DFNB32
MCID: DFN366
MIFTS: 20

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 58 76
Dfnb32 58 76
Hiims 58 76
Deafness, Autosomal Recessive 105, Formerly; Dfnb105, Formerly 58
Hearing Impairment Infertile Male Syndrome; Hiims 58
Hearing Impairment and Infertile Male Syndrome 76
Deafness, Autosomal Recessive 105, Formerly 58
Hearing Impairment Infertile Male Syndrome 58
Deafness, Autosomal Recessive 105 76
Dfnb105, Formerly 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
deafness, autosomal recessive 32, with or without immotile sperm:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 dfnb32, is related to autosomal recessive nonsyndromic deafness 32 and cone-rod dystrophy and hearing loss 2. An important gene associated with Deafness, Autosomal Recessive 32, with or Without Immotile Sperm is CDC14A (Cell Division Cycle 14A). Affiliated tissues include brain, and related phenotypes are infertility and abnormal sperm morphology

OMIM : 58 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)

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 11.5
2 cone-rod dystrophy and hearing loss 2 11.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
4 nonsyndromic deafness 10.1

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:

33
# Description HPO Frequency HPO Source Accession
1 infertility 33 very rare (1%) HP:0000789
2 abnormal sperm morphology 33 very rare (1%) HP:0012864
3 hearing impairment 33 HP:0000365

Symptoms via clinical synopsis from OMIM:

58
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

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

MalaCards organs/tissues related to Deafness, Autosomal Recessive 32, with or Without Immotile Sperm:

42
Brain

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 Year
1
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. ( 12634867 )
2003

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

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

76
# Symbol AA change Variation ID SNP ID
1 CDC14A p.Arg312Gly VAR_081128
2 CDC14A p.Arg312Gln VAR_081129 rs369245990
3 CDC14A p.Gln320Pro VAR_081130 rs133970939

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC14A NM_033312.2(CDC14A): c.1126C> T (p.Arg376Ter) single nucleotide variant Pathogenic rs876661408 GRCh37 Chromosome 1, 100949996: 100949996
2 CDC14A NM_033312.2(CDC14A): c.1126C> T (p.Arg376Ter) single nucleotide variant Pathogenic rs876661408 GRCh38 Chromosome 1, 100484440: 100484440
3 CDC14A NM_033312.2(CDC14A): c.1015C> T (p.Arg339Ter) single nucleotide variant Pathogenic rs777112652 GRCh37 Chromosome 1, 100949885: 100949885
4 CDC14A NM_033312.2(CDC14A): c.1015C> T (p.Arg339Ter) single nucleotide variant Pathogenic rs777112652 GRCh38 Chromosome 1, 100484329: 100484329
5 CDC14A NM_033312.2(CDC14A): c.935G> A (p.Arg312Gln) single nucleotide variant Pathogenic rs369245990 GRCh38 Chromosome 1, 100468052: 100468052
6 CDC14A NM_033312.2(CDC14A): c.935G> A (p.Arg312Gln) single nucleotide variant Pathogenic rs369245990 GRCh37 Chromosome 1, 100933608: 100933608
7 CDC14A NM_033312.2(CDC14A): c.934C> G (p.Arg312Gly) single nucleotide variant Pathogenic rs148737918 GRCh37 Chromosome 1, 100933607: 100933607
8 CDC14A NM_033312.2(CDC14A): c.934C> G (p.Arg312Gly) single nucleotide variant Pathogenic rs148737918 GRCh38 Chromosome 1, 100468051: 100468051
9 CDC14A NM_033312.2(CDC14A): c.376delT (p.Tyr126Ilefs) deletion Pathogenic rs759201338 GRCh37 Chromosome 1, 100889844: 100889844
10 CDC14A NM_033312.2(CDC14A): c.376delT (p.Tyr126Ilefs) deletion Pathogenic rs759201338 GRCh38 Chromosome 1, 100424288: 100424288
11 CDC14A NM_033312.2(CDC14A): c.839-3C> G single nucleotide variant Pathogenic rs1553191001 GRCh37 Chromosome 1, 100933509: 100933509
12 CDC14A NM_033312.2(CDC14A): c.839-3C> G single nucleotide variant Pathogenic rs1553191001 GRCh38 Chromosome 1, 100467953: 100467953
13 CDC14A NM_033312.2(CDC14A): c.1033C> T (p.Arg345Ter) single nucleotide variant Pathogenic rs549556142 GRCh37 Chromosome 1, 100949903: 100949903
14 CDC14A NM_033312.2(CDC14A): c.1033C> T (p.Arg345Ter) single nucleotide variant Pathogenic rs549556142 GRCh38 Chromosome 1, 100484347: 100484347

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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