Deafness-hypogonadism syndrome
historical
Synonyms: Hearing loss-hypogonadism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndromic genetic deafness characterized by progressive X-linked mixed deafness with with perilymphatic gusher, hypogonadism and abnormal behavior (including antisocial and immature behaviors). Partial heterochromia iridis may also be present in some patients. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-hypogonadism syndrome | Hearing loss-hypogonadism syndrome |
| fr | Syndrome de surdité-hypogonadisme | |
| de | Schwerhörigkeit-Hypogonadismus-Syndrom | |
| es | Síndrome de sordera-hipogonadismo | Síndrome de hipoacusia-hipogonadismo |
| it | Sordità - ipogonadismo | |
| nl | Doofheid - hypogonadisme-syndroom | Gehoorverlies - hypogonadisme-syndroom |
| pt | Surdez - hipogonadismo | |
| pl | Głuchota - hipogonadyzm | = en |
| cs | Syndrom zahrnující hluchotu a hypogonadismus | = en |
| uk | Синдром глухоти-гіпогонадизму | Синдром втрати слуху-гіпогонадизму |
| zh | 耳聋-性腺功能减退综合征 | 听觉丧失-性腺功能减退综合征 |
| tr | Sağırlık-hipogonadizm sendromu | İşitme kaybı-hipogonadizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304350 | E | validated | |
| ICD-10 | H90.6 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010575 | E | validated | |
| MeSH | C564435 | E | validated | |
| UMLS | C1844680 | E | validated | |
| GARD | 1691 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 6819099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6819099[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2016-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008669 | Abnormal spermatogenesis | |
| HP:0011384 | Abnormality of the internal auditory canal | |
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0011388 | Enlarged cochlear aqueduct | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0012717 | Severe conductive hearing impairment | |
| HP:0000381 | Stapes ankylosis | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0000286 | Epicanthus | |
| HP:0001100 | Heterochromia iridis | |
| HP:0000316 | Hypertelorism | |
| HP:0100503 | Low levels of vitamin B1 | |
Annotation source: 19438930[PMID]_20412083[PMID]_7839145[PMID]_1922747[PMID]_5442491[PMID]_6819099[PMID]_1683204[PMID]_1609803[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90646
- This record as JSON: /data/d/90646.json