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MCID: CNT101
MIFTS: 35

Central Congenital Hypothyroidism

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Central Congenital Hypothyroidism

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MalaCards integrated aliases for Central Congenital Hypothyroidism:

Name: Central Congenital Hypothyroidism 52 58
Secondary Hypothyroidism 52 58 29 6 71

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


Sources

Summaries for Central Congenital Hypothyroidism

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 226298 Definition Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. Epidemiology Prevalence is unknown. Clinical description The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice , myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia . Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment central hypothyroidism results in intellectual deficit and short stature . Etiology Central hypothyroidism usually results from defects of TSH production and is often part of a disorder causing congenital hypopituitarism (see this term), in which case the clinical signs may also include septo-optic dysplasia or cleft lip and/or palate as well as other signs of hypopituitarism, or part of a larger genetic syndrome such as pituitary stalk interruption syndrome (see this term). Mutations in genes regulating pituitary gland development including HESX1 , LHX3 , LHX4 , POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q) may also cause central hypothyroidism. Central hypothyroidism may also result from isolated TSH deficiency (see this term), which is transmitted in an autosomal recessive manner and is caused by mutations in the TSHB subunit gene (1p13), or from TRH resistance (see this term) caused by mutations in the TRH receptor gene (TRHR ; 8q23). Visit the Orphanet disease page for more resources.

MalaCards based summary : Central Congenital Hypothyroidism, also known as secondary hypothyroidism, is related to hypothyroidism, central, with testicular enlargement and congenital hypothyroidism. An important gene associated with Central Congenital Hypothyroidism is TSHB (Thyroid Stimulating Hormone Subunit Beta). The drugs Dopamine and Dopamine Agents have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and brain, and related phenotypes are macroglossia and coarse facial features

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Related Diseases for Central Congenital Hypothyroidism

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Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Rare Adult Hypothyroidism
Transient Congenital Hypothyroidism Rare Hypothyroidism
Primary Congenital Hypothyroidism Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Transient Congenital Hypothyroidism Due to Maternal Factor
Transient Congenital Hypothyroidism Due to Neonatal Factor Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies
Congenital Hypothyroidism Due to Developmental Anomaly

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, central, with testicular enlargement 31.4 TSHB TRHR
2 congenital hypothyroidism 29.7 TSHB TRHR
3 hypothyroidism 29.6 TSHB TRHR
4 graves' disease 10.2
5 hypothyroidism, congenital, nongoitrous, 4 10.0
6 hemochromatosis, type 1 9.8
7 goiter 9.8
8 hypogonadism 9.8
9 adenoma 9.8
10 graves disease 1 9.8
11 alacrima, achalasia, and mental retardation syndrome 9.8
12 helix syndrome 9.8
13 hypothyroidism, congenital, nongoitrous, 7 9.8
14 neonatal jaundice 9.8
15 pituitary gland disease 9.8
16 hyperthyroidism 9.8
17 hypopituitarism 9.8
18 hypoglycemia 9.8
19 congenital hypopituitarism 9.8
20 primary congenital hypothyroidism 9.8
21 systemic lupus erythematosus 9.7
22 myxedema 9.7
23 ocular motor apraxia 9.7
24 pituitary hormone deficiency, combined, 2 9.7
25 pituitary adenoma, prolactin-secreting 9.7
26 hemochromatosis, type 2a 9.7
27 astigmatism 9.7
28 nasopharyngeal carcinoma 9.7
29 diabetes mellitus, ketosis-prone 9.7
30 adrenal cortical adenoma 9.7
31 umbilical hernia 9.7
32 familial glucocorticoid deficiency 9.7
33 hypogonadotropic hypogonadism 9.7
34 hemochromatosis type 2 9.7
35 keratoconus 9.7
36 conn's syndrome 9.7
37 hemosiderosis 9.7
38 amenorrhea 9.7
39 constipation 9.7
40 empty sella syndrome 9.7
41 arthropathy 9.7
42 pituitary adenoma 9.7
43 myopathy 9.7
44 fibromyalgia 9.7
45 lupus erythematosus 9.7
46 diabetes insipidus 9.7
47 dwarfism 9.7
48 growth hormone deficiency 9.7
49 pituitary tumors 9.7
50 rare hereditary hemochromatosis 9.7

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



Diseases related to Central Congenital Hypothyroidism
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Symptoms & Phenotypes for Central Congenital Hypothyroidism

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Human phenotypes related to Central Congenital Hypothyroidism:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
5 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
6 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
7 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
8 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
9 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
10 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
11 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
12 hoarse cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0001615
13 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
14 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
15 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
16 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
17 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
18 abnormality of the hypothalamus-pituitary axis 58 31 frequent (33%) Frequent (79-30%) HP:0000864
19 septo-optic dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100842
20 central hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0011787
21 abnormal eyebrow morphology 31 frequent (33%) HP:0000534
22 hypothyroidism 58 Very frequent (99-80%)
23 abnormality of the fingernails 58 Very frequent (99-80%)
24 abnormality of the face 58 Very frequent (99-80%)
25 abnormality of the endocrine system 58 Frequent (79-30%)
26 abnormality of the eyebrow 58 Frequent (79-30%)
27 oral cleft 58 Frequent (79-30%)
Sources

Drugs & Therapeutics for Central Congenital Hypothyroidism

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2 Dopamine Agents Phase 3
3 Neurotransmitter Agents Phase 3
4 Cardiotonic Agents Phase 3
5 Sympathomimetics Phase 3
6 Protective Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomised, Controlled, Crossover Study: Treatment With Thyroxin Compared to Thyroxin + Triiodothyronin in Patients With Secondary Hypothyroidism Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
2 Management of Hypotension In Preterm Infants: The HIP Trial Protocol for a Randomized Controlled Trial of Hypotension Management in the Extremely Low Gestational Age Newborn Terminated NCT01482559 Phase 3 Dopamine hydrochloride;Dextrose 5%

Search NIH Clinical Center for Central Congenital Hypothyroidism

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Genetic Tests for Central Congenital Hypothyroidism

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Genetic tests related to Central Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Secondary Hypothyroidism 29 TSHB
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Anatomical Context for Central Congenital Hypothyroidism

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MalaCards organs/tissues related to Central Congenital Hypothyroidism:

40
Thyroid, Pituitary, Brain, Testes, Hypothalamus, Skin, Heart
Sources

Publications for Central Congenital Hypothyroidism

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Articles related to Central Congenital Hypothyroidism:

(show top 50) (show all 322)
# Title Authors PMID Year
1
Incidence of thyroid disease in patients with forefoot deformity. 61
31186135 2020
2
Thyroid gland changes in patients with acromegaly. 61
32555993 2020
3
Quetiapine-Induced Central Hypothyroidism. 61
32036034 2020
4
Hypothyroidism Due to Iodine Overload in Children Receiving Peritoneal Dialysis: A Report of 4 Cases. 61
32471796 2020
5
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. 61
32462814 2020
6
Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism. 61
32327622 2020
7
[Thyroid dysfunctions secondary to cancer immunotherapy]. 61
31879018 2020
8
Update on congenital hypothyroidism. 61
31789720 2020
9
Pericardial Effusion as an Initial Presentation of Panhypopituitarism. 61
32309255 2020
10
A Remarkable Response of Granulomatous Hypophysitis to Infliximab in a Patient With a Background of Crohn's Disease-A Case Report. 61
32547497 2020
11
Myoedema in secondary hypothyroidism: an often unelicited clinical sign of hypothyroid myopathy. 61
31843773 2019
12
The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR. 61
31703413 2019
13
Thyroid function in Klinefelter syndrome: a multicentre study from KING group. 61
30912057 2019
14
The Cutoff of Ferritin for Evaluation of Hypothyroidism in Patients With Thalassemia. 61
31008807 2019
15
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17. 61
31152917 2019
16
Effectiveness of endoscopic transsphenoidal surgery for gonadotroph adenoma mimicking dementia: A case report. 61
31523603 2019
17
Severe hypoglycemia and hyponatremia caused by hypopituitarism in a female patient with type 1 diabetes: A case report. 61
31305453 2019
18
In primary care, is measuring free-thyroxine plus thyroid-stimulating hormone to detect hypopituitarism cost-effective? A cost utility analysis using Markov chain models. 61
31362968 2019
19
Hypopituitarism other than sellar and parasellar tumors or traumatic brain injury assessed in a tertiary hospital. 61
31372159 2019
20
Cardiogenic Shock Requiring Extracorporeal Membrane Oxygenation Support in a Patient with Panhypopituitarism: A Case Report. 61
31497426 2019
21
[Manifestation of Graves' disease, resulting from radiosurgical treatment of acromegaly, in a patient with panhypopituitarism]. 61
31271712 2019
22
Delayed hypopituitarism following Russell's viper envenomation: a case series and literature review. 61
30317419 2019
23
Thyroid Disorders in Homozygous β-Thalassemia: Current Knowledge, Emerging Issues and Open Problems. 61
31205633 2019
24
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING. 61
31166470 2019
25
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies. 61
31543881 2019
26
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome. 61
30984112 2019
27
Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation. 61
31316460 2019
28
Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ. 61
31914441 2019
29
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome. 61
30086211 2018
30
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives 61
30324792 2018
31
Sequential occurrence of primary and secondary hypothyroidism during treatment with nivolumab: pitfalls in immuno-oncological therapy and endocrinological diagnostic procedures. 61
30411844 2018
32
Xanthomatous hypophysitis causing hypogonadotropic hypogonadism resulting in delayed presentation of slipped capital femoral epiphysis. 61
30450996 2018
33
Dandy-Walker variant with precocious puberty: a rare association. 61
30567100 2018
34
Extrapontine Myelinolysis and Reversible Parkinsonism After Hyponatremia Correction in a Case of Pituitary Adenoma: Hypopituitarism as a Predisposition for Osmotic Demyelination. 61
30055367 2018
35
An unsuspected complication with immune checkpoint blockade: a case report. 61
30176934 2018
36
Hypothyroidism among patients with glioblastoma multiforme. 61
30886683 2018
37
[Hypothyroidism-when and how to treat?] 61
29872890 2018
38
Bilateral Keratoconus Induced by Secondary Hypothyroidism After Radioactive Iodine Therapy. 61
29738593 2018
39
[Hypothyroidism in adults in a basic health area]. 61
28863875 2018
40
THE CORRELATION BETWEEN INFLAMMATORY AND METABOLIC PARAMETERS WITH THYROID FUNCTION IN PATIENTS WITH HASHIMOTO'S THYROIDITIS: THE POTENTIAL ROLE OF INTERLEUKIN 23 (IL-23) AND VASCULAR ENDOTHELIAL GROWTH FACTOR (VEGF) - 1. 61
31149253 2018
41
Central congenital hypothyroidism caused by maternal thyrotoxicosis. 61
29572363 2018
42
Estimation of vitamin D status in patients with secondary and primary hypothyroidism of different etiology. 61
29504734 2018
43
Transient Secondary Hypothyroidism and Thyroid Hormone Replacement Therapy in Pediatric Postoperative Cardiopulmonary Bypass. 61
29485000 2018
44
Lymphocytic Hypophysitis Successfully Treated with Stereotactic Radiosurgery: Case Report and Review of the Literature. 61
28743133 2018
45
Hyperprolactinemia in Children with Subclinical Hypothyroidism. 61
28529200 2017
46
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq. 61
28419241 2017
47
[Long QT syndrome and polymorphic ventricular tachycardia due to hypopituitarism. Report of one case]. 61
29182204 2017
48
Getting to the heart of hypopituitarism. 61
28365624 2017
49
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. 61
27362444 2017
50
Congenital hypothyroidism: insights into pathogenesis and treatment. 61
29026407 2017
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Variations for Central Congenital Hypothyroidism

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Expression for Central Congenital Hypothyroidism

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Search GEO for disease gene expression data for Central Congenital Hypothyroidism.
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Pathways for Central Congenital Hypothyroidism

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GO Terms for Central Congenital Hypothyroidism

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 8.62 TSHB TRHR
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Sources for Central Congenital Hypothyroidism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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