Familial gestational hyperthyroidism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial gestational hyperthyroidism | |
| fr | Hyperthyroïdie gestationnelle | |
| de | Hyperthyreose, familiäre schwangerschaftsbedingte | |
| es | Hipertiroidismo familiar gestacional | |
| it | Ipertiroidismo gestazionale familiare | |
| nl | Familiale gestationele hyperthyreoïdie | |
| pt | Hipertiroidismo gestacional familiar | |
| pl | Rodzinna ciążowa nadczynność tarczycy | |
| cs | Familiární gestační tyreotoxikóza | |
| uk | Сімейний гестаційний гіпертиреоз | |
| zh | 家族性妊娠性甲状腺功能亢进症 | |
| tr | Ailesel gebelik hipertiroidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603373 | E | validated | |
| ICD-10 | E05.8 | NTBT | attributed | validated |
| ICD-10 | O99.2 | NTBT | attributed | validated |
| ICD-11 | 5A02.Y | NTBT | index | validated |
| MONDO | 0011309 | E | validated | |
| MeSH | C566384 | E | validated | |
| UMLS | C1863959 | 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:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases - 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 | 9854118[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
15 annotations · validated 2016-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011790 | Activating thyroid-stimulating hormone receptor (TSHR) defect | |
| HP:0012188 | Hyperemesis gravidarum | |
| HP:0000836 | Hyperthyroidism | |
| Very frequent (99-80%) | ||
| HP:0002014 | Diarrhea | |
| HP:0000853 | Goiter | |
| HP:0002378 | Hand tremor | |
| HP:0008249 | Thyroid hyperplasia | |
| HP:0011784 | Thyrotoxicosis with diffuse goiter | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0000713 | Agitation | |
| HP:0000752 | Hyperactivity | |
| HP:0001270 | Motor delay | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0000520 | Proptosis | |
| Excluded (0%) | ||
| 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/99819
- This record as JSON: /data/d/99819.json