Familial hyperthyroidism due to mutations in TSH receptor
Synonyms: Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperthyroidism due to mutations in TSH receptor | Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone |
| fr | Hyperthyroïdie familiale par mutation du récepteur de la TSH | Hyperthyroïdie non-immune familiale · Résistance à la TSH |
| de | Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form | Hyperthyreose, nicht-immune, familiäre Form · Syndrom der Resistenz gegen TSH |
| es | Hipertiroidismo familiar por mutaciones en el receptor de la TSH | Resistencia a la hormona estimulante de tiroides |
| it | Ipertiroidismo familiare da mutazioni del recettore TSH | Ipertiroidismo non immune familiare |
| nl | Familiale hyperthyreoïdie door mutaties in TSH-receptor | Familiale niet-immune hyperthyreoïdie · Resistentie tegen schildklierstimulerend hormoon |
| pt | Hipertiroidismo familiar por mutação no recetor da TSH | Resistência à TSH |
| pl | Rodzinna niedoczynność tarczycy spowodowana mutacją receptora TSH | Rodzinna nieimmunologiczna nadczynność tarczycy |
| cs | Familiární hypertyreoidismus způsobený mutacemi v TSH receptoru | Familiární neimunitní hypertyreoidismus · Rezistence vůči tyreotropnímu hormonu |
| uk | Сімейний гіпертиреоз внаслідок мутацій в рецепторі ТТГ | Сімейний неімунний гіпертиреоз · Резистентність до тиреотропного гормону |
| zh | TSH受体突变所致家族性甲亢 | 促甲状腺激素抵抗 |
| tr | TSH reseptöründeki mutasyonlara bağlı ailesel hipertiroidi | Ailesel immün olmayan hipertiroidi · Tiroid uyarıcı hormona direnç |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609152 | E | validated | |
| ICD-10 | E05.8 | NTBT | attributed | validated |
| ICD-11 | 5A02.Y | NTBT | index | validated |
| MONDO | 0012203 | E | validated | |
| UMLS | C4274306 | E | validated | |
| GARD | 2858 | 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 (2):
- ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:181399Rare hyperthyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSHR | Disease-causing germline mutation(s) in | Assessed | HGNC:12373 | ENSG00000165409 | 603372 | 14q24-q31 | thyroid stimulating hormone receptor | 24947036[PMID]_23295291[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Cases/families | 28 families | Worldwide | Family(ies) | Validated | [EXPERT] |
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
17 annotations · validated 2016-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011790 | Activating thyroid-stimulating hormone receptor (TSHR) defect | |
| HP:0000836 | Hyperthyroidism | |
| Very frequent (99-80%) | ||
| HP:0002014 | Diarrhea | |
| HP:0000853 | Goiter | |
| HP:0002378 | Hand tremor | |
| HP:0001518 | Small for gestational age | |
| HP:0008249 | Thyroid hyperplasia | |
| HP:0011784 | Thyrotoxicosis with diffuse goiter | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000713 | Agitation | |
| HP:0001263 | Global developmental delay | |
| HP:0000752 | Hyperactivity | |
| HP:0001270 | Motor delay | |
| HP:0002360 | Sleep abnormality | |
| Excluded (0%) | ||
| HP:0012372 | Abnormal eye morphology | |
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 26580241[PMID]_9267761[PMID]_9854118[PMID]_7800007[PMID]_8964822[PMID]_24947036[PMID]_7124278[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/424
- This record as JSON: /data/d/424.json