ORPHA:174590
Congenital hypogonadotropic hypogonadism
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- 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 | Congenital hypogonadotropic hypogonadism | |
| fr | Hypogonadisme hypogonadotrope congénital | |
| de | Hypogonadotroper Hypogonadismus, kongenitaler | |
| es | Hipogonadismo hipogonadotrópico congénito | |
| it | Ipogonadismo ipogonadotropo congenito | |
| nl | Congenitaal hypogonadotroop hypogonadisme | |
| pt | Hipogonadismo hipogonadotrópico congénito | |
| pl | Wrodzony hipogonadyzm hipogonadotropowy | |
| cs | Vrozený hypogonadotropní hypogonadismus | |
| uk | Вроджений гіпогонадотропний гіпогонадизм | |
| zh | 先天性低促性腺激素性性腺功能减退症 | |
| tr | Doğumsal hipogonadotropik hipogonadizm |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015770 | E | validated | |
| MONDO | 15770 | E | validated | |
| UMLS | C3899503 | E | validated | |
| MedDRA | 10083932 | 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 (5):
- ORPHA:180208Anomaly of puberty or/and menstrual cycle
rare gynecological and obstetric diseases - ORPHA:202940Anomaly of puberty or/and menstrual cycle of genetic origin
rare genetic diseases - ORPHA:95488Non-acquired pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:399572Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
rare infertility disorders - ORPHA:399983Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases
Children (4):
- ORPHA:181390Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
- ORPHA:238666Isolated congenital hypogonadotropic hypogonadism
- ORPHA:52901Isolated follicle stimulating hormone deficiency
- ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/174590
- This record as JSON: /data/d/174590.json