athyreosis
Findings
No curated finding names athyreosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Definition from the Mondo Disease Ontology (MONDO:0019855), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abnormal circulating thyroglobulin concentrationHPOHP:0025483
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Thyroid agenesisHPOHP:0008191
- Very frequent (80% to 99% of cases)
- ColdnessHPOHP:0033850
- Frequent (30% to 79% of cases)
- Facial edemaHPOHP:0000282
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
Genes
4 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.