ORPHA:226316
Genetic transient congenital hypothyroidism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic transient congenital hypothyroidism | |
| fr | Hypothyroïdie congénitale transitoire génétique | |
| de | Hypothyreose, kongenitale, durch heterozygote THOX2-Genmutationen | |
| es | Hipotiroidismo congénito genético transitorio | |
| it | Ipotiroidismo congenito genetico transitorio | |
| nl | Genetische transiënte congenitale hypothyreoïdie | |
| pt | Hipotiroidismo congénito por mutações em heterozigotia no gene THOX2 | |
| pl | Przejściowa wrodzona niedoczynność tarczycy | |
| cs | Genetická tranzientní vrozená hypotyreóza | |
| uk | Генетично обумовлений транзиторний вроджений гіпотиреоз | |
| zh | 遗传性短暂性先天性甲状腺功能减退症 | |
| tr | Genetik geçici doğumsal hipotiroidi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607200 | E | validated | |
| ICD-10 | P72.2 | NTBT | attributed | validated |
| ICD-11 | 5A00.03 | NTBT | index | validated |
| MONDO | 0044331 | E | validated | |
| UMLS | C4749351 | 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 (2):
- ORPHA:442Congenital hypothyroidism
rare genetic diseases - ORPHA:238699Transient congenital hypothyroidism due to neonatal factor
rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DUOX2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13273 | ENSG00000140279 | 606759 | 15q21.1 | dual oxidase 2 | 25248169[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
21 annotations · validated 2021-05-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0000853 | Goiter | |
| HP:0025484 | Increased circulating thyroglobulin concentration | |
| HP:0008263 | Thyroid defect in oxidation and organification of iodide | |
| Occasional (29-5%) | ||
| HP:0031221 | Abnormal radioactive iodine uptake test result | |
| HP:0002019 | Constipation | |
| HP:0011968 | Feeding difficulties | |
| HP:0001615 | Hoarse cry | |
| HP:0100786 | Hypersomnia | |
| HP:0001254 | Lethargy | |
| HP:0000158 | Macroglossia | |
| HP:0011437 | Maternal autoimmune disease | |
| HP:0001070 | Mottled pigmentation | |
| HP:0031169 | Postterm pregnancy | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0001537 | Umbilical hernia | |
| Very rare (<4-1%) | ||
| HP:0000969 | Edema | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0005990 | Thyroid hypoplasia | |
Annotation source: 20537182[PMID]_31172499[PMID]_21543982[PMID]_33490161[PMID]_28504502[PMID]_32565793[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/226316
- This record as JSON: /data/d/226316.json