Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Synonyms: RTHa · Resistance to thyroid hormone alpha · Resistance to thyroid hormone due to a mutation in TRa
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare thyroid hormone signaling disorder characterized by a reduced T4/T3 ratio and normal levels of thyroid-stimulating hormone. The clinical phenotype variably includes neurodevelopmental delay (motor and cognitive), chronic constipation, anemia, disproportionate short stature and delayed bone age, skin tags, decreased metabolic rate, mild bradycardia, delayed teeth eruption and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, coarse facies, flattened nasal bridge, macroglossia, and thick lips can be present. Disease manifestations may vary from very mild to severe.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | RTHa · Resistance to thyroid hormone alpha · Resistance to thyroid hormone due to a mutation in TRa |
| fr | Résistance aux hormones thyroïdiennes par mutations du récepteur aux hormones thyroïdiennes alpha | RTHa · Résistance aux hormones thyroïdiennes alpha · Résistance aux hormones thyroïdiennes par mutations de TRa |
| de | Resistenz gegen Schilddrüsenhormone durch Mutation im Thyroidhormonrezeptor alpha | RTHa · Resistenz gegen Schilddrüsenhormone durch Mutation im TRa · Resistenz gegen Thyroidhormon alpha |
| es | Resistencia a la hormona tiroidea por una mutación en el receptor alfa de hormona tiroidea | RTHa · Resistencia a la hormona tiroidea por una mutación en TRa |
| it | Resistenza all'ormone tiroideo da mutazione nel recettore dell'ormone tiroideo alfa | RTHa · Resistenza all'ormone tiroideo alfa · Resistenza all'ormone tiroideo da mutazione di TRa |
| nl | Resistentie tegen thyroïdhormoon door een mutatie in thyroïdhormoonreceptor-alfa | RTHa · Resistentie tegen thyroïdhormoon door een mutatie in TRa · Resistentie tegen thyroïdhormoon-alfa |
| pt | Resistência a levotiroxina por mutação no recetor alfa da hormona tiroideia | |
| pl | Oporność na hormon tarczycy spowodowana mutacją receptora alfa hormonu tarczycy | Oporność na hormon tarczycy alpha · Oporność na hormon tarczycy z powodu mutacji w TRa |
| cs | Rezistence na hormony štítné žlázy způsobené mutací v receptoru alfa pro hormony štítné žlázy | = en |
| uk | Резистентність до гормонів щитовидної залози, зумовлена мутацією в рецепторі альфа-гормону щитовидної залози | Резистентність до альфа-гормону щитовидної залози · Резистентність до гормонів щитовидної залози через мутацію в TRa · RTHa |
| zh | 甲状腺激素受体α突变所致甲状腺激素的抵抗 | 甲状腺激素α抵抗 |
| tr | Tiroid hormonu reseptör alfa mutasyona bağlı olarak tiroid hormonuna direnç | TRa'daki mutasyona bağlı tiroid hormonuna direnç · RTHa · Tiroid hormonu alfa direnci |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614450 | E | validated | |
| ICD-10 | E03.8 | NTBT | attributed | validated |
| ICD-11 | 5A00.00 | NTBT | attributed | validated |
| MONDO | 0034216 | E | validated | |
| UMLS | C5680127 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:97927OBSOLETE: Peripheral resistance to thyroid hormones referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| THRA | Disease-causing germline mutation(s) in | Assessed | HGNC:11796 | ENSG00000126351 | 190120 | 17q21.1 | thyroid hormone receptor alpha | 25670821[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 30842990[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30842990[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/566231
- This record as JSON: /data/d/566231.json