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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   thyroid hormone resistance syndrome
  

Disease ID 1780
Disease thyroid hormone resistance syndrome
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
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
Orphanet
OMIM
DOID
UMLS
C2940786
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:12)
C0018213  |  graves' disease  |  3
C0007115  |  thyroid ca  |  3
C0020676  |  hypothyroidism  |  3
C0007115  |  thyroid cancer  |  2
C0677607  |  hashimoto's thyroiditis  |  1
C0242520  |  chronic thyroiditis  |  1
C0206754  |  neuroendocrine tumor  |  1
C0020550  |  hyperthyroidism  |  1
C0549473  |  thyroid carcinoma  |  1
C0745140  |  hyperthyroid  |  1
C0238463  |  papillary thyroid carcinoma  |  1
C0085681  |  hyperphosphatemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
7068  |  THRB  |  CTD_human
7201  |  TRHR  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
7068  |  THRB  |  CIPHER;CTD_human
7201  |  TRHR  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:14)
1385  |  CREB1  |  1.302  |  DISEASES
2304  |  FOXE1  |  1.598  |  DISEASES
3483  |  IGFALS  |  2.74  |  DISEASES
9612  |  NCOR2  |  2.859  |  DISEASES
5956  |  OPN1LW  |  2.795  |  DISEASES
2652  |  OPN1MW  |  3.259  |  DISEASES
7849  |  PAX8  |  1.064  |  DISEASES
6256  |  RXRA  |  1.689  |  DISEASES
6906  |  SERPINA7  |  2.861  |  DISEASES
6462  |  SHBG  |  3.463  |  DISEASES
6473  |  SHOX  |  1.608  |  DISEASES
51347  |  TAOK3  |  2.138  |  DISEASES
7068  |  THRB  |  7.676  |  DISEASES
10587  |  TXNRD2  |  6.116  |  DISEASES
Locus(Waiting for update.)
Disease ID 1780
Disease thyroid hormone resistance syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:9)
HP:0000821  |  Underactive thyroid  |  3
HP:0030731  |  Carcinoma  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0002895  |  Papillary thyroid carcinoma  |  1
HP:0002905  |  Hyperphosphatemia  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0002890  |  Thyroid carcinoma  |  1
HP:0002901  |  Hypocalcemia  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
Disease ID 1780
Disease thyroid hormone resistance syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0020676  |  hypothyroidism  |  2
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1780
Disease thyroid hormone resistance syndrome
Case(Waiting for update.)