MCID: CNG006
MIFTS: 59

Congenital Hypothyroidism malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism

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Aliases & Descriptions for Congenital Hypothyroidism:

Name: Congenital Hypothyroidism 11 46 23 24 13 25 48 37 66
Cretinism 11 24
Myxedema, Congenital 66
Congenital Myxedema 24
 
Endemic Cretinism 66
Cht 24
Ch 24

Classifications:



Summaries for Congenital Hypothyroidism

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NIH Rare Diseases:46 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. in the united states and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. if untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. if treatment begins in the first month after birth, infants usually develop normally. treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. about 15-20% of cases are due to an underlying gene mutation. rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome. last updated: 2/19/2016

MalaCards based summary: Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia and hypothryoidism, congenital, nongoitrous 4, 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 homeostasis/metabolism and endocrine/exocrine gland.

Disease Ontology:11 A hypothyroidism that is present at birth.

Genetics Home Reference:24 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.

Wikipedia:69 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

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
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 165)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia31.9FOXE1, NKX2-1, PAX8, TG, TSHR
2hypothryoidism, congenital, nongoitrous 431.5TG, TPO, TSHB
3diabetes mellitus, neonatal, with congenital hypothyroidism12.2
4central congenital hypothyroidism12.0
5idiopathic congenital hypothyroidism12.0
6cretinism athyreotic11.9
7congenital hypothyroidism, duox2-related11.9
8congenital hypothyroidism, iyd-related11.9
9congenital hypothyroidism, tpo-related11.9
10congenital hypothyroidism, duoxa2-related11.9
11genetic transient congenital hypothyroidism11.9
12congenital hypothyroidism due to maternal intake of antithyroid drugs11.9
13congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies11.9
14choreoathetosis, hypothyroidism, and neonatal respiratory distress11.6
15chediak-higashi syndrome11.5
16hypothyroidism, congenital, nongoitrous, 111.4
17hypothyroidism, central, and testicular enlargement11.3
18fetal iodine deficiency disorder11.2
19thyroid dyshormonogenesis 111.2
20thyroid dyshormonogenesis 2a11.2
21thryoid dyshormonogenesis 611.2
22neonatal hypothyroidism11.2
23hypothyroidism11.0
24hypothyroidism, congenital, nongoitrous, 611.0
25cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.9
26neutropenia, cyclic10.9
27thyroid dyshormonogenesis 410.9
28thyroid dyshormonogenesis 310.9
29thyroid dyshormonogenesis 510.9
30thyroiditis10.7
31ovarian endometrioid cystadenoma10.6TG, TPO
32transient hypogammaglobulinemia of infancy10.5NKX2-1, TG
33rhabdomyosarcoma, embryonal, 210.5TG, TPO
34peripheral scars of retina10.5TG, TPO
35athyreosis10.5
36chronic inflammatory demyelinating polyradiculoneuropathy10.5NKX2-1, TG
37thyroid ectopia10.4
38nodular goiter10.4TG, TPO
39norwegian scabies10.4FOXE1, TG
40demyelinating polyneuropathy10.4TG, TSHR
41congenital anomaly of hepatic vein10.4NKX2-5, PAX8
42adult teratoma10.4NKX2-1, TG
43olecranon bursitis10.4PAX8, TSHR
44malignant mediastinum hemangiopericytoma10.4NKX2-1, TG, TPO
45venezuelan equine encephalitis10.4FOXE1, NKX2-1, TPO
46dysautonomia, familial10.3FOXE1, TG, TPO
47chronic frontal sinusitis10.3TG, TPO
48malignant syringoma10.3NKX2-1, TG, TSHR
49benign mesothelioma10.3NKX2-1, TG, TSHR
50hypertelorism, preauricular sinus, punctal pits, and deafness10.2TG, TPO, TSHR

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

UMLS symptoms related to Congenital Hypothyroidism:


cushingoid facies

Drugs & Therapeutics for Congenital Hypothyroidism

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FlutamidePhase 36213311-84-73397
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
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 3157
3
PrednisolonePhase 2111850-24-85755
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
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
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
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 (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
4PREDNISOLONE ACETATEPhase 21118
5
PaclitaxelPhase 2269133069-62-436314
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
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
6
MethylprednisolonePhase 2111883-43-26741
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
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)
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
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
7
CarboplatinPhase 2194241575-94-410339178, 498142, 38904
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+)
8
Iodine5167553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
9cadexomer iodine484

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine SupplementationCompletedNCT00360074Phase 4
2Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired HypothyroidismRecruitingNCT02917863Phase 4
3Generic vs. Name-Brand LevothyroxineCompletedNCT00403390Phase 3
4Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate CancerRecruitingNCT00104741Phase 3
5EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian CancerRecruitingNCT02001272Phase 2
6A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan IndicationRecruitingNCT02307175Phase 1
7TG Gene Mutations and Congenital HypothyroidismCompletedNCT00493103
8Diagnosis and Follow-up of Patients With Subclinical HypothyroidismCompletedNCT00497575
9The Effects of Iodized Salt on Cognitive Development in EthiopiaCompletedNCT01349634
10Clinical Evaluation of NeoPlex4 Assay and NeoPlex SystemCompletedNCT01488721
11X-chromosome Inactivation, Epigenetics and the TranscriptomeCompletedNCT01678261
12Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?RecruitingNCT00505479
13Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital ChylothoraxRecruitingNCT00267345
14Treatment Trial of Subclinical Hypothyroidism in Down SyndromeRecruitingNCT01832753
15Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.Active, not recruitingNCT01916018
16Targeted Levothyroxine Dosing in Infants With Congenital HypothyroidismActive, not recruitingNCT02374593
17NeoThyr - the Role of Mitochondria-dysfunction in Newborns of Mothers With Autoimmune Thyroid DiseaseActive, not recruitingNCT02061111
18Study of an Intervention to Improve Problem List Accuracy and UseActive, not recruitingNCT01105923
19The 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 Hypothyroidism25 23

Anatomical Context for Congenital Hypothyroidism

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MalaCards organs/tissues related to Congenital Hypothyroidism:

34
Thyroid, Brain, Testes, Bone, Skin, Liver, Heart

Animal Models for Congenital Hypothyroidism or affiliated genes

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MGI Mouse Phenotypes related to Congenital Hypothyroidism:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8
2MP:00053797.0DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8
3MP:00053786.3DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8

Publications for Congenital Hypothyroidism

About this section

Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 716)
idTitleAuthorsYear
1
Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism. (27267969)
2016
2
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. (27349010)
2016
3
NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM. (27004363)
2015
4
Congenital hypothyroidism: recent advances. (26313902)
2015
5
Hippocampal Functioning and Verbal Associative Memory in Adolescents with Congenital Hypothyroidism. (26539162)
2015
6
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. (26362610)
2015
7
Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses. (25346918)
2014
8
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. (25153580)
2014
9
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. (23840807)
2013
10
A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism. (23412856)
2013
11
Neuroplastic effects of music lessons on hippocampal volume in children with congenital hypothyroidism. (24064411)
2013
12
Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003-2010). (23793431)
2013
13
Different aspects of kidney function in well-controlled congenital hypothyroidism. (23261862)
2012
14
Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. (22953072)
2012
15
A case of congenital hypothyroidism in PHACE syndrome. (22876567)
2012
16
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. (22898500)
2012
17
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. (20718765)
2010
18
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. (21048839)
2010
19
Effect of temperature changes on the occurrence of congenital hypothyroidism. (20956721)
2010
20
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect. (21340161)
2010
21
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. (18787501)
2009
22
Neonatal sludge: a finding of congenital hypothyroidism. (21274296)
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
Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. (18547957)
2008
27
Clinical description of infants with congenital hypothyroidism and iodide organification defects. (18772598)
2008
28
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. (17980011)
2008
29
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. (17218725)
2007
30
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. (17374849)
2007
31
Longitudinal assessment of levo-thyroxine therapy for congenital hypothyroidism: relationship with aetiology, bone maturation and biochemical features. (17337903)
2007
32
Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. (17307219)
2007
33
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. (17437516)
2007
34
Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. (15719039)
2005
35
Genetics of congenital hypothyroidism. (15863666)
2005
36
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. (14646397)
2004
37
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. (15012609)
2004
38
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. (15473876)
2004
39
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. (14725684)
2004
40
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. (15289765)
2004
41
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
42
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. (11916616)
2002
43
Congenital hypothyroidism: etiologies, diagnosis, and management. (10447022)
1999
44
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. (8964831)
1996
45
Childhood IQ measurements in infants with transient congenital hypothyroidism. (7586623)
1995
46
Bone mineral metabolism and thyroid replacement therapy in congenital hypothyroid infants and young children. (7560809)
1995
47
Circulating thyroid antibodies in congenital hypothyroidism. (1659767)
1991
48
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
49
Bromide partition test in the evaluation of the blood-cerebrospinal barrier in children with congenital hypothyroidism and central nervous system disease. (1224969)
1975
50
Clinical kernicterus and congenital hypothyroidism. (13493800)
1958

Variations for Congenital Hypothyroidism

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Copy number variations for Congenital Hypothyroidism from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
122575775031492350440292Copy numberCongenital hypothyroidism

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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GO Terms for genes affiliated with Congenital Hypothyroidism

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:001570510.3SLC5A5, TG
2thyroid-stimulating hormone signaling pathwayGO:003819410.1PAX8, TSHR
3hydrogen peroxide catabolic processGO:004274410.1DUOX2, TPO
4cellular response to gonadotropin stimulusGO:007137110.1PAX8, SLC5A5
5thyroid hormone metabolic processGO:00424039.8DUOX2, TG
6cellular oxidant detoxificationGO:00988699.6DUOX2, IYD, TPO
7hormone biosynthetic processGO:00424469.4DUOX2, TG, TPO
8anatomical structure morphogenesisGO:00096539.4FOXE1, PAX8, TSHB
9positive regulation of transcription, DNA-templatedGO:00458939.2FOXE1, NKX2-1, NKX2-5, PAX8
10thyroid gland developmentGO:00308788.8DUOX2, FOXE1, NKX2-1, NKX2-5, PAX8, TG
11thyroid hormone generationGO:00065908.4DUOX2, FOXE1, IYD, SLC5A5, TG, TPO

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

idNameGO IDScoreTop Affiliating Genes
1iodide peroxidase activityGO:000444710.3IYD, TPO
2thyroid-stimulating hormone receptor activityGO:000499610.1PAX8, TSHR
3peroxidase activityGO:000460110.0DUOX2, TPO
4transcription regulatory region DNA bindingGO:00442129.6NKX2-1, NKX2-5, PAX8
5sequence-specific DNA bindingGO:00435659.2FOXE1, NKX2-1, NKX2-5, PAX8

Sources for Congenital Hypothyroidism

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet