ORPHA:2410
Hypergonadotropic hypogonadism-cataract syndrome
Synonyms: Lubinsky syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypergonadotropic hypogonadism-cataract syndrome | Lubinsky syndrome |
| fr | Syndrome d'hypogonadisme hypergonadotrope-cataracte | Syndrome de Lubinsky |
| de | Hypergonadotroper Hypogonadismus-Katarakt-Syndrom | Hypogonadismus - Katarakt |
| es | Síndrome de hipogonadismo hipergonadotrópico-cataratas | Síndrome de Lubinsky |
| it | Sindrome ipogonadismo ipergonadotropo-cataratta | Sindrome di Lubinsky |
| nl | Hypergonadotroop hypogonadisme - cataract-syndroom | Syndroom van Lubinsky |
| pt | Síndrome de hipogonadismo hipergonadotrópico-catarata | Síndrome Lubinsky |
| pl | Zespół hipogonadyzmu hipergonadotropowego i zaćmy | Zespół Lubinsky'ego |
| cs | Syndrom zahrnující hypergonadotropní hypogonadismus a katarakta | Lubinského syndrom |
| uk | Синдром гіпергонадотропного гіпогонадизму - катаракти | Синдром Любінського |
| zh | 促性腺激素分泌过多性腺机能减退-白内障综合征 | Lubinsky综合征 |
| tr | Hipergonadotropik hipogonadizm-katarakt sendromu | Lubinsky sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 240950 | E | validated | |
| ICD-10 | E29.1 | NTBT | attributed | validated |
| MONDO | 0009417 | E | validated | |
| MeSH | C543092 | E | validated | |
| UMLS | C1855859 | E | validated | |
| GARD | 298 | 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:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 6418006[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6418006[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
13 annotations · validated 2017-05-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000518 | Cataract | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| Very frequent (99-80%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0000144 | Decreased fertility | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000939 | Osteoporosis | |
| HP:0000786 | Primary amenorrhea | |
| HP:0008240 | Secondary growth hormone deficiency | |
| Frequent (79-30%) | ||
| HP:0002757 | Recurrent fractures | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0004322 | Short stature | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 6418006[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2410
- This record as JSON: /data/d/2410.json