CH
MCID: CNG006
MIFTS: 60

Congenital Hypothyroidism (CH) 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 48 24 25 27 50 39 13 68
Cretinism 11 25
Myxedema, Congenital 68
Congenital Myxedema 25
 
Endemic Cretinism 68
Cht 25
Ch 25

Classifications:



Summaries for Congenital Hypothyroidism

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NIH Rare Diseases:48 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 choreoathetosis, hypothyroidism, and neonatal respiratory distress and hypothyroidism, congenital, nongoitrous, 1, and has symptoms including hypogonadism, macroglossia and oral cleft. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways are Hormone ligand-binding receptors and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include thyroid, brain and testes, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

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

Genetics Home Reference:25 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:71 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 169)
idRelated DiseaseScoreTop Affiliating Genes
1choreoathetosis, hypothyroidism, and neonatal respiratory distress32.6NKX2-1, PAX8, TG, TPO, TSHR
2hypothyroidism, congenital, nongoitrous, 132.2TG, TPO, TSHR
3infertility29.9NKX2-1, TG
4kidney disease29.5NKX2-1, TG
5diabetes mellitus, neonatal, with congenital hypothyroidism12.2
6central congenital hypothyroidism11.9
7idiopathic congenital hypothyroidism11.9
8cretinism athyreotic11.8
9congenital hypothyroidism, duox2-related11.8
10congenital hypothyroidism, iyd-related11.8
11congenital hypothyroidism, tpo-related11.8
12congenital hypothyroidism, duoxa2-related11.7
13genetic transient congenital hypothyroidism11.7
14congenital hypothyroidism due to maternal intake of antithyroid drugs11.7
15congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies11.7
16hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia11.7
17thyroid dyshormonogenesis 111.5
18chediak-higashi syndrome11.5
19thyroid dyshormonogenesis 2a11.4
20hypothyroidism, central, and testicular enlargement11.2
21thryoid dyshormonogenesis 611.1
22hypothryoidism, congenital, nongoitrous 411.1
23neonatal hypothyroidism11.1
24pendred syndrome11.1
25central hypoventilation syndrome, congenital11.0
26hypothyroidism10.9
27macroglossia10.9
28hypothyroidism, congenital, nongoitrous, 610.9
29cluster headache10.8
30cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.8
31neutropenia, cyclic10.8
32thyroid dyshormonogenesis 410.7
33thyroid dyshormonogenesis 310.7
34thyroid dyshormonogenesis 510.7
35thyroiditis10.6
36athyreosis10.4
37thyroid ectopia10.3
38fibrous meningioma10.3TG, TPO
39chromophil adenoma of the kidney10.3NKX2-1, TG
40bladder flat intraepithelial lesion10.2PAX8, TG
41tick paralysis10.2TG, TPO
42echinostomiasis10.2DUOX2, TG
43acute hemorrhagic encephalitis10.2TG, TSHR
44tmem70 defect10.2NKX2-1, PAX8, TG
45potter's syndrome10.2PAX8, TSHR
46frontal sinusitis10.2TG, TPO
47aortic valve atresia10.2NKX2-5, PAX8
48gastrinoma10.2NKX2-1, TG, TSHR
49conjunctival deposit10.2TG, TPO, TSHR
50endemic goiter10.2TG, TPO, TSHR

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



Diseases related to congenital hypothyroidism

Symptoms & Phenotypes for Congenital Hypothyroidism

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Human phenotypes related to Congenital Hypothyroidism:

 64 (show all 43)
id Description HPO Frequency HPO Source Accession
1 hypogonadism64 HP:0000135
2 macroglossia64 HP:0000158
3 oral cleft64 HP:0000202
4 sinusitis64 HP:0000246
5 coarse facial features64 HP:0000280
6 hearing impairment64 HP:0000365
7 depressed nasal ridge64 HP:0000457
8 anosmia64 HP:0000458
9 abnormality of vision64 HP:0000504
10 cataract64 HP:0000518
11 optic atrophy64 HP:0000648
12 depression64 HP:0000716
13 anxiety64 HP:0000739
14 nephrolithiasis64 HP:0000787
15 hypothyroidism64 HP:0000821
16 hypertension64 HP:0000822
17 anterior hypopituitarism64 HP:0000830
18 goiter64 HP:0000853
19 angiokeratoma corporis diffusum64 HP:0001071
20 muscular hypotonia64 HP:0001252
21 global developmental delay64 HP:0001263
22 reduced tendon reflexes64 HP:0001315
23 umbilical hernia64 HP:0001537
24 abnormality of the hair64 HP:0001595
25 hoarse cry64 HP:0001615
26 abnormality of the pericardium64 HP:0001697
27 constipation64 HP:0002019
28 hypothermia64 HP:0002045
29 sleep disturbance64 HP:0002360
30 tracheoesophageal fistula64 HP:0002575
31 hypotension64 HP:0002615
32 abdominal distention64 HP:0003270
33 paresthesia64 HP:0003401
34 short stature64 HP:0004322
35 large posterior fontanelle64 HP:0004491
36 intestinal obstruction64 HP:0005214
37 abnormality of epiphysis morphology64 HP:0005930
38 prolonged neonatal jaundice64 HP:0006579
39 thyroid dysgenesis64 HP:0008188
40 feeding difficulties in infancy64 HP:0008872
41 intellectual disability, severe64 HP:0010864
42 arrhythmia64 HP:0011675
43 palpebral edema64 HP:0100540

MGI Mouse Phenotypes related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4DUOX2, PAX8, POU1F1, TPO, TSHR
2MP:00053797.5DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8
3MP:00053787.0DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8
4MP:00053766.7DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8

Drugs & Therapeutics for Congenital Hypothyroidism

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

(show all 32)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 4, Phase 3, Early Phase 114415
2Pharmaceutical SolutionsPhase 48192
3
FlutamideapprovedPhase 36413311-84-73397
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
4Hormone AntagonistsPhase 313180
5Triptorelin PamoatePhase 3169
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
7Luteolytic AgentsPhase 3306
8Contraceptive AgentsPhase 31967
9Androgen AntagonistsPhase 3320
10AndrogensPhase 31321
11Antineoplastic Agents, HormonalPhase 35592
12
CarboplatinapprovedPhase 2205041575-94-410339178, 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+)
13
Prednisoloneapproved, vet_approvedPhase 2119350-24-85755
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
14
Methylprednisoloneapproved, vet_approvedPhase 2119383-43-26741
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
15
Paclitaxelapproved, vet_approvedPhase 2286433069-62-436314
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
16Prednisolone hemisuccinatePhase 21193
17Methylprednisolone HemisuccinatePhase 21193
18Prednisolone phosphatePhase 21193
19Prednisolone acetatePhase 21193
20Histamine AntagonistsPhase 2961
21Antimitotic AgentsPhase 25657
22Methylprednisolone acetatePhase 21193
23Antineoplastic Agents, PhytogenicPhase 25602
24Albumin-Bound PaclitaxelPhase 22864
25Histamine H2 AntagonistsPhase 2168
26Histamine H1 AntagonistsPhase 2791
27Sodium Pertechnetate Tc 99mPhase 112
28RadiopharmaceuticalsPhase 1514
29
Iodine5707553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
30cadexomer iodine537
31ImmunoglobulinsEarly Phase 16394
32AntibodiesEarly Phase 16394

Interventional clinical trials:

(show all 20)
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
3Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate CancerUnknown statusNCT00104741Phase 3
4Generic vs. Name-Brand LevothyroxineCompletedNCT00403390Phase 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
7Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?Unknown statusNCT00505479
8Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital ChylothoraxUnknown statusNCT00267345
9TG Gene Mutations and Congenital HypothyroidismCompletedNCT00493103
10Targeted Levothyroxine Dosing in Infants With Congenital HypothyroidismCompletedNCT02374593
11Diagnosis and Follow-up of Patients With Subclinical HypothyroidismCompletedNCT00497575
12The Effects of Iodized Salt on Cognitive Development in EthiopiaCompletedNCT01349634
13Clinical Evaluation of NeoPlex4 Assay and NeoPlex SystemCompletedNCT01488721
14X-chromosome Inactivation, Epigenetics and the TranscriptomeCompletedNCT01678261
15Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.Active, not recruitingNCT01916018
16NeoThyr - the Role of Mitochondria-dysfunction in Newborns of Mothers With Autoimmune Thyroid DiseaseActive, not recruitingNCT02061111
17Treatment Trial of Subclinical Hypothyroidism in Down SyndromeActive, not recruitingNCT01832753
18Study of an Intervention to Improve Problem List Accuracy and UseActive, not recruitingNCT01105923
19Recurrent Pregnancy Loss and Thyroid DiseaseEnrolling by invitationNCT03106935Early Phase 1
20The 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 Hypothyroidism27 24

Anatomical Context for Congenital Hypothyroidism

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MalaCards organs/tissues related to Congenital Hypothyroidism:

36
Thyroid, Brain, Testes, Bone, Heart, Kidney, Pituitary

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 752)
idTitleAuthorsYear
1
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. (27862717)
2017
2
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. (28412200)
2017
3
Congenital Hypothyroidism: Facts, Facets & Therapy. (28176629)
2017
4
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. (28060725)
2017
5
Cognitive profiles of patients with early detected and treated congenital hypothyroidism. (28097835)
2017
6
Congenital Hypothyroidism: Role of Nuclear Medicine. (28237002)
2017
7
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism. (28328531)
2017
8
Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey. (28368265)
2017
9
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. (28358714)
2017
10
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. (28398607)
2017
11
Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. (28225993)
2017
12
Erratum to: Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study. (28356101)
2017
13
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. (28285292)
2017
14
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. (28215547)
2017
15
A Frequent Oligogenic Involvement in Congenital Hypothyroidism. (28444304)
2017
16
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. (28455095)
2017
17
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. (28359061)
2017
18
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. (27793676)
2017
19
Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study. (27216400)
2016
20
Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran. (27611842)
2016
21
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. (27108200)
2016
22
Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities. (27994903)
2016
23
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. (26709262)
2016
24
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. (26995701)
2016
25
Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. (27477291)
2016
26
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. (27061120)
2016
27
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. (27207603)
2016
28
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. (27115209)
2016
29
Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. (27089409)
2016
30
Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. (27494505)
2016
31
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. (27557340)
2016
32
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. (27349010)
2016
33
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. (27060741)
2016
34
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. (27373559)
2016
35
Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review. (27942261)
2016
36
CONGENITAL HYPOTHYROIDISM AND BONE REMODELING CYCLE. (27840329)
2016
37
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. (27255745)
2016
38
A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody. (27777909)
2016
39
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. (26742565)
2016
40
The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran. (27941171)
2016
41
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. (26777470)
2016
42
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. (28144251)
2016
43
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. (27169104)
2016
44
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. (27283138)
2016
45
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families. (27244801)
2016
46
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter. (27421132)
2016
47
Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. (27086592)
2016
48
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. (27135621)
2016
49
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. (27166716)
2016
50
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. (27173810)
2016

Variations for Congenital Hypothyroidism

About this section

Clinvar genetic disease variations for Congenital Hypothyroidism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TPONM_ 000547.5(TPO): c.2395G> A (p.Glu799Lys)SNVPathogenicrs121908085GRCh37Chr 2, 1507728: 1507728

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

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Cellular components related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.1NKX2-1, NKX2-5, POU1F1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:004274410.7DUOX2, TPO
2pituitary gland developmentGO:002198310.4NKX2-1, POU1F1
3thyroid-stimulating hormone signaling pathwayGO:003819410.4PAX8, TSHR
4hormone biosynthetic processGO:004244610.4DUOX2, TG, TPO
5hormone-mediated signaling pathwayGO:000975510.4TSHB, TSHR
6positive regulation of multicellular organism growthGO:004001810.3POU1F1, TSHR
7cellular oxidant detoxificationGO:009886910.2DUOX2, IYD, TPO
8iodide transportGO:001570510.1SLC5A5, TG
9anatomical structure morphogenesisGO:000965310.1FOXE1, PAX8, TSHB
10cellular response to gonadotropin stimulusGO:007137110.1PAX8, SLC5A5
11thyroid hormone metabolic processGO:004240310.1DUOX2, IYD, TG
12regulation of transcription from RNA polymerase II promoterGO:00063579.5FOXE1, GLIS3, NKX2-1, NKX2-5
13positive regulation of transcription, DNA-templatedGO:00458939.2FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
14negative regulation of transcription from RNA polymerase II promoterGO:00001229.1FOXE1, GLIS3, NKX2-1, NKX2-5, POU1F1
15positive regulation of transcription from RNA polymerase II promoterGO:00459449.0GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1
16thyroid hormone generationGO:00065909.0DUOX2, FOXE1, IYD, SLC5A5, TPO
17thyroid gland developmentGO:00308789.0DUOX2, FOXE1, NKX2-1, NKX2-5, PAX8, TG
18transcription from RNA polymerase II promoterGO:00063668.6GLIS3, NKX2-5, PAX8, POU1F1

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

idNameGO IDScoreTop Affiliating Genes
1peroxidase activityGO:000460110.6DUOX2, TPO
2iodide peroxidase activityGO:000444710.6IYD, TPO
3thyroid-stimulating hormone receptor activityGO:000499610.5PAX8, TSHR
4transcription regulatory region DNA bindingGO:00442129.3NKX2-1, NKX2-5, PAX8
5sequence-specific DNA bindingGO:00435659.2FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
6transcription factor activity, sequence-specific DNA bindingGO:00037009.0FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1

Sources for Congenital Hypothyroidism

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet