ORPHA:238670
Isolated thyrotropin-releasing hormone deficiency
Synonyms: Isolated TRF deficiency · Isolated TRH deficiency · Isolated TSH-releasing factor deficiency · Isolated prothyroliberin deficiency · Isolated protirelin deficiency · Isolated thyroliberin deficiency · Isolated thyrotropin-releasing factor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated thyrotropin-releasing hormone deficiency | Isolated TRF deficiency · Isolated TRH deficiency · Isolated TSH-releasing factor deficiency · Isolated prothyroliberin deficiency · Isolated protirelin deficiency · Isolated thyroliberin deficiency · Isolated thyrotropin-releasing factor deficiency |
| fr | Déficit isolé en hormone de libération de la thyrotropine | Déficit isolé en TRF · Déficit isolé en TRH · Déficit isolé en facteur de libération de la TSH · Déficit isolé en prothyrolibérine · Déficit isolé en protiréline · Déficit isolé en thyrolibérine |
| de | Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter | Prothyroliberin-Mangel, isolierter · Protirelin-Mangel, isolierter · TRF-Mangel, isolierter · TRH-Mangel, isolierter · Thyroliberin-Mangel, isolierter |
| es | Deficiencia aislada de hormona liberadora de tirotropina | Deficiencia aislada de TRF · Deficiencia aislada de TRH · Deficiencia aislada de factor liberador de TSH · Deficiencia aislada de factor liberador de tirotropina · Deficiencia aislada de pro-tiroliberina · Deficiencia aislada de protirelina · Deficiencia aislada de tiroliberina |
| it | Deficit isolato dell'ormone di rilascio della tireotropina | Deficit isolato del fattore di rilascio della tireotropina · Deficit isolato del fattore di rilascio di TSH · Deficit isolato di TRF · Deficit isolato di TRH · Deficit isolato di protirelina · Deficit isolato di protireoliberina · Deficit isolato di tireoliberina |
| nl | Geïsoleerde deficiëntie van thyrotropinevrijmakend hormoon | Geïsoleerde deficiëntie van prothyroliberine · Geïsoleerde deficiëntie van protireline · Geïsoleerde deficiëntie van thyroliberine · Geïsoleerde deficiëntie van thyrotropine-'releasing' factor · Geïsoleerde prothyroliberineGeïsoleerde deficiëntie van TSH-vrijmakende factor · Geïsoleerde TRF-deficiëntie · Geïsoleerde TRH-deficiëntie · Geïsoleerde deficiëntie van TSH-'releasing' factor · Geïsoleerde deficiëntie van TSH-vrijmakende factor |
| pt | Deficiência de hormona libertadora de tireotropina isolada | |
| pl | Izolowany Niedobór czynnika uwalniającego tyreotropinę | Izolowany Niedobór czynnika uwalniającego TSH · Izolowany Niedobór czynnika uwalniającego tyreotropinę · Izolowany Niedobór protyreliny · Izolowany Niedobór protyreoliberyny · Izolowany Niedobór TRF · Izolowany Niedobór TRH · Izolowany Niedobór tyreoliberyny |
| cs | Izolovaný deficit hormonu produkujícího thyrotropin | Izolovaný deficit TRF · Izolovaný deficit TRH · Izolovaný deficit faktoru produkujícího TSH · Izolovaný deficit prothyroliberinu · Izolovaný deficit protirelinu · Izolovaný deficit thyroliberinu · Izolovaný deficit faktoru produkujícího thyrotropin |
| uk | Ізольований дефіцит тиреотропного гормону | Ізольований дефіцит протіроліберину · Ізольований дефіцит протіреліну · Ізольований дефіцит тироліберину · Ізольований дефіцит тиреотропного рилізинг-фактора · Ізольований дефіцит ТРФ · Ізольований дефіцит ТРГ · Ізольований дефіцит ТТГ-рилізинг-фактора |
| zh | 孤立性促甲状腺激素释放激素缺乏症 | 孤立性促甲状腺激素释放激素缺乏症 |
| tr | İzole tirotropin-salgılayan hormon eksikliği | İzole TRF eksikliği · İzole TRH eksikliği · İzole protirelin eksikliği · İzole tiroliberin eksikliği · İzole protiroliberin eksikliği · İzole TSH-salgılayan faktör eksikliği · İzole tirotropin-salgılayan faktör eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275120 | E | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.01 | NTBT | index | validated |
| MONDO | 0010140 | E | validated | |
| UMLS | C0271585 | 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:226298Central congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRH | Candidate gene tested in | Not yet assessed | HGNC:12298 | ENSG00000170893 | 613879 | 3q22.1 | thyrotropin releasing hormone | 20687402[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
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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/238670
- This record as JSON: /data/d/238670.json