MCID: CNG006
MIFTS: 57

Congenital Hypothyroidism malady

Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases categories

Aliases & Classifications for Congenital Hypothyroidism

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Aliases & Descriptions for Congenital Hypothyroidism:

Name: Congenital Hypothyroidism 10 45 22 23 47 12 24 65 36
Cretinism 10 23
Congenital Myxedema 23
 
Endemic Cretinism 65
Cht 23
Ch 23


Classifications:



Summaries for Congenital Hypothyroidism

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NIH Rare Diseases:45 Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). the thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. if untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. in the united states and many other countries, all newborns are tested for congenital hypothyroidism. if treatment begins in the first month after birth, infants usually develop normally. most cases of congenital hypothyroidism occur in people with no history of the disorder in their family; however, this condition can also be inherited. last updated: 10/19/2011

MalaCards based summary: Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia and autoimmune thyroiditis, and has symptoms including abnormality of the tongue, abnormality of the fontanelles or cranial sutures and hypothyroidism. An important gene associated with Congenital Hypothyroidism is NKX2-1 (NK2 Homeobox 1), and among its related pathways are Hormone ligand-binding receptors and Thyroxine (Thyroid Hormone) Production. Affiliated tissues include thyroid, brain and testes, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Disease Ontology:10 A hypothyroidism that is present at birth.

Genetics Home Reference:23 Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.

Related Diseases for Congenital Hypothyroidism

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Diseases in the Hypothyroidism family:

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia congenital hypothyroidism
Central Congenital Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duoxa2-Related Congenital Hypothyroidism, Duox2-Related
Congenital Hypothyroidism, Iyd-Related Congenital Hypothyroidism, Tpo-Related
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs
Hypothyroidism Due to Tsh Receptor Mutations Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Diseases related to Congenital Hypothyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 329)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia30.5FOXE1, NKX2-1, PAX8, TG, TSHR
2autoimmune thyroiditis30.3TG, TPO
3hypertrichosis30.3TG, TPO, TSHR
4pendred syndrome30.1DUOX2, PAX8, TG, TPO
5thyroid gland disease30.1NKX2-1, PAX8, SLC5A5, TG, TPO, TSHR
6thyroid ectopia30.0DUOX2, IYD, SLC5A5, TG, TPO
7hypothryoidism, congenital, nongoitrous 429.8POU1F1, TG, TPO, TSHB
8hypothyroidism11.4
9thyroiditis11.0
10endemic goiter10.6
11central congenital hypothyroidism10.5
12diabetes mellitus, neonatal, with congenital hypothyroidism10.5
13phenylketonuria10.5
14goiter10.4
15dwarfism10.4
16chediak-higashi syndrome10.4
17choreoathetosis, hypothyroidism, and neonatal respiratory distress10.3
18secondary syphilis10.3
19bone development disease10.3
20neonatal hypothyroidism10.3
21x-linked central congenital hypothyroidism with late-onset testicular enlargement10.3
22congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies10.3
23athyreosis10.3
24cretinism athyreotic10.3
25thyroid dyshormonogenesis 110.3
26iodine hypothyroidism10.3
27congenital adrenal hyperplasia10.3
28pseudohypoparathyroidism10.3
29congenital hypothyroidism, duox2-related10.3
30congenital hypothyroidism, iyd-related10.3
31congenital hypothyroidism, tpo-related10.3
32idiopathic congenital hypothyroidism10.3
33mixed cryoglobulinemia type iii10.2FOXE1, PAX8
34rhabdomyosarcoma, embryonal, 210.2TG, TPO
35arteriosclerosis10.2
36artery disease10.2
37prion disease10.2
38mast cell neoplasm10.2NKX2-1, TG
39myxedema10.2
40riedel's fibrosing thyroiditis10.2FOXE1, TG
41lumbosacral plexus lesion10.2TG, TPO
42thyroid dyshormonogenesis 2a10.2
43obesity10.2
44galactosemia10.2
45down syndrome10.2
46infertility10.2
47phace syndrome10.2
48congenital hypothyroidism, duoxa2-related10.2
49genetic transient congenital hypothyroidism10.2
50congenital hypothyroidism due to maternal intake of antithyroid drugs10.2

Graphical network of the top 20 diseases related to Congenital Hypothyroidism:



Diseases related to congenital hypothyroidism

Symptoms for Congenital Hypothyroidism

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HPO human phenotypes related to Congenital Hypothyroidism:

(show all 35)
id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
3 hypothyroidism hallmark (90%) HP:0000821
4 muscular hypotonia hallmark (90%) HP:0001252
5 abnormality of the liver hallmark (90%) HP:0001392
6 umbilical hernia hallmark (90%) HP:0001537
7 constipation hallmark (90%) HP:0002019
8 sleep disturbance hallmark (90%) HP:0002360
9 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
10 sinusitis typical (50%) HP:0000246
11 coarse facial features typical (50%) HP:0000280
12 depressed nasal ridge typical (50%) HP:0000457
13 dry skin typical (50%) HP:0000958
14 thickened skin typical (50%) HP:0001072
15 reduced tendon reflexes typical (50%) HP:0001315
16 abnormality of the voice typical (50%) HP:0001608
17 hypothermia typical (50%) HP:0002045
18 short stature typical (50%) HP:0004322
19 cognitive impairment typical (50%) HP:0100543
20 abnormality of reproductive system physiology occasional (7.5%) HP:0000080
21 oral cleft occasional (7.5%) HP:0000202
22 hearing impairment occasional (7.5%) HP:0000365
23 cataract occasional (7.5%) HP:0000518
24 optic atrophy occasional (7.5%) HP:0000648
25 nephrolithiasis occasional (7.5%) HP:0000787
26 hypertension occasional (7.5%) HP:0000822
27 anterior hypopituitarism occasional (7.5%) HP:0000830
28 goiter occasional (7.5%) HP:0000853
29 abnormality of the pericardium occasional (7.5%) HP:0001697
30 tracheoesophageal fistula occasional (7.5%) HP:0002575
31 hypotension occasional (7.5%) HP:0002615
32 paresthesia occasional (7.5%) HP:0003401
33 intestinal obstruction occasional (7.5%) HP:0005214
34 abnormality of epiphysis morphology occasional (7.5%) HP:0005930
35 arrhythmia occasional (7.5%) HP:0011675

Drugs & Therapeutics for Congenital Hypothyroidism

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Drugs for Congenital Hypothyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FlutamideapprovedPhase 35813311-84-73397
Synonyms:
.alpha.,.alpha.,.alpha.-Trifluoro-2-methyl-4'-nitro-m-propionotoluidide
13311-84-7
1A Brand of Flutamide
2-Methyl-N-(4-nitro-3-[trifluoromethyl]phenyl)propanamide
2-Methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide
2-Methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propionamide
337962-98-8
37209-54-4
4'-Nitro-3'-(trifluoromethyl)isobutyranilide
4'-Nitro-3'-trifluoromethylisobutyramilide
4'-Nitro-3'-trifluoromethylisobutyranilide
4-Nitro-3-(trifluoromethyl)isobutyranilide
AB00052188
AC-10517
AC1L1FUE
AKOS001025465
Alphapharm Brand of Flutamide
Apimid
Apo Flutamide
Apo-Flutamide
ApoFlutamide
Apogepha Brand of Flutamide
Apotex Brand of Flutamide
Azupharma Brand of Flutamide
BPBio1_000087
BRD-K28307902-001-05-0
BRN 2157663
BSPBio_000079
BSPBio_003122
C07653
C11H11F3N2O3
CAS-13311-84-7
CCRIS 7246
CHEBI:5132
CHEMBL806
CID3397
CPD000058187
Cebatrol
Cebatrol, veterinary
Chephasaar Brand of Flutamide
Chimax
Chiron Brand of Flutamide
Ciclum Brand of Flutamide
Cytamid
D005485
D00586
DB00499
DivK1c_000459
Drogenil
EINECS 236-341-9
ETHINYL ESTRADIOL)
EU-0100557
Essex Brand of Flutamide
Euflex
Eulexin
Eulexin (TN)
Eulexin, Flutamin, Drogenil,Flutamide
Eulexine
F 9397
F0663
F9397_SIGMA
FTA
Fluken
Flulem
Flumid
Fluta 1A Pharma
Fluta GRY
Fluta cell
Fluta-GRY
Fluta-cell
FlutaGRY
Flutacell
Flutamid
Flutamida
Flutamida [INN-Spanish]
Flutamide
Flutamide (JAN/USP/INN)
Flutamide (pubertal study)
Flutamide USP25
Flutamide [USAN:BAN:INN]
Flutamidum
Flutamidum [INN-Latin]
Flutamin
Flutandrona
Flutaplex
Flutexin
Fugerel
Gry Brand of Flutamide
HMS1568D21
HMS1921O16
HMS2090I18
HMS2092O14
HMS501G21
Ham's F-12 medium
 
Hexal Brand of Flutamide
I01-2470
IDI1_000459
Inibsa Brand of Flutamide
Ipsen Brand of Flutamide
Juta Brand of Flutamide
KBio1_000459
KBio2_001690
KBio2_004258
KBio2_006826
KBio3_002342
KBioGR_001377
KBioSS_001690
Kendrick Brand of Flutamide
LS-2105
Lemery Brand of Flutamide
Lopac-F-9397
Lopac0_000557
METHOXYCHLOR
MLS000069634
MLS001065596
MolPort-001-771-894
NCGC00015452-01
NCGC00015452-02
NCGC00015452-04
NCGC00015452-12
NCGC00091460-01
NCGC00091460-02
NCGC00091460-03
NCGC00091460-04
NCGC00091460-05
NCGC00091460-06
NCGC00091460-07
NCGC00091460-08
NCGC00091460-09
NFBA
NINDS_000459
NK-601
NSC 215876
NSC147834
NSC215876
Niftholide
Niftolid
Niftolide
Novo Flutamide
Novo-Flutamide
NovoFlutamide
Novopharm Brand of Flutamide
Odyne
Oncosal
PMS Flutamide
PMS-Flutamide
PUBERTAL FLUTAMIDE STUDY (PUBERTAL STUDIES OF VINCLOZOLIN
Pharmascience Brand of Flutamide
Prasfarma Brand of Flutamide
Prestwick0_000180
Prestwick1_000180
Prestwick2_000180
Prestwick3_000180
Prestwick_228
Prostacur
Prostandril
Prostica
Prostogenat
Q Pharm Brand of Flutamide
Q-Pharm Brand of Flutamide
S1908_Selleck
SAM002264612
SCH13521
SMR000058187
SPBio_000982
SPBio_002000
SPECTRUM1500995
ST058409
Sch 13521
Sch-13521
Schering Brand of Flutamide
Schering Plough Brand of Flutamide
Schering-Plough Brand of Flutamide
Spectrum2_001201
Spectrum3_001421
Spectrum4_000829
Spectrum5_001450
Spectrum_001210
TAD Brand of Flutamide
Tedec Meiji Brand of Flutamide
Testotard
UNII-76W6J0943E
ZINC03812944
alpha,alpha,alpha-Trifluoro-2-methyl-4'-nitro-m-propionotoluidide
cell pharm Brand of Flutamide
esparma Brand of Flutamide
flutamide
m-Propionotoluidide, alpha,alpha,alpha-trifluoro-2-methyl-4'-nitro- (8CI)
m-propionotoluidide,alpha,alpha,alpha-trifluoro-2-methyl-4'-nitro
niftolid
2Triptorelin PamoatePhase 3110
3
PaclitaxelapprovedPhase 2250533069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
4
PrednisoloneapprovedPhase 2103350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
5
CarboplatinapprovedPhase 2181241575-94-410339178, 498142, 38904, 38904, 498142
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
6
MethylprednisoloneapprovedPhase 2103383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
7Prednisolone phosphatePhase 21033
8Methylprednisolone acetatePhase 21033
9Prednisolone hemisuccinatePhase 21033
10Prednisolone acetatePhase 21033
11Methylprednisolone HemisuccinatePhase 21033
12Sodium Pertechnetate Tc 99mPhase 17
13RadiopharmaceuticalsPhase 1345
14
Iodine4597553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
15cadexomer iodine425

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Generic vs. Name-Brand LevothyroxineCompletedNCT00403390Phase 3
2Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate CancerRecruitingNCT00104741Phase 3
3EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian CancerRecruitingNCT02001272Phase 2
4A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan IndicationRecruitingNCT02307175Phase 1
5TG Gene Mutations and Congenital HypothyroidismCompletedNCT00493103
6Diagnosis and Follow-up of Patients With Subclinical HypothyroidismCompletedNCT00497575
7Clinical Evaluation of NeoPlex4 Assay and NeoPlex SystemCompletedNCT01488721
8The Effects of Iodized Salt on Cognitive Development in EthiopiaCompletedNCT01349634
9Targeted Levothyroxine Dosing in Infants With Congenital HypothyroidismRecruitingNCT02374593
10Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?RecruitingNCT00505479
11Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital ChylothoraxRecruitingNCT00267345
12Treatment Trial of Subclinical Hypothyroidism in Down SyndromeRecruitingNCT01832753
13Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.Active, not recruitingNCT01916018
14X-chromosome Inactivation, Epigenetics and the TranscriptomeActive, not recruitingNCT01678261
15Study of an Intervention to Improve Problem List Accuracy and UseActive, not recruitingNCT01105923
16The Prevalence of Hearing Loss Among Children With Congenital HypothyroidismWithdrawnNCT01223638

Search NIH Clinical Center for Congenital Hypothyroidism


Cochrane evidence based reviews: Congenital Hypothyroidism

Genetic Tests for Congenital Hypothyroidism

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Genetic tests related to Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism22 24

Anatomical Context for Congenital Hypothyroidism

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MalaCards organs/tissues related to Congenital Hypothyroidism:

33
Thyroid, Brain, Testes, Bone, Skin, Liver, Tongue

Animal Models for Congenital Hypothyroidism or affiliated genes

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MGI Mouse Phenotypes related to Congenital Hypothyroidism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8DUOX2, PAX8, POU1F1, TPO, TSHR
2MP:00053797.3DUOX2, FOXE1, GLIS3, NKX2-1, PAX8, POU1F1
3MP:00053786.8DUOX2, GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1
4MP:00053766.1DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 669)
idTitleAuthorsYear
1
Congenital hypothyroidism: recent advances. (26313902)
2015
2
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. (25720050)
2015
3
Effect of atomoxetine on the cognitive functions in treatment of attention deficit hyperactivity disorder in children with congenital hypothyroidism: a pilot study. (25896257)
2015
4
Changes in the incidence and etiology of congenital hypothyroidism detected during 30A years of a screening program in central Serbia. (26346241)
2015
5
Diagnosis, treatment and outcome of congenital hypothyroidism. (25231444)
2014
6
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. (25403430)
2014
7
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. (24745015)
2014
8
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism. (25146893)
2014
9
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. (23840807)
2013
10
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. (23402602)
2013
11
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. (24117978)
2013
12
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. (24174944)
2013
13
Growth and specialized growth charts of children with congenital hypothyroidism detected by neonatal screening in isfahan, iran. (23476799)
2013
14
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? (23396030)
2012
15
Different aspects of kidney function in well-controlled congenital hypothyroidism. (23261862)
2012
16
Permanent and transient congenital hypothyroidism in preterm infants. (22107264)
2012
17
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. (20094846)
2010
18
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. (20122987)
2010
19
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. (20718765)
2010
20
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. (18787501)
2009
21
Neonatal sludge: a finding of congenital hypothyroidism. (21274296)
2009
22
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. (19858037)
2009
23
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. (18698134)
2009
24
Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. (18543337)
2008
25
Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. (18845185)
2008
26
Neuro-developmental deficits in early-treated congenital hypothyroidism. (19904446)
2008
27
Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. (18456702)
2008
28
Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. (18445672)
2008
29
Effects of levothyroxine therapy on left and right ventricular function in neonates with congenital hypothyroidism: a tissue Doppler echocardiography study. (17962990)
2007
30
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. (17218725)
2007
31
Recombinant thyrotropin in the diagnosis of congenital hypothyroidism. (17284628)
2007
32
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. (16882747)
2006
33
Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. (15719039)
2005
34
Genetics of congenital hypothyroidism. (15863666)
2005
35
Precocious puberty with congenital hypothyroidism. (15990731)
2005
36
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. (15329322)
2004
37
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. (14646397)
2004
38
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. (15012609)
2004
39
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. (15473876)
2004
40
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
41
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. (11916616)
2002
42
Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. (10377248)
1999
43
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. (9185526)
1997
44
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. (9226207)
1997
45
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. (8964831)
1996
46
Childhood IQ measurements in infants with transient congenital hypothyroidism. (7586623)
1995
47
RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism. (7539519)
1995
48
Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. (8104016)
1993
49
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
50
Clinical kernicterus and congenital hypothyroidism. (13493800)
1958

Variations for Congenital Hypothyroidism

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Expression for genes affiliated with Congenital Hypothyroidism

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Search GEO for disease gene expression data for Congenital Hypothyroidism.

Pathways for genes affiliated with Congenital Hypothyroidism

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Pathways related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TSHB, TSHR
29.1SLC5A5, TG, TPO, TSHR
39.1FOXE1, NKX2-1, PAX8, TSHB
4
Show member pathways
8.3DUOX2, IYD, SLC5A5, TPO, TSHB
5
Show member pathways
6.7DUOX2, FOXE1, IYD, NKX2-1, PAX8, SLC5A5

GO Terms for genes affiliated with Congenital Hypothyroidism

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Biological processes related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.6SLC5A5, TG
2cellular response to gonadotropin stimulusGO:007137110.6PAX8, SLC5A5
3thyroid-stimulating hormone signaling pathwayGO:003819410.5PAX8, TSHR
4pituitary gland developmentGO:002198310.2NKX2-1, POU1F1
5thyroid hormone metabolic processGO:004240310.0DUOX2, TG
6positive regulation of multicellular organism growthGO:004001810.0POU1F1, TSHR
7hydrogen peroxide catabolic processGO:00427449.9DUOX2, TPO
8anatomical structure morphogenesisGO:00096539.7FOXE1, PAX8, TSHB
9hormone biosynthetic processGO:00424469.7DUOX2, TG, TPO
10cellular nitrogen compound metabolic processGO:00346419.0DUOX2, IYD, SLC5A5, TPO
11thyroid hormone generationGO:00065908.7DUOX2, FOXE1, IYD, SLC5A5, TPO
12regulation of transcription from RNA polymerase II promoterGO:00063578.7FOXE1, GLIS3, NKX2-1, NKX2-5
13positive regulation of transcription, DNA-templatedGO:00458938.6FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
14thyroid gland developmentGO:00308788.3DUOX2, FOXE1, NKX2-1, NKX2-5, PAX8, TG
15positive regulation of transcription from RNA polymerase II promoterGO:00459448.2GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1
16negative regulation of transcription from RNA polymerase II promoterGO:00001228.1FOXE1, GLIS3, NKX2-1, NKX2-5, POU1F1
17transcription from RNA polymerase II promoterGO:00063667.8FOXE1, GLIS3, NKX2-5, PAX8, POU1F1

Molecular functions related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1thyroid-stimulating hormone receptor activityGO:000499610.5PAX8, TSHR
2iodide peroxidase activityGO:000444710.1IYD, TPO
3peroxidase activityGO:00046019.8DUOX2, TPO
4transcription regulatory region DNA bindingGO:00442129.4NKX2-1, NKX2-5, PAX8
5transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3NKX2-5, PAX8, POU1F1
6sequence-specific DNA bindingGO:00435658.3FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
7transcription factor activity, sequence-specific DNA bindingGO:00037007.6FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1

Sources for Congenital Hypothyroidism

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet