DFNB32
MCID: DFN366
MIFTS: 19

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:



External Ids:

OMIM 58 608653
MeSH 45 D006319
MedGen 43 C1837608

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 perrault syndrome 1 and autosomal recessive nonsyndromic deafness 32. 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 phenotype is hearing impairment.

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 perrault syndrome 1 11.2
2 autosomal recessive nonsyndromic deafness 32 11.1
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2

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 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

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 GRCh37 Chromosome 1, 100933608: 100933608
6 CDC14A NM_033312.2(CDC14A): c.935G> A (p.Arg312Gln) single nucleotide variant Pathogenic rs369245990 GRCh38 Chromosome 1, 100468052: 100468052
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....