ORPHA:566243
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Synonyms: RTHb · Resistance to thyroid hormone beta · Resistance to thyroid hormone due to a mutation in TRb
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | RTHb · Resistance to thyroid hormone beta · Resistance to thyroid hormone due to a mutation in TRb |
| fr | Résistance aux hormones thyroïdiennes par mutation du récepteur aux hormones thyroïdiennes bêta | RTHb · Résistance aux hormones thyroïdiennes bêta · Résistance aux hormones thyroïdiennes par mutations de TRb |
| de | Resistenz gegen Schilddrüsenhormone durch Mutation im Thyroidhormonrezeptor beta | RTHb · Resistenz gegen Schilddrüsenhormone durch Mutation im TRb · Resistenz gegen Thyroidhormon beta |
| es | Resistencia a la hormona tiroidea por una mutación en el receptor beta de hormona tiroidea | RTHb · Resistencia a la hormona tiroidea por una mutación en TRb |
| it | Resistenza all'ormone tiroideo da mutazione nel recettore dell'ormone tiroideo beta | RTHb · Resistenza all'ormone tiroideo beta · Resistenza all'ormone tiroideo da mutazione in TRb |
| nl | Resistentie tegen thyroïdhormoon door een mutatie in thyroïdhormoonreceptor-bèta | RTHb · Resistentie tegen thyroïdhormoon door een mutatie in TRb · Resistentie tegen thyroïdhormoon-bèta |
| pt | Resistência a levotiroxina por mutação no recetor beta da hormona tiroideia | |
| pl | Oporność na hormon tarczycy spowodowana mutacją receptora beta tarczycy | Oporność na hormon tarczycy beta · Oporność na hormon tarczycy z powodu mutacji w TRb |
| cs | Rezistence na hormony štítné žlázy způsobené mutací v receptoru beta pro hormony štítné žlázy | = en |
| uk | Резистентність до гормонів щитовидної залози, зумовлена мутацією бета-рецепторів гормонів щитовидної залози | Резистентність до гормону щитовидної залози бета · Резистентність до гормонів щитовидної залози через мутацію в TRb · RTHb |
| zh | 甲状腺激素受体β突变所致甲状腺激素的抵抗 | 甲状腺激素β抵抗 |
| tr | Tiroid hormonu reseptörü betadaki mutasyona bağlı tiroid hormonuna direnç | TRb'deki mutasyona bağlı tiroid hormonuna direnç · RTHb · Tiroid hormonu beta'ya direnç |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145650 | E | validated | |
| OMIM | 188570 | NTBT | validated | |
| OMIM | 274300 | NTBT | validated | |
| ICD-10 | E07.8 | NTBT | attributed | validated |
| ICD-11 | 5A00.00 | NTBT | index | validated |
| MONDO | 0034217 | E | validated | |
| UMLS | C1840364 | 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:596426Syndrome of reduced sensitivity to thyroid hormone
rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3221Generalized resistance to thyroid hormone moved to · inactive
- ORPHA:165994Pituitary resistance to thyroid hormone moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| THRB | Disease-causing germline mutation(s) in | Assessed | HGNC:11799 | ENSG00000151090 | 190160 | 3p24.2 | thyroid hormone receptor beta | 30976996[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | United States | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Japan | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.47 / 100 000 | United States | Value and class | Validated | 14517508[PMID]_31149222[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.4 / 100 000 | Japan | Value and class | Validated | ORPHANET_19542904[PMID]_31149222[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
20 annotations · validated 2024-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000853 | Goiter | |
| HP:0033075 | Inappropriately normal thyroid-stimulating hormone level | |
| HP:0033077 | Increased circulating free T4 concentration | |
| HP:0001649 | Tachycardia | |
| Frequent (79-30%) | ||
| HP:0032069 | Anti-thyroglobulin antibody positivity | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0034288 | Elevated circulating reverse T3 concentration | |
| HP:0000752 | Hyperactivity | |
| HP:0011788 | Increased circulating free T3 | |
| HP:0000403 | Recurrent otitis media | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0025484 | Increased circulating thyroglobulin concentration | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001962 | Palpitations | |
| HP:0000407 | Sensorineural hearing impairment | |
| Excluded (0%) | ||
| HP:0031098 | Decreased thyroid-stimulating hormone level | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25905160[PMID]_29892828[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/566243
- This record as JSON: /data/d/566243.json