DFNB32
MCID: DFN366
MIFTS: 23

Deafness, Autosomal Recessive 32, with or Without Immotile Sperm (DFNB32)

Categories: Ear diseases, Genetic diseases, Neuronal diseases, Reproductive diseases

Aliases & Classifications for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

MalaCards integrated aliases for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:

Name: Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 57
Hearing Impairment Infertile Male Syndrome 57 6
Dfnb32 57 72
Hiims 57 72
Deafness, Autosomal Recessive, 32, with or Without Immotile Sperm 72
Deafness, Autosomal Recessive 105, Formerly; Dfnb105, Formerly 57
Hearing Impairment Infertile Male Syndrome; Hiims 57
Hearing Impairment and Infertile Male Syndrome 72
Deafness, Autosomal Recessive 105, Formerly 57
Deafness, Autosomal Recessive 105 72
Dfnb105, Formerly 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset of deafness
deafness is progressive in some families
some affected men are infertile


HPO:

31
deafness, autosomal recessive 32, with or without immotile sperm:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 608653
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
MedGen 41 C1837608

Summaries for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 32, with or without immotile sperm: 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. DFNB32 is characterized by prelingual, progressive, moderate to profound sensorineural deafness. Some affected men are infertile.

MalaCards based summary : Deafness, Autosomal Recessive 32, with or Without Immotile Sperm, also known as hearing impairment infertile male syndrome, is related to autosomal recessive nonsyndromic deafness 32 and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 32, with or Without Immotile Sperm is CDC14A (Cell Division Cycle 14A). Related phenotypes are infertility and abnormal sperm morphology

OMIM® : 57 DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018). (608653) (Updated 20-May-2021)

Related Diseases for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Diseases related to Deafness, Autosomal Recessive 32, with or Without Immotile Sperm via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 32 11.0
2 branchiootic syndrome 1 10.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 deafness, autosomal dominant 37 9.9
5 male infertility 9.9
6 infertility 9.9
7 nonsyndromic hearing loss 9.9
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:



Diseases related to Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Symptoms & Phenotypes for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Human phenotypes related to Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 very rare (1%) HP:0000789
2 abnormal sperm morphology 31 very rare (1%) HP:0012864
3 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility (in some patients)
immotile sperm (in some patients)
abnormal sperm morphology (in some patients)

Head And Neck Ears:
deafness, sensorineural, moderate to profound

Clinical features from OMIM®:

608653 (Updated 20-May-2021)

Drugs & Therapeutics for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Genetic Tests for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Anatomical Context for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Publications for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Articles related to Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:

# Title Authors PMID Year
1
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. 6 57 61
12634867 2003
2
CDC14A phosphatase is essential for hearing and male fertility in mouse and human. 6 57
29293958 2018
3
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 6 57
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 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

ClinVar genetic disease variations for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:

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

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:

72
# Symbol AA change Variation ID SNP ID
1 CDC14A p.Arg312Gly VAR_081128 rs148737918
2 CDC14A p.Arg312Gln VAR_081129 rs369245990
3 CDC14A p.Gln320Pro VAR_081130 rs133970939

Expression for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm.

Pathways for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

GO Terms for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

Sources for Deafness, Autosomal Recessive 32, with or Without Immotile Sperm

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