ORPHA:95720
Thyroid hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development 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 hypoplasia | |
| fr | Hypoplasie de la thyroïde | |
| de | Schilddrüsenhypoplasie | Thyreoidea-Hypoplasie |
| es | Hipoplasia tiroidea | |
| it | Ipoplasia tiroidea | |
| nl | Hypoplasie van schildklier | Schildklierhypoplasie |
| pt | Hipoplasia da tiroide | |
| pl | Hipoplazja tarczycy | |
| cs | Hypoplázie štítné žlázy | |
| uk | Гіпоплазія щитовидної залози | |
| zh | 甲状腺发育不良 | |
| tr | Tiroid hipoplazisi |
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 | 0019861 | E | validated | |
| UMLS | C0151516 | E | validated | |
| GARD | 8426 | E | validated | |
| MedDRA | 10065938 | 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 (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.
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Genes
3 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 | 11232006[PMID]_11502839[PMID]_25146893[PMID]_25905381[PMID] |
| SLC26A4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8818 | ENSG00000091137 | 605646 | 7q22.3 | solute carrier family 26 member 4 | 24248179[PMID] |
| TSHR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12373 | ENSG00000165409 | 603372 | 14q24-q31 | thyroid stimulating hormone receptor | 25153578[PMID]_25905381[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 / 100 000 | Worldwide | 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| 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:0001510 | Growth delay | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0000952 | Jaundice | |
| HP:0000239 | Large fontanelles | |
| HP:0000158 | Macroglossia | |
| HP:0005990 | Thyroid hypoplasia | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95720
- This record as JSON: /data/d/95720.json