familial thyroid dyshormonogenesis
Findings
No curated finding names familial thyroid dyshormonogenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010132), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating T4 concentrationHPOHP:0031507
- Very frequent (80% to 99% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- Congenital hypothyroidismHPOHP:0000851
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Frequent (30% to 79% of cases)
- Delayed proximal femoral epiphyseal ossificationHPOHP:0008828
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- GoiterHPOHP:0000853
- Frequent (30% to 79% of cases)
- Large posterior fontanelleHPOHP:0004491
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Frequent (30% to 79% of cases)
Show the remaining 17
- Thyroid defect in oxidation and organification of iodideHPOHP:0008263
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
- Abnormal circulating thyroglobulin concentrationHPOHP:0025483
- Occasional (5% to 29% of cases)
- BradycardiaHPOHP:0001662
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Facial edemaHPOHP:0000282
- Occasional (5% to 29% of cases)
Genes
6 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DUOX2HGNC:13273
- Supportive · Orphanet · Autosomal recessive · 2021
- DUOXA2HGNC:32698
- Supportive · Orphanet · Autosomal recessive · 2021
- IYDHGNC:21071
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC5A5HGNC:11040
- Supportive · Orphanet · Autosomal recessive · 2021
- TGHGNC:11764
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: familial thyroid dyshormonogenesis
- Also called
- nongoitrous hyperthyrotropinemiathyroid dyshormonogenesis