ORPHA:90674
Isolated thyroid-stimulating hormone deficiency
Synonyms: Isolated TSH deficiency · Isolated thyrotropin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated thyroid-stimulating hormone deficiency | Isolated TSH deficiency · Isolated thyrotropin deficiency |
| fr | Déficit isolé en TSH | Déficit isolé en thyrotropine · Déficit isolé en thyréostimuline |
| de | Thyreoideastimulierendes Hormon-Mangel, isolierter | TSH-Mangel, isolierter · Thyreotropinmangel, isolierter |
| es | Deficiencia aislada de la hormona estimulante de la tiroides | Deficiencia aislada de TSH · Deficiencia aislada de tirotropina |
| it | Deficit isolato dell'ormone stimolante la tiroide | |
| nl | Geïsoleerde deficiëntie van thyroïdstimulerend hormoon | Geïsoleerde TSH-deficiëntie · Geïsoleerde deficiëntie van thyrotropine |
| pt | Deficiência de hormona estimulante da tiroide isolada | |
| pl | Izolowany Niedobór hormonów stymulujących tarczycę | Izolowany Niedobór TSH |
| cs | Izolovaný deficit tyroid-stimulujícího hormonu | Izolovaný deficit TSH |
| uk | Ізольований дефіцит тиреотропного гормону | Ізольований дефіцит тиреотропіну · Ізольований дефіцит ТТГ |
| zh | 孤立型促甲状腺激素缺乏 | 孤立型促甲状腺激素缺乏 |
| tr | İzole tiroid uyarıcı hormon eksikliği | İzole TSH eksikliği · İzole tirotropin eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275100 | E | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.01 | NTBT | index | validated |
| MONDO | 0010139 | E | validated | |
| MeSH | C000610012 | E | validated | |
| UMLS | C4082174 | E | validated | |
| GARD | 10129 | 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 (2):
- ORPHA:226298Central congenital hypothyroidism
rare genetic diseases; rare endocrine diseases - ORPHA:95488Non-acquired pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSHB | Disease-causing germline mutation(s) in | Assessed | HGNC:12372 | ENSG00000134200 | 188540 | 1p13.2 | thyroid stimulating hormone subunit beta | 12930599[PMID]_20537182[PMID]_22851492[PMID] |
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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.
6
HPO phenotypes
42 annotations · validated 2021-06-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025483 | Abnormal circulating thyroglobulin concentration | |
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0031098 | Decreased thyroid-stimulating hormone level | |
| HP:0031208 | Increased pituitary glycoprotein hormone alpha subunit level | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0031219 | Reduced radioactive iodine uptake | |
| HP:0005990 | Thyroid hypoplasia | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002019 | Constipation | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000958 | Dry skin | |
| HP:0000282 | Facial edema | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001510 | Growth delay | |
| HP:0001615 | Hoarse cry | |
| HP:0001609 | Hoarse voice | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002045 | Hypothermia | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0004491 | Large posterior fontanelle | |
| HP:0002690 | Large sella turcica | |
| HP:0000158 | Macroglossia | |
| HP:0000053 | Macroorchidism | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001662 | Bradycardia | |
| HP:0002312 | Clumsiness | |
| HP:0001252 | Hypotonia | |
| HP:0001254 | Lethargy | |
| Very rare (<4-1%) | ||
| HP:0000716 | Depression | |
| HP:0000853 | Goiter | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0011437 | Maternal autoimmune disease | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20537182[PMID]_28549061[PMID]_26416826[PMID]_30374425[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90674
- This record as JSON: /data/d/90674.json