PedAM

Pediatric Disease Annotations & Medicines


	thyroid hormone resistance

Disease ID	1063
Disease	thyroid hormone resistance
Definition	An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.
Synonym	congenital unresponsiveness to thyrotropin end-organ unresponsiveness to thyroid hormone general resistance to thyrotropin generalised thyroid hormone resistance generalized thyroid hormone resistance generalized thyroid hormone resistance (disorder) hormone resistance thyroid hormone resistance, thyroid hormone resistances thyroid hypothyroidism due to thyroid insensitivity to tsh refetoff dewind degroot syndrome refetoff syndrome refetoff syndrome (disorder) refetoff-dewind-degroot syndrome resistance to thyroid hormone resistance to thyroid stimulating hormone resistance, thyroid hormone syndrome, refetoff syndrome, refetoff-dewind-degroot thyroid hormone receptor defect thyroid hormone resistance syndrome thyroid hormone resistance syndrome (disorder) thyroid hormone resistance syndrome [disease/finding] thyroid hormone resistance, generalized thyroid hormone responsiveness defect thyroid hormone responsiveness defect (disorder) tsh resistance unresponsiveness of thyroid gland to thyrotropin
OMIM	OMIM:274300 OMIM:275200
DOID	DOID:11633
UMLS	C2940786
MeSH	D018382
SNOMED-CT	SNOMEDCT_US_2016_09_01:50375007;SNOMEDCT_US_2016_09_01:237560005;SNOMEDCT_US_2016_09_01:237559000;SNOMEDCT_US_2016_09_01:111567006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0085681 \| hyperphosphatemia \| 1 C0549473 \| thyroid carcinoma \| 1 C0745140 \| hyperthyroid \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0007115 \| thyroid ca \| 1 C0206754 \| neuroendocrine tumor \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) THRB \| 7068 \| CTD_human TRHR \| 7201 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7068 \| THRB \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 7038 \| TG \| DISEASES 6908 \| TBP \| DISEASES 2690 \| GHR \| DISEASES 7276 \| TTR \| DISEASES 92595 \| ZNF764 \| DISEASES 7252 \| TSHB \| DISEASES 1387 \| CREBBP \| DISEASES 8452 \| CUL3 \| DISEASES 7067 \| THRA \| DISEASES 5443 \| POMC \| DISEASES 9611 \| NCOR1 \| DISEASES 6567 \| SLC16A2 \| DISEASES 7069 \| THRSP \| DISEASES 6750 \| SST \| DISEASES 3479 \| IGF1 \| DISEASES 7200 \| TRH \| DISEASES 7201 \| TRHR \| DISEASES 5626 \| PROP1 \| DISEASES 2688 \| GH1 \| DISEASES 55349 \| CHDH \| DISEASES 6906 \| SERPINA7 \| DISEASES 7068 \| THRB \| DISEASES 2652 \| OPN1MW \| DISEASES 5956 \| OPN1LW \| DISEASES 2304 \| FOXE1 \| DISEASES 6462 \| SHBG \| DISEASES 6473 \| SHOX \| DISEASES 51347 \| TAOK3 \| DISEASES 10587 \| TXNRD2 \| DISEASES 9612 \| NCOR2 \| DISEASES 1385 \| CREB1 \| DISEASES 7849 \| PAX8 \| DISEASES 3483 \| IGFALS \| DISEASES 6256 \| RXRA \| DISEASES
Locus	(Waiting for update.)

Disease ID	1063
Disease	thyroid hormone resistance
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002905 \| Hyperphosphatemia \| 1 HP:0002890 \| Thyroid carcinoma \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0030731 \| Carcinoma \| 1 HP:0002901 \| Hypocalcemia \| 1

Disease ID	1063
Disease	thyroid hormone resistance
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C2940786	atenolol	D001262	29122-68-7	thyroid hormone resistance syndrome	MESH:D018382	therapeutic	9349583

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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