ORPHA:99832
Resistance to thyrotropin-releasing hormone syndrome
Synonyms: Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Resistance to thyrotropin-releasing hormone syndrome | Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome |
| fr | Syndrome de résistance à la thyréolibérine | Hypothyroïdie centrale due à un déficit du récepteur de la TRH · Syndrome de résistance à la TRH hypothalamique |
| de | Thyrotropin-Releasing-Hormon (TRH)-Resistenz | THR Resistenz-Syndrom · Zentrale Hypothyreose durch TRH-Rezeptor-Mangel |
| es | Síndrome de resistencia a la hormona liberadora de tirotropina | Hipotiroidismo central por deficiencia del receptor TRH · Síndrome de resistencia a la TRH |
| it | Sindrome da resistenza all'ormone di rilascio della tireotropina | Ipotiroidismo centrale da deficit del recettore del TRH · Sindrome da resistenza al THR |
| nl | Resistentie tegen thyrotropinevrijmakend hormoon-syndroom | Centrale hypothyreoïdie door deficiëntie van TRH-receptor · Resistentie tegen thyrotropine-'releasing' hormoon-syndroom · THR-resistentiesyndroom |
| pt | Resistência generalizada à hormona libertadora de tireotropina | |
| pl | Zespół oporności na hormon tyreotropowy | Ośrodkowa niedoczynność tarczycy z powodu niedoboru receptorów TRH · Zespół oporności na THR |
| cs | Syndrom rezistence k tyreotropin-releasing hormonu | Syndrom TRH rezistence · Centrální hypotyreóza způsobená deficitem TRH receptoru |
| uk | Синдром стійкості до тиреотропного гормону | Центральний гіпотиреоз внаслідок дефіциту рецепторів ТТГ · Синдром резистентності до ТТГ |
| zh | 甲状腺激素释放激素抵抗综合征 | TRH受体缺陷所致中枢性甲状腺功能减退 |
| tr | Tirotropin salgılayan hormon sendromuna direnç | TRH direnç sendromu · TRH reseptör eksikliğine bağlı santral hipotiroidi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618573 | E | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.01 | NTBT | index | validated |
| MONDO | 0032819 | E | validated | |
| UMLS | C1861106 | 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 (1):
- ORPHA:226298Central congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRHR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12299 | ENSG00000174417 | 188545 | 8q23.1 | thyrotropin releasing hormone receptor | 20537182[PMID]_22851492[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19213692[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 19213692[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
23 annotations · validated 2021-06-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0025483 | Abnormal circulating thyroglobulin concentration | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0032210 | Decreased circulating free T3 | |
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000716 | Depression | |
| HP:0000958 | Dry skin | |
| HP:0012378 | Fatigue | |
| HP:0001510 | Growth delay | |
| HP:0001609 | Hoarse voice | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0001254 | Lethargy | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0025502 | Overweight | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0008202 | Reduced circulating prolactin concentration | |
| HP:0031219 | Reduced radioactive iodine uptake | |
| HP:0005990 | Thyroid hypoplasia | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0000853 | Goiter | |
| HP:0011437 | Maternal autoimmune disease | |
Annotation source: 19213692[PMID]_20537182[PMID]_28549061[PMID]_26416826[PMID]_30374425[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99832
- This record as JSON: /data/d/99832.json