ORPHA:432
Normosmic congenital hypogonadotropic hypogonadism
Synonyms: Normosmic idiopathic hypogonadotropic hypogonadism · nIHH
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Normosmic congenital hypogonadotropic hypogonadism | Normosmic idiopathic hypogonadotropic hypogonadism · nIHH |
| fr | Hypogonadisme hypogonadotrope congénital sans anosmie | Hypogonadisme hypogonadotrope idiopathique sans anosmie · nIHH |
| de | Hypogonadismus, hypogonadotroper normosmischer, kongenitale Form | Normosmischer idiopathischer hypogonadotroper Hypogonadismus · nIHH |
| es | Hipogonadismo hipogonadotrópico normosómico congénito | Hipogonadismo hipogonadotrópico normosómico idiopático · nIHH |
| it | Ipogonadismo ipogonadotropo congenito normosmico | Deficit congenito isolato di gonadotropine · Insufficienza gonadotropica · Ipogonadismo ipogonadotropo idiopatico normosmico · nIHH |
| nl | Normosmisch congenitaal hypogonadotroop hypogonadisme | Normosmisch idiopathisch hypogonadotroop hypogonadisme · nIHH |
| pt | Hipogonadismo hipogonadotrópico congénito normósmico | Hipogonadismo hipogonadotrópico idiopático normósmico |
| pl | Wrodzony hipogonadyzm hipogonadotropowy z prawidłowym powonieniem | Hipogonadyzm hipogonadotropowy z prawidłowym powonieniem · Izolowany Niedobór gonadotropiny · Niedobór gonadotropiny · nIHH |
| cs | Normosmický vrozený hypogonadotropický hypogonadismus | Deficit gonadotropinu · Izolovaný vrozený deficit gonadotropinu · Normosmický idiopatický hypogonadotropní hypogonadismus · nIHH |
| uk | Нормосомний вроджений гіпогонадотропний гіпогонадизм | nIHH · Нормостенічний ідіопатичний гіпогонадотропний гіпогонадизм |
| zh | 嗅觉正常先天性低促性腺激素性性腺功能减退症 | 嗅觉正常-特发性低促性腺激素性性腺功能减退症 |
| tr | Normozmik Doğumsal hipogonadotropik hipogonadizm | nIHH · Gonadotropik eksiklik · İzole Doğumsal gonadotropin eksikliği · Normozmik idiyopatik hipogonadotropik hipogonadizm |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146110 | BTNT | validated | |
| OMIM | 147950 | NTBT | validated | |
| OMIM | 244200 | BTNT | validated | |
| OMIM | 308700 | BTNT | validated | |
| OMIM | 610628 | BTNT | validated | |
| OMIM | 612370 | BTNT | validated | |
| OMIM | 612702 | BTNT | validated | |
| OMIM | 614837 | BTNT | validated | |
| OMIM | 614838 | BTNT | validated | |
| OMIM | 614839 | BTNT | validated | |
| OMIM | 614840 | BTNT | validated | |
| OMIM | 614841 | BTNT | validated | |
| OMIM | 614842 | BTNT | validated | |
| OMIM | 614858 | BTNT | validated | |
| OMIM | 614880 | BTNT | validated | |
| OMIM | 615266 | BTNT | validated | |
| OMIM | 615269 | BTNT | validated | |
| OMIM | 615270 | BTNT | validated | |
| OMIM | 619755 | BTNT | validated | |
| ICD-10 | E23.0 | NTBT | inclusion | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0018555 | E | validated | |
| UMLS | C5680088 | 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:238666Isolated congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
4
Genes
19 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3686 | ENSG00000107831 | 600483 | 10q24.32 | fibroblast growth factor 8 | 18596921[PMID]_20463092[PMID] |
| FGFR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 17235395[PMID] |
| GNRHR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4421 | ENSG00000109163 | 138850 | 4q13.2 | gonadotropin releasing hormone receptor | 22918878[PMID] |
| HS6ST1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5201 | ENSG00000136720 | 604846 | 2q14.3 | heparan sulfate 6-O-sulfotransferase 1 | 21700882[PMID] |
| KISS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6341 | ENSG00000170498 | 603286 | 1q32.1 | KiSS-1 metastasis suppressor | 22335740[PMID] |
| KISS1R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4510 | ENSG00000116014 | 604161 | 19p13.3 | KISS1 receptor | 21193544[PMID] |
| PROK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18455 | ENSG00000163421 | 607002 | 3p13 | prokineticin 2 | 17959774[PMID]_18682503[PMID] |
| PROKR2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15836 | ENSG00000101292 | 607123 | 20p12.3 | prokineticin receptor 2 | 18682503[PMID] |
| TAC3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11521 | ENSG00000166863 | 162330 | 12q13.3 | tachykinin precursor 3 | 19079066[PMID] |
| TACR3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11528 | ENSG00000169836 | 162332 | 4q24 | tachykinin receptor 3 | 19079066[PMID] |
| CHD7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20626 | ENSG00000171316 | 608892 | 8q12.2 | chromodomain helicase DNA binding protein 7 | 18834967[PMID] |
| DUSP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:3072 | ENSG00000139318 | 602748 | 12q21.33 | dual specificity phosphatase 6 | 23643382[PMID] |
| EMX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3341 | ENSG00000170370 | 600035 | 10q26.11 | empty spiracles homeobox 2 | 41765865[PMID] |
| FGF17 | Disease-causing germline mutation(s) in | Assessed | HGNC:3673 | ENSG00000158815 | 603725 | 8p21.3 | fibroblast growth factor 17 | 23643382[PMID] |
| GNRH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4419 | ENSG00000147437 | 152760 | 8p21.2 | gonadotropin releasing hormone 1 | 20887715[PMID]_20389089[PMID] |
| NHLH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7818 | ENSG00000177551 | 162361 | 1p13.1 | nescient helix-loop-helix 2 | 35066646[PMID] |
| NSMF | Disease-causing germline mutation(s) in | Assessed | HGNC:29843 | ENSG00000165802 | 608137 | 9q34.3 | NMDA receptor synaptonuclear signaling and neuronal migration factor | |
| SPRY4 | Disease-causing germline mutation(s) in | Assessed | HGNC:15533 | ENSG00000187678 | 607984 | 5q31.3 | sprouty RTK signaling antagonist 4 | 23643382[PMID] |
| WDR11 | Disease-causing germline mutation(s) in | Assessed | HGNC:13831 | ENSG00000120008 | 606417 | 10q26.12 | WD repeat domain 11 | 20887964[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
38 annotations · validated 2016-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0008197 | Absence of pubertal development | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0000027 | Azoospermia | |
| HP:0003187 | Breast hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0003782 | Eunuchoid habitus | |
| HP:0000134 | Female hypogonadism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000802 | Impotence | |
| HP:0030019 | Increased female libido | |
| HP:0000026 | Male hypogonadism | |
| HP:0000054 | Micropenis | |
| HP:0011961 | Non-obstructive azoospermia | |
| HP:0000118 | Phenotypic abnormality | |
| HP:0000786 | Primary amenorrhea | |
| HP:0002231 | Sparse body hair | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0000002 | Abnormality of body height | |
| HP:0000739 | Anxiety | |
| HP:0000823 | Delayed puberty | |
| HP:0000716 | Depression | |
| HP:0000771 | Gynecomastia | |
| HP:0008724 | Hypoplasia of the ovary | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000869 | Secondary amenorrhea | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0012385 | Camptodactyly | |
| HP:0000175 | Cleft palate | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0000316 | Hypertelorism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23643382[PMID]_20887964[PMID]_15362570[PMID]_20332248[PMID]_19535795[PMID]_22335740[PMID]_23349759[PMID]_14573733[PMID]_12788881[PMID]_18596921[PMID]_18834967[PMID]_17034399[PMID]_9371856[PMID]_17761590[PMID]_26194704[PMID]_16500342[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/432
- This record as JSON: /data/d/432.json