data for Autosomal Recessive Nonsyndromic Deafness 32.

Pathways for Autosomal Recessive Nonsyndromic Deafness 32

GO Terms for Autosomal Recessive Nonsyndromic Deafness 32

Cellular components related to Autosomal Recessive Nonsyndromic Deafness 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle pole GO:0000922 8.62 CDC14A GPSM2

Biological processes related to Autosomal Recessive Nonsyndromic Deafness 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 PJVK OTOA CDC14A

Sources for Autosomal Recessive Nonsyndromic Deafness 32

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