MCID: DFN039
MIFTS: 24

Deafness-Infertility Syndrome

Categories: Rare diseases, Reproductive diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Deafness-Infertility Syndrome

MalaCards integrated aliases for Deafness-Infertility Syndrome:

Name: Deafness-Infertility Syndrome 57 53 25 59 75 29 6 40
Chromosome 15q15.3 Deletion Syndrome 57 25 75 13
Dis 57 25 59 75
Deafness, Sensorineural, and Male Infertility 57 75 73
Sensorineural Deafness and Male Infertility 53 25
Deafness and Male Infertility 57

Characteristics:

Orphanet epidemiological data:

59
deafness-infertility syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness-infertility syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611102
Orphanet 59 ORPHA94064
UMLS via Orphanet 74 C1970187
ICD10 via Orphanet 34 Q93.5
MedGen 42 C1970187
UMLS 73 C1970187

Summaries for Deafness-Infertility Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94064Disease definitionDeafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.EpidemiologyIt has been reported in fewer than 5 families.EtiologyMale infertility is caused by abnormal spermatozoid morphology and motility. DIS is due to a contiguous genedeletion at chromosome 15q15.3 including 2 genesCATSPER2 and STRC, and is inherited in an autosomal recessive manner: affected males are homozygous for the deletion, parents are asymptomatic carriers and homozygous females are deaf but not infertile.Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness-Infertility Syndrome, also known as chromosome 15q15.3 deletion syndrome, is related to male infertility and infertility. An important gene associated with Deafness-Infertility Syndrome is CATSPER2 (Cation Channel Sperm Associated 2). Related phenotypes are azoospermia and sensorineural hearing impairment

Genetics Home Reference : 25 Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.

OMIM : 57 Deafness-infertility syndrome (DIS), characterized by early-onset deafness in both males and females and exclusive male infertility, is caused by homozygous deletion of the STRC and CATSPER2 genes on chromosome 15q15.5 (summary by Vona et al., 2015). (611102)

UniProtKB/Swiss-Prot : 75 Deafness-infertility syndrome: Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes.

Related Diseases for Deafness-Infertility Syndrome

Diseases related to Deafness-Infertility Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility 10.0
2 infertility 9.9
3 catsper-related male infertility 8.9 CATSPER2 STRC

Symptoms & Phenotypes for Deafness-Infertility Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural (bilateral, prelingual)

GenitourinaryInternal GenitaliaMale:
asthenoteratozoospermia


Clinical features from OMIM:

611102

Human phenotypes related to Deafness-Infertility Syndrome:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000027
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
4 bilateral sensorineural hearing impairment 32 HP:0008619
5 abnormal spermatogenesis 32 HP:0008669
6 reduced sperm motility 32 HP:0012207

Drugs & Therapeutics for Deafness-Infertility Syndrome

Search Clinical Trials , NIH Clinical Center for Deafness-Infertility Syndrome

Genetic Tests for Deafness-Infertility Syndrome

Genetic tests related to Deafness-Infertility Syndrome:

# Genetic test Affiliating Genes
1 Deafness-Infertility Syndrome 29 CATSPER2 STRC

Anatomical Context for Deafness-Infertility Syndrome

Publications for Deafness-Infertility Syndrome

Articles related to Deafness-Infertility Syndrome:

# Title Authors Year
1
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. ( 28317263 )
2017

Variations for Deafness-Infertility Syndrome

ClinVar genetic disease variations for Deafness-Infertility Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 del(15)(q15.1-q15.3) deletion Pathogenic
2 CATSPER2 NM_172095.3(CATSPER2): c.(?_718)-34_(843_?)-857del deletion Pathogenic GRCh37 Chromosome 15, 43929274: 43931260
3 CATSPER2 NM_172095.3(CATSPER2): c.(?_718)-34_(843_?)-857del deletion Pathogenic GRCh38 Chromosome 15, 43637076: 43639062

Expression for Deafness-Infertility Syndrome

Search GEO for disease gene expression data for Deafness-Infertility Syndrome.

Pathways for Deafness-Infertility Syndrome

GO Terms for Deafness-Infertility Syndrome

Cellular components related to Deafness-Infertility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 CATSPER2 STRC

Sources for Deafness-Infertility Syndrome

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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
Content
Loading form....