Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | |
| fr | Petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne | |
| de | Kleinwuchs - retardiertes Knochenalter, durch stoffwechselbedingten Schilddrüsenhormonmangel | |
| es | Talla baja-retraso en la edad ósea por deficiencia en el metabolismo de hormonas tiroideas | |
| it | Bassa statura - età ossea ritardata da deficit nel metabolismo degli ormoni tiroidei | |
| nl | Kleine gestalte - vertraagde botleeftijd door deficiëntie in schildklierhormoonmetabolisme | |
| pt | Baixa estatura-atraso da idade óssea por deficiência no metabolismo da hormona da tiroide | |
| pl | Niski wzrost-opóźniony wiek kostny z powodu niedoboru metabolizmu hormonów tarczycy | |
| cs | Malý vzrůst a opožděný kostní věk, způsobené deficitem metabolismu thyreoidálních hormonů | |
| uk | Низькорослість з затримкою кісткового віку внаслідок дефіциту метаболізму гормонів щитоподібної залози | |
| zh | 甲状腺激素代谢缺乏所致身材矮小和骨龄延迟 | |
| tr | Tiroid hormonu metabolizması eksikliğine bağlı kısa boy-gecikmiş kemik yaşı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609698 | BTNT | validated | |
| OMIM | 619855 | BTNT | validated | |
| OMIM | 620198 | BTNT | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.0Y | NTBT | attributed | validated |
| UMLS | C4706661 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:596426Syndrome of reduced sensitivity to thyroid hormone
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SECISBP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30972 | ENSG00000187742 | 607693 | 9q22.2 | SECIS binding protein 2 | 16228000[PMID]_19602558[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2021-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0032210 | Decreased circulating free T3 | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0031506 | Increased circulating thyroxine level | |
| Occasional (29-5%) | ||
| HP:0040214 | Abnormal circulating insulin concentration | |
| HP:0031903 | Abnormal circulating selenium concentration | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0003391 | Gowers sign | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001513 | Obesity | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0000508 | Ptosis | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29882503[PMID]_16228000[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171706
- This record as JSON: /data/d/171706.json