Thyroid hemiagenesis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thyroid hemiagenesis | |
| fr | Hémiagénésie de la thyroïde | |
| de | Schilddrüsenhemiagenesie | |
| es | Hemiagenesia tiroidea | |
| it | Emiagenesia tiroidea | |
| nl | Hemiagenesie van schildklier | |
| pt | Hemiagenesia da tiroide | |
| pl | Hemiagenezja tarczycy | |
| cs | Hemiageneze štítné žlázy | |
| uk | Тиреоїдний геміагенез | |
| zh | 甲状腺偏侧缺如症 | |
| tr | Tiroid hemiagenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218700 | NTBT | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.01 | NTBT | index | validated |
| MONDO | 0019860 | E | validated | |
| UMLS | C4023190 | E | validated | |
| MedDRA | 10077609 | 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:95711Congenital hypothyroidism due to developmental anomaly
rare genetic diseases; rare endocrine diseases - ORPHA:95718Congenital thyroid malformation without hypothyroidism
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Worldwide | Value and class | Not yet validated | 19016002[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
27 annotations · validated 2023-08-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011780 | Thyroid hemiagenesis | |
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0000271 | Abnormality of the face | |
| HP:0000280 | Coarse facial features | |
| HP:0002019 | Constipation | |
| HP:0012378 | Fatigue | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0100786 | Hypersomnia | |
| HP:0001252 | Hypotonia | |
| HP:0000952 | Jaundice | |
| HP:0000239 | Large fontanelles | |
| HP:0000158 | Macroglossia | |
| HP:0008191 | Thyroid agenesis | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:0032069 | Anti-thyroglobulin antibody positivity | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0011788 | Increased circulating free T3 | |
| HP:0000854 | Thyroid adenoma | |
| HP:0025388 | Thyroid nodule | |
| Occasional (29-5%) | ||
| HP:0100647 | Graves disease | |
| HP:0000843 | Hyperparathyroidism | |
| HP:0002895 | Papillary thyroid carcinoma | |
| Very rare (<4-1%) | ||
| HP:0006731 | Follicular thyroid carcinoma | |
| HP:0002865 | Medullary thyroid carcinoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 35371763[PMID]_28666345[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95719
- This record as JSON: /data/d/95719.json