MCID: DFN039
MIFTS: 24

Deafness-Infertility Syndrome

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

Aliases & Classifications for Deafness-Infertility Syndrome

MalaCards integrated aliases for Deafness-Infertility Syndrome:

Name: Deafness-Infertility Syndrome 53 49 24 55 71 28
Chromosome 15q15.3 Deletion Syndrome 53 24 71 13
Dis 53 24 55 71
Deafness, Sensorineural, and Male Infertility 53 71 69
Sensorineural Deafness and Male Infertility 49 24
Deafness and Male Infertility 53

Characteristics:

Orphanet epidemiological data:

55
deafness-infertility syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
deafness-infertility syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 611102
Orphanet 55 ORPHA94064
UMLS via Orphanet 70 C1970187
ICD10 via Orphanet 33 Q93.5
MedGen 39 C1970187
UMLS 69 C1970187

Summaries for Deafness-Infertility Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/6/2011

MalaCards based summary : Deafness-Infertility Syndrome, also known as chromosome 15q15.3 deletion syndrome, is related to branchiootic syndrome 1 and infertility, and has symptoms including sensorineural hearing impairment, azoospermia and male infertility. An important gene associated with Deafness-Infertility Syndrome is CATSPER2 (Cation Channel Sperm Associated 2).

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

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 branchiootic syndrome 1 9.9
2 infertility 9.9
3 catsper-related male infertility 9.3 CATSPER2 STRC

Symptoms & Phenotypes for Deafness-Infertility Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural (bilateral, prelingual)

Genitourinary Internal Genitalia Male:
asthenoteratozoospermia


Clinical features from OMIM:

611102

Human phenotypes related to Deafness-Infertility Syndrome:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 azoospermia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000027
3 male infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0003251
4 abnormal spermatogenesis 31 HP:0008669
5 bilateral sensorineural hearing impairment 31 HP:0008619
6 reduced sperm motility 31 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 28 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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