raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:90673

Hypothyroidism due to TSH receptor mutations

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
Infancy, Neonatal
Status
active

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHypothyroidism due to TSH receptor mutations
frHypothyroïdie par mutation du récepteur de la TSH
deHypothyreose durch TSH-Rezeptor-Genmutationen
esHipotiroidismo por mutaciones en el receptor de la TSH
itIpotiroidismo da mutazioni del recettore di TSH
nlHypothyreoïdie door mutaties in TSH-receptor
ptHipotiroidismo por mutações no recetor da TSH
plNiedoczynność tarczycy spowodowana mutacjami receptora TSH
csHypotyreóza způsobená mutací TSH receptoru
ukГіпотиреоз внаслідок мутацій рецепторів ТТГ
zhTSH受体突变所致甲状腺功能减退
trTSH reseptör mutasyonlarına bağlı hipotiroidi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM275200Evalidated
ICD-10E03.1NTBTattributedvalidated
ICD-115A00.01NTBTindexvalidated
MONDO0010142Evalidated
MeSHC576976Evalidated
UMLSC3493776Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
TSHRDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:12373ENSG0000016540960337214q24-q31thyroid stimulating hormone receptor19158199[PMID]_20537182[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

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

28 annotations · validated 2021-06-04
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0011789Impaired sensitivity to thyroid stimulating hormone
Very frequent (99-80%)
HP:0000851Congenital hypothyroidism
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
Frequent (79-30%)
HP:0031507Decreased circulating thyroxine level
HP:0025484Increased circulating thyroglobulin concentration
HP:0006579Prolonged neonatal jaundice
HP:0031219Reduced radioactive iodine uptake
Occasional (29-5%)
HP:0025429Abnormal cry
HP:0005930Abnormality of epiphysis morphology
HP:0001662Bradycardia
HP:0008223Compensated hypothyroidism
HP:0002019Constipation
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008872Feeding difficulties in infancy
HP:0001265Hyporeflexia
HP:0031220Increased radioactive iodine uptake
HP:0004491Large posterior fontanelle
HP:0001254Lethargy
HP:0000158Macroglossia
HP:0003265Neonatal hyperbilirubinemia
HP:0005990Thyroid hypoplasia
HP:0001537Umbilical hernia
Very rare (<4-1%)
HP:0000969Edema
HP:0002045Hypothermia
HP:0001252Hypotonia
Excluded (0%)
HP:0030057Autoimmune antibody positivity
HP:0000853Goiter
HP:0011437Maternal autoimmune disease

Run the differential on the 3 obligate / very frequent terms

Annotation source: 28648507[PMID]_20537182[PMID]_25797365[PMID]_21513912[PMID]

7

Sources for this card