ORPHA:181387
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism | |
| fr | Maladie rare avec atteinte multisystémique et hypogonadisme hypogonadotrope congénital | |
| de | Seltene Störung mit multisystemischer Beteiligung und kongenitalen hypogonadotropen Hypogonadismus | Seltene Störung mit sekundärem Hypogonadismus |
| es | Enfermedad rara con afectación multisistémica e hipogonadismo hipogonadotrópico congénito | |
| it | Disturbo raro con ipogonadismo ipogonadotropo | Disturbo raro con ipogonadismo secondario |
| nl | Zeldzame aandoening met multisystemische betrokkenheid en congenitaal hypogonadotroop hypogonadisme | |
| pt | Síndrome com hipogonadismo hipogonadotrópico | |
| pl | Rzadka choroba z hipogonadyzmem hipogonadotropowym | Rzadka choroba z hipogonadyzmem wtórnym |
| cs | Vzácná porucha s hypogonadotropním hypogonadismem | Vzácná porucha se sekundárním hypogonadismem |
| uk | Рідкісне захворювання з мультисистемним ураженням та вродженим гіпогонадотропним гіпогонадизмом | |
| zh | 伴低促性腺素性功能减退的罕见病 | 伴继发性性腺机能减退的罕见病 |
| tr | Hipogonadotropik hipogonadizm ile seyreden nadir bozukluk | Sekonder hipogonadizm ile seyreden nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15890 | E | validated | |
| UMLS | C5680474 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:174590Congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
Children (19):
- ORPHA:157954ANE syndrome
- ORPHA:1180Ataxia-hypogonadism-choroidal dystrophy syndrome
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:1295Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome
- ORPHA:1173Cerebellar ataxia-hypogonadism syndrome
- ORPHA:2230Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
- ORPHA:2235Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- ORPHA:293967Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- ORPHA:2326Kallmann syndrome-heart disease syndrome
- ORPHA:2377Laurence-Moon syndrome
- ORPHA:2560Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- ORPHA:453533Polyendocrine-polyneuropathy syndrome
- ORPHA:739Prader-Willi syndrome
- ORPHA:398073Prader-Willi-like syndrome
- ORPHA:3464Woodhouse-Sakati syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/181387
- This record as JSON: /data/d/181387.json