HIIMS
MCID: DFN366
MIFTS: 17

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

Categories: Ear diseases, Genetic 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; Hiims 57
Hearing Impairment Infertile Male Syndrome 57
Deafness, Autosomal Recessive 105 57
Dfnb32 57
Hiims 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 608653
MedGen 42 C1837608

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

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)

MalaCards based summary : Deafness, Autosomal Recessive 32, with or Without Immotile Sperm, also known as hearing impairment infertile male syndrome; hiims, is related to autosomal recessive nonsyndromic deafness 105 and perrault syndrome 1. An important gene associated with Deafness, Autosomal Recessive 32, with or Without Immotile Sperm is CDC14A (Cell Division Cycle 14A). Related phenotype is hearing impairment.

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 105 11.3
2 perrault syndrome 1 11.1
3 autosomal recessive nonsyndromic deafness 32 11.1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

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

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 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 GRCh37 Chromosome 1, 100889844: 100889844
10 CDC14A NM_033312.2(CDC14A): c.376delT (p.Tyr126Ilefs) deletion Pathogenic GRCh38 Chromosome 1, 100424288: 100424288
11 CDC14A NM_033312.2(CDC14A): c.839-3C> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 100933509: 100933509
12 CDC14A NM_033312.2(CDC14A): c.839-3C> G single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
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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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