Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated genes and diseases:
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: FOXE1
disease_id: OMIM:241850
disease_name: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
gene_symbol: MRPS7
disease_id: OMIM:617872
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOX2
disease_id: ORPHA:226316
disease_name: Genetic transient congenital hypothyroidism
gene_symbol: THRB
disease_id: OMIM:145650
disease_name: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
gene_symbol: THRB
disease_id: OMIM:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: NKX2-1
disease_id: ORPHA:209905
disease_name: Brain-lung-thyroid syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
gene_symbol: PAX8
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: NKX2-5
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: TRHR
disease_id: ORPHA:99832
disease_name: Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: DCAF17
disease_id: OMIM:241080
disease_name: WOODHOUSE-SAKATI SYNDROME
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: SECISBP2
disease_id: ORPHA:171706
disease_name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
gene_symbol: SECISBP2
disease_id: OMIM:609698
disease_name: THYROID HORMONE METABOLISM, ABNORMAL
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: TSHR
disease_id: OMIM:275200
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: SLC25A36
disease_id: OMIM:620211
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8