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 48 24 25 27 50 39 13 68
Cretinism 11 25
Myxedema, Congenital 68
Congenital Myxedema 25
 
Cyclic Neutropenia 68
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 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 TPO (Thyroid Peroxidase), and among its related pathways are Hormone ligand-binding receptors and Thyroxine (Thyroid Hormone) Production. Affiliated tissues include thyroid, brain and bone, 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 160)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia31.8FOXE1, NKX2-1, PAX8, TG, TSHR
2hypothryoidism, congenital, nongoitrous 430.7POU1F1, TG, TPO, TSHB
3diabetes mellitus, neonatal, with congenital hypothyroidism12.2
4central congenital hypothyroidism11.9
5idiopathic congenital hypothyroidism11.9
6cretinism athyreotic11.8
7congenital hypothyroidism, duox2-related11.8
8congenital hypothyroidism, iyd-related11.8
9congenital hypothyroidism, tpo-related11.8
10choreoathetosis, hypothyroidism, and neonatal respiratory distress11.8
11congenital hypothyroidism, duoxa2-related11.7
12genetic transient congenital hypothyroidism11.7
13congenital hypothyroidism due to maternal intake of antithyroid drugs11.7
14congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies11.7
15thyroid dyshormonogenesis 111.5
16chediak-higashi syndrome11.5
17thyroid dyshormonogenesis 2a11.4
18hypothyroidism, congenital, nongoitrous, 111.3
19hypothyroidism, central, and testicular enlargement11.2
20thryoid dyshormonogenesis 611.1
21neonatal hypothyroidism11.1
22pendred syndrome11.1
23central hypoventilation syndrome, congenital11.0
24hypothyroidism10.9
25macroglossia10.9
26hypothyroidism, congenital, nongoitrous, 610.9
27cluster headache10.8
28cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.8
29neutropenia, cyclic10.8
30thyroid dyshormonogenesis 410.7
31thyroid dyshormonogenesis 310.7
32thyroid dyshormonogenesis 510.7
33thyroiditis10.6
34ovarian endometrioid cystadenoma10.5TG, TPO
35transient hypogammaglobulinemia of infancy10.5NKX2-1, TG
36rhabdomyosarcoma, embryonal, 210.5TG, TPO
37peripheral scars of retina10.5TG, TPO
38chronic inflammatory demyelinating polyradiculoneuropathy10.4NKX2-1, TG
39demyelinating polyneuropathy10.4TG, TSHR
40nodular goiter10.4TG, TPO
41athyreosis10.4
42olecranon bursitis10.4PAX8, TSHR
43adult teratoma10.4NKX2-1, TG
44congenital anomaly of hepatic vein10.3NKX2-5, PAX8
45thyroid ectopia10.3
46tinea corporis10.3DUOX2, TG
47malignant mediastinum hemangiopericytoma10.3NKX2-1, TG, TPO
48chronic frontal sinusitis10.3TG, TPO
49malignant syringoma10.3NKX2-1, TG, TSHR
50benign mesothelioma10.2NKX2-1, TG, 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 35)
id Description HPO Frequency HPO Source Accession
1 abnormality of the tongue64 hallmark (90%) HP:0000157
2 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
3 hypothyroidism64 hallmark (90%) HP:0000821
4 muscular hypotonia64 hallmark (90%) HP:0001252
5 abnormality of the liver64 hallmark (90%) HP:0001392
6 umbilical hernia64 hallmark (90%) HP:0001537
7 constipation64 hallmark (90%) HP:0002019
8 sleep disturbance64 hallmark (90%) HP:0002360
9 aplasia/hypoplasia of the abdominal wall musculature64 hallmark (90%) HP:0010318
10 sinusitis64 typical (50%) HP:0000246
11 coarse facial features64 typical (50%) HP:0000280
12 depressed nasal ridge64 typical (50%) HP:0000457
13 dry skin64 typical (50%) HP:0000958
14 thickened skin64 typical (50%) HP:0001072
15 reduced tendon reflexes64 typical (50%) HP:0001315
16 abnormality of the voice64 typical (50%) HP:0001608
17 hypothermia64 typical (50%) HP:0002045
18 short stature64 typical (50%) HP:0004322
19 cognitive impairment64 typical (50%) HP:0100543
20 abnormality of reproductive system physiology64 occasional (7.5%) HP:0000080
21 oral cleft64 occasional (7.5%) HP:0000202
22 hearing impairment64 occasional (7.5%) HP:0000365
23 cataract64 occasional (7.5%) HP:0000518
24 optic atrophy64 occasional (7.5%) HP:0000648
25 nephrolithiasis64 occasional (7.5%) HP:0000787
26 hypertension64 occasional (7.5%) HP:0000822
27 anterior hypopituitarism64 occasional (7.5%) HP:0000830
28 goiter64 occasional (7.5%) HP:0000853
29 abnormality of the pericardium64 occasional (7.5%) HP:0001697
30 tracheoesophageal fistula64 occasional (7.5%) HP:0002575
31 hypotension64 occasional (7.5%) HP:0002615
32 paresthesia64 occasional (7.5%) HP:0003401
33 intestinal obstruction64 occasional (7.5%) HP:0005214
34 abnormality of epiphysis morphology64 occasional (7.5%) HP:0005930
35 arrhythmia64 occasional (7.5%) HP:0011675

UMLS symptoms related to Congenital Hypothyroidism:


cushingoid facies

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:00053797.3DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8
3MP:00053786.8DUOX2, FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8
4MP:00053766.5DUOX2, 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 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 413979
2Pharmaceutical SolutionsPhase 47793
3
Paclitaxelapproved, vet_approvedPhase 2275833069-62-436314
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
4
CarboplatinapprovedPhase 2198041575-94-410339178, 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+)
5
Methylprednisoloneapproved, vet_approvedPhase 2115383-43-26741
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
6
Prednisoloneapproved, vet_approvedPhase 2115350-24-85755
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)
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Deltacortenol
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Deltahydrocortisone
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Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
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Di-adreson F
DiAdresonF
Dicortol
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EINECS 200-021-7
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HMS1568H10
HMS2090J05
HSDB 3385
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Hydeltra
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Hydeltrasol
Hydeltrone
Hydrodeltalone
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Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
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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
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P0152_SIGMA
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Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
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Predonin
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Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
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Prestwick_404
Rolisone
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SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
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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
7Prednisolone acetatePhase 21153
8Prednisolone phosphatePhase 21153
9Prednisolone hemisuccinatePhase 21153
10Methylprednisolone acetatePhase 21153
11Methylprednisolone HemisuccinatePhase 21153
12Antimitotic AgentsPhase 25498
13Histamine H2 AntagonistsPhase 2160
14Antineoplastic Agents, PhytogenicPhase 25420
15Albumin-Bound PaclitaxelPhase 22757
16Histamine H1 AntagonistsPhase 2782
17Histamine AntagonistsPhase 2946
18Sodium Pertechnetate Tc 99mPhase 110
19RadiopharmaceuticalsPhase 1485
20
Iodine5467553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
21cadexomer iodine514
22Immunoglobulins6045
23Antibodies6045

Interventional clinical trials:

(show all 18)
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
4EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian CancerRecruitingNCT02001272Phase 2
5A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan IndicationRecruitingNCT02307175Phase 1
6Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?Unknown statusNCT00505479
7Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital ChylothoraxUnknown statusNCT00267345
8TG Gene Mutations and Congenital HypothyroidismCompletedNCT00493103
9Diagnosis and Follow-up of Patients With Subclinical HypothyroidismCompletedNCT00497575
10The Effects of Iodized Salt on Cognitive Development in EthiopiaCompletedNCT01349634
11Clinical Evaluation of NeoPlex4 Assay and NeoPlex SystemCompletedNCT01488721
12X-chromosome Inactivation, Epigenetics and the TranscriptomeCompletedNCT01678261
13Treatment Trial of Subclinical Hypothyroidism in Down SyndromeRecruitingNCT01832753
14Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.Active, not recruitingNCT01916018
15Targeted Levothyroxine Dosing in Infants With Congenital HypothyroidismActive, not recruitingNCT02374593
16NeoThyr - the Role of Mitochondria-dysfunction in Newborns of Mothers With Autoimmune Thyroid DiseaseActive, not recruitingNCT02061111
17Study of an Intervention to Improve Problem List Accuracy and UseActive, not recruitingNCT01105923
18The 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, Bone, Testes, Skin, Liver, Tongue

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 731)
idTitleAuthorsYear
1
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. (27862717)
2017
2
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. (28060725)
2017
3
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. (27793676)
2017
4
Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism. (27267969)
2016
5
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. (27349010)
2016
6
Congenital hypothyroidism with delayed thyroid-stimulating hormone elevation in premature infants born at less than 30 weeks gestation. (27906195)
2016
7
A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody. (27777909)
2016
8
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. (27637299)
2016
9
Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10a88mU/L. (27016213)
2016
10
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. (27061120)
2016
11
Detecting congenital hypothyroidism with newborn screening: the relevance of thyroid-stimulating hormone cutoff values. (28024960)
2016
12
Liothyronine Improves Biochemical Control of Congenital Hypothyroidism in Patients with Central Resistance to Thyroid Hormone. (27178621)
2016
13
CONGENITAL HYPOTHYROIDISM AND BONE REMODELING CYCLE. (27840329)
2016
14
Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation. (27639769)
2016
15
Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review. (27942261)
2016
16
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management. (27511826)
2016
17
Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia. (27658135)
2016
18
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. (26742565)
2016
19
The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran. (27941171)
2016
20
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. (27557340)
2016
21
Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. (27086592)
2016
22
Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn. (27595265)
2016
23
Congenital hypothyroidism - Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism. (27828692)
2016
24
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. (27525530)
2016
25
Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran. (27611842)
2016
26
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. (27060741)
2016
27
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter. (27421132)
2016
28
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. (27108200)
2016
29
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. (27283138)
2016
30
Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. (27089409)
2016
31
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
32
Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. (27595483)
2016
33
Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities. (27994903)
2016
34
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. (27173810)
2016
35
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. (26777470)
2016
36
Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. (27477291)
2016
37
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. (26990941)
2016
38
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. (27207603)
2016
39
Perfluoroalkyl substances in serum from South Korean infants with congenital hypothyroidism and healthy infants - Its relationship with thyroid hormones. (26950028)
2016
40
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. (27166716)
2016
41
Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism. (27696498)
2016
42
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. (26995701)
2016
43
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. (27169104)
2016
44
Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. (27494505)
2016
45
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. (27255745)
2016
46
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. (27135621)
2016
47
National Survey on Concepts for Congenital Hypothyroidism Screening of NICUs in Japan. (27192394)
2016
48
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. (26735259)
2016
49
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. (27373559)
2016
50
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. (27498126)
2016

Variations for Congenital Hypothyroidism

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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
2TSHRNM_000369.2(TSHR): c.1637G> A (p.Trp546Ter)SNVPathogenicrs121908866GRCh37Chr 14, 81610039: 81610039
3TSHRNM_000369.2(TSHR): c.1657G> A (p.Ala553Thr)SNVLikely pathogenic, Pathogenicrs121908872GRCh37Chr 14, 81610059: 81610059

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:00056678.9NKX2-1, NKX2-5, POU1F1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cellular response to gonadotropin stimulusGO:007137110.6PAX8, SLC5A5
2thyroid-stimulating hormone signaling pathwayGO:003819410.6PAX8, TSHR
3iodide transportGO:001570510.5SLC5A5, TG
4hydrogen peroxide catabolic processGO:004274410.5DUOX2, TPO
5pituitary gland developmentGO:002198310.4NKX2-1, POU1F1
6positive regulation of multicellular organism growthGO:004001810.4POU1F1, TSHR
7thyroid hormone metabolic processGO:004240310.4DUOX2, TG
8hormone biosynthetic processGO:004244610.2DUOX2, TG, TPO
9anatomical structure morphogenesisGO:000965310.0FOXE1, PAX8, TSHB
10cellular oxidant detoxificationGO:00988699.9DUOX2, IYD, TPO
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.9GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1
12negative regulation of transcription from RNA polymerase II promoterGO:00001228.9FOXE1, GLIS3, NKX2-1, NKX2-5, POU1F1
13positive regulation of transcription, DNA-templatedGO:00458938.8FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
14thyroid hormone generationGO:00065908.7DUOX2, FOXE1, IYD, SLC5A5, TG, TPO
15thyroid gland developmentGO:00308788.6DUOX2, FOXE1, NKX2-1, NKX2-5, PAX8, TG
16transcription from RNA polymerase II promoterGO:00063668.5GLIS3, NKX2-5, PAX8, POU1F1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1thyroid-stimulating hormone receptor activityGO:000499610.6PAX8, TSHR
2peroxidase activityGO:000460110.5DUOX2, TPO
3iodide peroxidase activityGO:000444710.3IYD, TPO
4transcription regulatory region DNA bindingGO:00442129.7NKX2-1, NKX2-5, PAX8
5sequence-specific DNA bindingGO:00435658.9FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
6transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8NKX2-5, PAX8, POU1F1
7transcription factor activity, sequence-specific DNA bindingGO:00037008.8FOXE1, NKX2-1, NKX2-5, PAX8, POU1F1
8DNA bindingGO:00036778.6FOXE1, GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1

Sources for Congenital Hypothyroidism

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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