ORPHA:94064
Deafness-infertility syndrome
Synonyms: DIS · Hearing loss-infertility syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-infertility syndrome | DIS · Hearing loss-infertility syndrome |
| fr | Syndrome de surdité-infertilité | |
| de | Schwerhörigkeit-Infertilitäts-Syndrom | DIS |
| es | Síndrome de sordera e infertilidad | DIS · Síndrome de hipoacusia e infertilidad |
| it | Sindrome sordità-infertilità | DIS |
| nl | Doofheid - infertiliteit-syndroom | DIS · Doofheid - onvruchtbaarheid-syndroom · Gehoorverlies - infertiliteit-syndroom |
| pt | Síndrome surdez-infertilidade | |
| pl | Zespół głuchota-bezpłodność | DIS |
| cs | Syndrom zahrnující hluchotu a neplodnost | DIS |
| uk | Синдром глухоти-безпліддя | DIS · Синдром втрати слуху-безпліддя |
| zh | 耳聋-不育综合征 | 听力丧失-不育综合征 |
| tr | Sağırlık kısırlık sendromu | DIS · İşitme kaybı-kısırlık sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611102 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0012621 | E | validated | |
| MeSH | C567010 | E | validated | |
| UMLS | C1970187 | E | validated | |
| GARD | 11911 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:399813Male infertility due to sperm motility disorder
rare genetic diseases; rare infertility disorders - ORPHA:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CATSPER2 | Role in the phenotype of | Assessed | HGNC:18810 | ENSG00000166762 | 607249 | 15q15.3 | cation channel sperm associated 2 | 17098888[PMID] |
| STRC | Role in the phenotype of | Assessed | HGNC:16035 | ENSG00000242866 | 606440 | 15q15.3 | stereocilin | 17098888[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 26011646[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26011646[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000027 | Azoospermia | |
| HP:0003251 | Male infertility | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94064
- This record as JSON: /data/d/94064.json