ORPHA:95716
Familial thyroid dyshormonogenesis
Synonyms: Thyroid dyshormonogenesis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial thyroid dyshormonogenesis | Thyroid dyshormonogenesis |
| fr | Hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne | Dyshormonosynthèse thyroïdienne |
| de | Schilddrüsen-Dyshormonogenese, familiäre | |
| es | Dishormonogénesis tiroidea familiar | |
| it | Disormonogenesi tiroidea familiare | Disormonogenesi tiroidea |
| nl | Familiale dyshormonogenese van schildklier | Dyshormonogenese van schildklier · Familiale dyshormonogenese van thyroïd |
| pt | Dishormonogenese da tiroide familiar | Dishormonogenese da tiroide |
| pl | Rodzinna dyshormonogeneza tarczycy | Rodzinna dyshormonogeneza tarczycy |
| cs | Familiární tyreoidální dyshormonogeneze | Tyreoidální dyshormonogeneze |
| uk | Сімейний дисгормоногенез щитоподібної залози | Тиреоїдний дисгормоногенез |
| zh | 家族性甲状腺激素合成障碍 | 甲状腺激素合成障碍 |
| tr | ailesel tiroid disormonogenezi | Tiroid dishormonojenezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274400 | E | validated | |
| OMIM | 274500 | BTNT | validated | |
| OMIM | 274700 | BTNT | validated | |
| OMIM | 274800 | BTNT | validated | |
| OMIM | 274900 | BTNT | validated | |
| OMIM | 607200 | BTNT | validated | |
| ICD-10 | E03.0 | NTBT | attributed | validated |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.00 | NTBT | index | validated |
| MONDO | 0010132 | E | validated | |
| UMLS | C4273748 | 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:95714Primary congenital hypothyroidism without thyroid developmental anomaly
rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DUOX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13273 | ENSG00000140279 | 606759 | 15q21.1 | dual oxidase 2 | 20537182[PMID]_21543982[PMID] |
| DUOXA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:32698 | ENSG00000140274 | 612772 | 15q21.1 | dual oxidase maturation factor 2 | 20537182[PMID]_21543982[PMID] |
| IYD | Disease-causing germline mutation(s) in | Assessed | HGNC:21071 | ENSG00000009765 | 612025 | 6q25.1 | iodotyrosine deiodinase | 20537182[PMID]_21543982[PMID] |
| SLC5A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11040 | ENSG00000105641 | 601843 | 19p13.11 | solute carrier family 5 member 5 | 20537182[PMID]_21543982[PMID] |
| TG | Disease-causing germline mutation(s) in | Assessed | HGNC:11764 | ENSG00000042832 | 188450 | 8q24.22 | thyroglobulin | 20537182[PMID]_21543982[PMID] |
| TPO | Disease-causing germline mutation(s) in | Assessed | HGNC:12015 | ENSG00000115705 | 606765 | 2p25.3 | thyroid peroxidase | 20537182[PMID]_21543982[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.67 / 100 000 | Worldwide | Value and class | Validated | [EXPERT]_emedicine[OTHER] |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 4 / 100 000 | Finland | Value and class | Validated | 2919526[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.
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HPO phenotypes
30 annotations · validated 2021-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0002019 | Constipation | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000853 | Goiter | |
| HP:0004491 | Large posterior fontanelle | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0008263 | Thyroid defect in oxidation and organification of iodide | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0025483 | Abnormal circulating thyroglobulin concentration | |
| HP:0001662 | Bradycardia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000282 | Facial edema | |
| HP:0001265 | Hyporeflexia | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0031220 | Increased radioactive iodine uptake | |
| HP:0001249 | Intellectual disability | |
| HP:0001254 | Lethargy | |
| HP:0000158 | Macroglossia | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0025482 | Positive perchlorate discharge test | |
| HP:0031219 | Reduced radioactive iodine uptake | |
| Very rare (<4-1%) | ||
| HP:0000407 | Sensorineural hearing impairment | |
| Excluded (0%) | ||
| HP:0011437 | Maternal autoimmune disease | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20537182[PMID]_28476227[PMID]_33310921[PMID]_30324792[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95716
- This record as JSON: /data/d/95716.json