ORPHA:95713
Athyreosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Athyreosis | |
| fr | Athyréose | |
| de | Athyreose | |
| es | Atireosis | |
| it | Atireosi | |
| nl | Athyreose | |
| pt | Atireose | |
| pl | Atyreoza | |
| cs | Atyreóza | |
| uk | Атиреоз | |
| zh | 无甲状腺症 | |
| tr | Atireozis |
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 | 0019855 | E | validated | |
| UMLS | C4305275 | 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 (1):
- ORPHA:95711Congenital hypothyroidism due to developmental anomaly
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXE1 | Candidate gene tested in | Not yet assessed | HGNC:3806 | ENSG00000178919 | 602617 | 9q22.33 | forkhead box E1 | 28455095[PMID] |
| NKX2-1 | Candidate gene tested in | Not yet assessed | HGNC:11825 | ENSG00000136352 | 600635 | 14q13.3 | NK2 homeobox 1 | 28455095[PMID] |
| PAX8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8622 | ENSG00000125618 | 167415 | 2q14.1 | paired box 8 | 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 | 14725684[PMID] |
| NKX2-5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 16418214[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 | Europe | 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
25 annotations · validated 2024-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0025483 | Abnormal circulating thyroglobulin concentration | |
| HP:0000271 | Abnormality of the face | |
| HP:0000280 | Coarse facial features | |
| HP:0002019 | Constipation | |
| HP:0012378 | Fatigue | |
| HP:0011968 | Feeding difficulties | |
| HP:0100786 | Hypersomnia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0000239 | Large fontanelles | |
| HP:0000158 | Macroglossia | |
| HP:0001324 | Muscle weakness | |
| HP:0008191 | Thyroid agenesis | |
| Frequent (79-30%) | ||
| HP:0033850 | Coldness | |
| HP:0000282 | Facial edema | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001615 | Hoarse cry | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001254 | Lethargy | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0004322 | Short stature | |
| HP:0001537 | Umbilical hernia | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25905261[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95713
- This record as JSON: /data/d/95713.json