ORPHA:597939
Euthyroid dysprealbuminemic hyperthyroxinemia
Synonyms: Euthyroid dystransthyretinemic hyperthyroxinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. Total and free T4 may be normal or elevated, but affected individuals are clinically euthyroid.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Euthyroid dysprealbuminemic hyperthyroxinemia | Euthyroid dystransthyretinemic hyperthyroxinemia |
| fr | Hyperthyroxinémie euthyroidienne par dyspré-albuminémie | Euthyroidie avec hyperthyroxinémie et défaut de la préalbumine |
| de | Hyperthyroxinämie, dystransthyretinämische euthyreote | |
| es | Hipertiroxinemia disprealbuminémica eutiroidea | |
| it | Ipertirossinemia disprealbuminemica eutiroidea | |
| nl | Euthyrotische hyperthyroxinemie met afwijkende serumwaarden voor transthyretine | |
| pt | Hipertiroxinémia eutiroide disprealbuminémica | |
| pl | Eutyreoza z dysprealbuinemiczną hipertyroksynemią | = en |
| cs | Eutyroidní dysprealbuminemická hypertyroxinemie | = en |
| uk | Еутиреоїдна диспреальбумінемічна гіпертироксинемія | Еутиреоїдна дистранстиретинемічна гіпертироксинемія |
| zh | Euthyroid dysprealbuminemic hyperthyroxinemia | = en |
| tr | Euthyroid dysprealbuminemic hyperthyroxinemia | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145680 | E | validated | |
| ICD-10 | E07.8 | NTBT | attributed | validated |
| ICD-11 | 5A0Y | NTBT | attributed | validated |
| MONDO | 0036045 | E | validated | |
| UMLS | C5680265 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTR | Disease-causing germline mutation(s) in | Assessed | HGNC:12405 | ENSG00000118271 | 176300 | 18q12.1 | transthyretin | 1979335[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 8784093[PMID]_15833783[PMID]_1979335[PMID]_31590893[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8784093[PMID]_15833783[PMID]_1979335[PMID]_31590893[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597939
- This record as JSON: /data/d/597939.json