Thyroid hormones production and peripheral downstream signaling effects (WP4746)
Congenital hypothyroidism is a genetic hormonal disorder regarding the thyroid hormone. Due dyshormonogenesis, the production of the thyroid hormones is impaired resulting in increased birth weight, reduced LDL breakdown, decreased lipolysis, impaired glucose metabolism and decreased body temperature. Above, an overview of thyroid hormones production occurring in thyroid gland and their relevant downstream signalling is displayed. As the legend states, genes known te be affected by mutations leading to congenital hypothyroidism are colored red.
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Authors

Rik Lahaije , Friederike Ehrhart , Lauren J. Dupuis , Marvin Martens , Egon Willighagen , and Eric Weitz

Cited In

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Organism

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology: congenital hypothyroidism

Pathway Ontology: thyroid-stimulating hormone signaling pathway disease pathway

Participants

Label Type Compact Identifier
iodide Metabolite chebi:16382
T3 Metabolite chebi:18258
MIT Metabolite chebi:25400
T4 Metabolite chebi:75602
DAG Metabolite chebi:18035
T3 Metabolite chebi:18258
Norepinephrine Metabolite chebi:33569
T4 Metabolite chebi:75602
T3 Metabolite chebi:18258
TBG bound T4 Metabolite chebi:75602
T4 Metabolite chebi:75602
T3 Metabolite chebi:18258
NADP+ Metabolite chebi:18009
TG Metabolite chebi:17855
cAMP Metabolite chebi:17489
H+ Metabolite chebi:15378
IP3 Metabolite chebi:16595
FFA Metabolite chebi:35366
tRNAsec Metabolite chebi:29264
T3 Metabolite chebi:18258
Na+ Metabolite chebi:29101
PIP3 Metabolite chebi:16618
H2O2 Metabolite chebi:16240
NADPH Metabolite chebi:16474
cGMP Metabolite chebi:16356
iodide Metabolite chebi:16382
Albumin bound T4 Metabolite chebi:75602
TTR bound T4 Metabolite chebi:75602
Glycerol Metabolite chebi:17754
oxygen Metabolite chebi:25805
Hypothalamic AMPK Metabolite chebi:85053
Ca2+ Metabolite chebi:22984
iodide Metabolite chebi:16382
TBG bound T3 Metabolite chebi:18258
Albumin bound T3 Metabolite chebi:18258
TTR bound T3 Metabolite chebi:18258
cAMP Metabolite chebi:17489
DG Metabolite chebi:18035
MG Metabolite chebi:17408
T4 Metabolite chebi:75602
T3 Metabolite chebi:18258
T3 Metabolite chebi:18258
T2 Metabolite chebi:89575
T3 Metabolite chebi:18258
T3 Metabolite chebi:18258
DAG Metabolite chebi:18035
IP3 Metabolite chebi:16595
Ca2+ Metabolite chebi:22984
cAMP Metabolite chebi:17489
T3 Metabolite chebi:18258
T4 Metabolite chebi:75602
T4 Metabolite chebi:75602
T3 Metabolite chebi:18258
Na+ Metabolite chebi:29101
T3 Metabolite chebi:18258
iodide Metabolite chebi:16382
DIT Metabolite chebi:23796
T3 Metabolite chebi:18258
T3 Metabolite chebi:18258
H+ Metabolite chebi:15378
T3 Metabolite chebi:18258
Norepinephrine Metabolite chebi:33569
POMC GeneProduct ensembl:ENSG00000115138
AS160 GeneProduct ensembl:ENSG00000136111
SLC26A4 GeneProduct ensembl:ENSG00000091137
PRDM16 GeneProduct ensembl:ENSG00000142611
ATF2 GeneProduct ensembl:ENSG00000115966
NOTCH GeneProduct ensembl:ENSG00000148400
DIO1 GeneProduct ensembl:ENSG00000211452
FGF21 GeneProduct ensembl:ENSG00000105550
ZNF516 GeneProduct ensembl:ENSG00000101493
GRB2 GeneProduct ensembl:ENSG00000177885
TSC2 GeneProduct ensembl:ENSG00000103197
RPS6KB1 GeneProduct ensembl:ENSG00000108443
ITGB GeneProduct ensembl:ENSG00000259207
CREB GeneProduct ensembl:ENSG00000107175
RHEB GeneProduct ensembl:ENSG00000106615
MDM2 GeneProduct ensembl:ENSG00000135679
MAFA GeneProduct ensembl:ENSG00000182759
RHEB GeneProduct ensembl:ENSG00000106615
FOXO1 GeneProduct ensembl:ENSG00000150907
GSK3B GeneProduct ensembl:ENSG00000082701
S6 GeneProduct ensembl:ENSG00000137154
SHH GeneProduct ensembl:ENSG00000164690
PPARG GeneProduct ensembl:ENSG00000132170
SLCO1C1 GeneProduct ensembl:ENSG00000139155
B-Catenin GeneProduct ensembl:ENSG00000168036
TSHR GeneProduct ensembl:ENSG00000165409
UCP1 GeneProduct ensembl:ENSG00000109424
NHSL GeneProduct ensembl:ENSG00000135540
BAD GeneProduct ensembl:ENSG00000002330
TTF1 GeneProduct ensembl:ENSG00000125482
SECISBP2L GeneProduct ensembl:ENSG00000138593
Wnt GeneProduct ensembl:ENSG00000162552
RAS GeneProduct ensembl:ENSG00000174775
FRS2 GeneProduct ensembl:ENSG00000166225
AKT GeneProduct ensembl:ENSG00000117020
AGRP GeneProduct ensembl:ENSG00000159723
RAF1 GeneProduct ensembl:ENSG00000132155
PLIN GeneProduct ensembl:ENSG00000166819
AQP7 GeneProduct ensembl:ENSG00000165269
TSC1 GeneProduct ensembl:ENSG00000165699
MGLL GeneProduct ensembl:ENSG00000074416
ITGA GeneProduct ensembl:ENSG00000138448
SLC16A10 GeneProduct ensembl:ENSG00000112394
IP3R GeneProduct ensembl:ENSG00000123104
DUOXA2 GeneProduct ensembl:ENSG00000140274
RAPTOR GeneProduct ensembl:ENSG00000141564
SIRT6 GeneProduct ensembl:ENSG00000077463
SRC GeneProduct ensembl:ENSG00000197122
Ras GeneProduct ensembl:ENSG00000174775
MLST8 GeneProduct ensembl:ENSG00000167965
SLC5A5 GeneProduct ensembl:ENSG00000105641
TSC2 GeneProduct ensembl:ENSG00000103197
FGFR1 GeneProduct ensembl:ENSG00000077782
TSH GeneProduct ensembl:ENSG00000134200
KDM1A GeneProduct ensembl:ENSG00000004487
PFKFB2 GeneProduct ensembl:ENSG00000123836
IYD GeneProduct ensembl:ENSG00000009765
PRAS40 GeneProduct ensembl:ENSG00000204673
DUOX2 GeneProduct ensembl:ENSG00000140279
KLB GeneProduct ensembl:ENSG00000134962
RXR GeneProduct ensembl:ENSG00000186350
MC4R GeneProduct ensembl:ENSG00000166603
CASP9 GeneProduct ensembl:ENSG00000132906
CREB GeneProduct ensembl:ENSG00000107175
mTOR GeneProduct ensembl:ENSG00000198793
PCG-1 GeneProduct ensembl:ENSG00000109819
TTF2 GeneProduct ensembl:ENSG00000116830
TRH GeneProduct ensembl:ENSG00000170893
ACTL6B GeneProduct ensembl:ENSG00000077080
PI3K GeneProduct ensembl:ENSG00000121879
P53 GeneProduct ensembl:ENSG00000141510
THRB1 GeneProduct ensembl:ENSG00000151090
mTOR GeneProduct ensembl:ENSG00000198793
SOS GeneProduct ensembl:ENSG00000115904
RPS6KA6 GeneProduct ensembl:ENSG00000072133
NPY GeneProduct ensembl:ENSG00000122585
FGF21 GeneProduct ensembl:ENSG00000105550
UCP1 GeneProduct ensembl:ENSG00000109424
DIO2 GeneProduct ensembl:ENSG00000211448
DIO2 GeneProduct ensembl:ENSG00000211448
SHH GeneProduct ensembl:ENSG00000164690
DIO3 GeneProduct ensembl:ENSG00000197406
SLC16A10 GeneProduct ensembl:ENSG00000112394
ITGB GeneProduct ensembl:ENSG00000259207
ITGA GeneProduct ensembl:ENSG00000138448
THRA1 GeneProduct ensembl:ENSG00000126351
IP3R GeneProduct ensembl:ENSG00000123104
RXR GeneProduct ensembl:ENSG00000186350
DIO2 GeneProduct ensembl:ENSG00000211448
RXR GeneProduct ensembl:ENSG00000186350
THRB1 GeneProduct ensembl:ENSG00000151090
RXR GeneProduct ensembl:ENSG00000186350
PKG Protein uniprot:A0A140VJM3
PAX8 Protein uniprot:A0A140TA56
MCT8 Protein uniprot:P36021
Adenylate cyclase Protein uniprot:A0A0A0MSC1
MKK3 Protein uniprot:A0A024R2W7
BNP Protein uniprot:P16860
NP-R Protein uniprot:P16066
THR Protein uniprot:P10827
ASK1 Protein uniprot:G3V4Q4
PKC Protein uniprot:A0A087X0I9
MEK Protein uniprot:Q02750
ERK Protein uniprot:P28482
ANP Protein uniprot:A0A087X094
TG Protein uniprot:E5RG33
JMJD1B Protein uniprot:Q7LBC6
p38 Protein uniprot:Q16539
TPO Protein uniprot:E9PFM6
ATGL Protein uniprot:Q96AD5
PKA Protein uniprot:Q15136
AC Protein uniprot:A0A0K0K1K3
Beta-3 AR Protein uniprot:P13945
PLC Protein uniprot:A0A087WT80
MCT8 Protein uniprot:P36021
PKA Protein uniprot:Q15136
MCT8 Protein uniprot:P36021
MCT8 Protein uniprot:P36021
MCT8 Protein uniprot:P36021
MCT8 Protein uniprot:P36021
PKC Protein uniprot:A0A087X0I9
PLC Protein uniprot:A0A087WT80
PKA Protein uniprot:Q15136
THR Protein uniprot:P10827
MCT8 Protein uniprot:P36021
MCT8 Protein uniprot:P36021
THR Protein uniprot:P10827
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