ORPHA:95712
Thyroid ectopia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thyroid ectopia | |
| fr | Ectopie thyroïdienne | |
| de | Schilddrüsenektopie | |
| es | Ectopia tiroidea | |
| it | Ectopia tiroidea | |
| nl | Ectopie van schildklier | Ectopie van thyroïd |
| pt | Ectopia da tiroide | |
| pl | Ektopia tarczycy | |
| cs | Ektopie štítné žlázy | |
| uk | Ектопія щитовидної залози | |
| zh | 甲状腺异位 | |
| tr | Tiroid ektopisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218700 | NTBT | validated | |
| OMIM | 225250 | BTNT | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.01 | NTBT | index | validated |
| MONDO | 0019854 | E | validated | |
| UMLS | C0345447 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95711Congenital hypothyroidism due to developmental anomaly
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8622 | ENSG00000125618 | 167415 | 2q14.1 | paired box 8 | 25214233[PMID]_25905381[PMID] |
| NKX2-5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 16418214[PMID]_25905381[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 14.3 / 100 000 | Europe | Value and class | 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.
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HPO phenotypes
26 annotations · validated 2023-08-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100028 | Ectopic thyroid | |
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0000271 | Abnormality of the face | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0000280 | Coarse facial features | |
| HP:0002019 | Constipation | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0100786 | Hypersomnia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0000952 | Jaundice | |
| HP:0000239 | Large fontanelles | |
| HP:0100029 | Lingual thyroid | |
| HP:0000158 | Macroglossia | |
| HP:0001324 | Muscle weakness | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:6000855 | Cold intolerance | |
| HP:0000958 | Dry skin | |
| HP:0012378 | Fatigue | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001609 | Hoarse voice | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30969714[PMID]_35841171[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95712
- This record as JSON: /data/d/95712.json