DIS
MCID: DFN039
MIFTS: 28

Deafness-Infertility Syndrome (DIS)

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

Aliases & Classifications for Deafness-Infertility Syndrome

MalaCards integrated aliases for Deafness-Infertility Syndrome:

Name: Deafness-Infertility Syndrome 56 52 25 58 73 29 6 39
Dis 56 25 58 73
Deafness, Sensorineural, and Male Infertility 56 73 71
Chromosome 15q15.3 Deletion Syndrome 56 25 73
Sensorineural Deafness and Male Infertility 52 25
Deafness and Male Infertility 56 13

Characteristics:

Orphanet epidemiological data:

58
deafness-infertility syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness-infertility syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 611102
ICD10 via Orphanet 33 Q93.5
UMLS via Orphanet 72 C1970187
Orphanet 58 ORPHA94064
MedGen 41 C1970187
UMLS 71 C1970187

Summaries for Deafness-Infertility Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94064 Definition Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. Epidemiology It has been reported in fewer than 5 families. Etiology Male infertility is caused by abnormal spermatozoid morphology and motility. DIS is due to a contiguous gene deletion at chromosome 15q15.3 including 2 genes CATSPER2 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 dis, is related to male infertility and infertility. An important gene associated with Deafness-Infertility Syndrome is STRC (Stereocilin). Affiliated tissues include testes, and related phenotypes are sensorineural hearing impairment and azoospermia

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 : 56 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 : 73 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

Graphical network of the top 20 diseases related to Deafness-Infertility Syndrome:



Diseases related to Deafness-Infertility Syndrome

Symptoms & Phenotypes for Deafness-Infertility Syndrome

Human phenotypes related to Deafness-Infertility Syndrome:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
3 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
4 abnormal spermatogenesis 31 HP:0008669
5 reduced sperm motility 31 HP:0012207
6 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, sensorineural (bilateral, prelingual)

Genitourinary Internal Genitalia Male:
asthenoteratozoospermia

Clinical features from OMIM:

611102

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

MalaCards organs/tissues related to Deafness-Infertility Syndrome:

40
Testes

Publications for Deafness-Infertility Syndrome

Articles related to Deafness-Infertility Syndrome:

# Title Authors PMID Year
1
CATSPER-Related Male Infertility 61 6
20301780 2009
2
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. 61 56
17098888 2007
3
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. 56
26011646 2015
4
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. 56
19246478 2009
5
CATSPER2, a human autosomal nonsyndromic male infertility gene. 56
12825070 2003
6
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. 56
12434312 2002
7
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. 61
28317263 2017
8
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3. 61
23648117 2013

Variations for Deafness-Infertility Syndrome

ClinVar genetic disease variations for Deafness-Infertility Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 del(15)(q15.1-q15.3)deletion Pathogenic 41402
2 CATSPER2 , CKMT1B , STRC deletion Pathogenic 598749 15:43890409-43939642
3 CATSPER2 NC_000015.10:g.(?_43638998)_(43639062_?)deldeletion Pathogenic 667392 15:43931196-43931260
4 STRC NM_153700.2(STRC):c.4219-1G>ASNV Pathogenic/Likely pathogenic 505435 rs748854592 15:43896351-43896351 15:43604153-43604153

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

Sources for Deafness-Infertility Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....