MCID: DFN039
MIFTS: 24

Deafness-Infertility Syndrome

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

Aliases & Classifications for Deafness-Infertility Syndrome

MalaCards integrated aliases for Deafness-Infertility Syndrome:

Name: Deafness-Infertility Syndrome 54 50 24 25 56 71 29
Chromosome 15q15.3 Deletion Syndrome 24 25 71 13
Dis 24 25 56 71
Sensorineural Deafness and Male Infertility 50 24 25
Deafness, Sensorineural, and Male Infertility 71 69

Characteristics:

Orphanet epidemiological data:

56
deafness-infertility syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
deafness-infertility syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611102
Orphanet 56 ORPHA94064
UMLS via Orphanet 70 C1970187
ICD10 via Orphanet 34 Q93.5
MedGen 40 C1970187

Summaries for Deafness-Infertility Syndrome

NIH Rare Diseases : 50 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 male infertility and infertility, and has symptoms including azoospermia, sensorineural hearing impairment and male infertility. An important gene associated with Deafness-Infertility Syndrome is CATSPER2 (Cation Channel Sperm Associated 2).

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 : 54
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.

Related Diseases for Deafness-Infertility Syndrome

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

id Related Disease Score Top Affiliating Genes
1 male infertility 10.1
2 infertility 9.8
3 pseudohypoparathyroidism, type ii 9.5 CATSPER2 STRC

Symptoms & Phenotypes for Deafness-Infertility Syndrome

Symptoms via clinical synopsis from OMIM:

54

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:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000027
2 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 male infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0003251
4 reduced sperm motility 32 HP:0012207
5 abnormal spermatogenesis 32 HP:0008669
6 bilateral sensorineural hearing impairment 32 HP:0008619

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:

id Genetic test Affiliating Genes
1 Deafness-Infertility Syndrome 29 24 STRC

Anatomical Context for Deafness-Infertility Syndrome

Publications for Deafness-Infertility Syndrome

Articles related to Deafness-Infertility Syndrome:

id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 del(15)(q15.1-q15.3) deletion Pathogenic
2 CATSPER2 NM_172095.2(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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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