MCID: CNT101
MIFTS: 32

Central Congenital Hypothyroidism

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

Aliases & Classifications for Central Congenital Hypothyroidism

Summaries for Central Congenital Hypothyroidism

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 226298disease definitioncentral 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.epidemiologyprevalence is unknown.clinical descriptionthe 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.etiologycentral 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. last updated: 8/10/2010

MalaCards based summary : Central Congenital Hypothyroidism, also known as secondary hypothyroidism, is related to hypothyroidism, central, and testicular enlargement and congenital hypothyroidism, and has symptoms including macroglossia, cleft palate and large fontanelles. An important gene associated with Central Congenital Hypothyroidism is TSHB (Thyroid Stimulating Hormone Beta). The drugs Sodium Pertechnetate Tc 99m and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and hypothalamus.

Related Diseases for Central Congenital Hypothyroidism

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



Diseases related to Central Congenital Hypothyroidism

Symptoms & Phenotypes for Central Congenital Hypothyroidism

Human phenotypes related to Central Congenital Hypothyroidism:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 macroglossia 32 hallmark (90%) HP:0000158
2 cleft palate 32 frequent (33%) HP:0000175
3 large fontanelles 32 hallmark (90%) HP:0000239
4 coarse facial features 32 hallmark (90%) HP:0000280
5 abnormality of the eyebrow 32 frequent (33%) HP:0000534
6 depression 32 frequent (33%) HP:0000716
7 delayed speech and language development 32 frequent (33%) HP:0000750
8 abnormality of the hypothalamus-pituitary axis 32 frequent (33%) HP:0000864
9 jaundice 32 hallmark (90%) HP:0000952
10 dry skin 32 hallmark (90%) HP:0000958
11 abnormality of the fingernails 32 hallmark (90%) HP:0001231
12 muscular hypotonia 32 hallmark (90%) HP:0001252
13 umbilical hernia 32 hallmark (90%) HP:0001537
14 hoarse cry 32 hallmark (90%) HP:0001615
15 constipation 32 hallmark (90%) HP:0002019
16 sleep disturbance 32 hallmark (90%) HP:0002360
17 abdominal distention 32 hallmark (90%) HP:0003270
18 central hypothyroidism 32 frequent (33%) HP:0011787
19 feeding difficulties 32 hallmark (90%) HP:0011968
20 fatigue 32 hallmark (90%) HP:0012378
21 septo-optic dysplasia 32 frequent (33%) HP:0100842

Drugs & Therapeutics for Central Congenital Hypothyroidism

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Sodium Pertechnetate Tc 99m Phase 1
2 Radiopharmaceuticals Phase 1
3
Testosterone Approved, Investigational 58-22-0 6013
4
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
5 glucagon
6 Estradiol valerate 979-32-8
7 beta-endorphin
8 Follicle Stimulating Hormone
9 Adrenocorticotropic Hormone
10 Glucagon-Like Peptide 1
11 Hormones
12 Estradiol 17 beta-cypionate
13 Estradiol 3-benzoate
14 Polyestradiol phosphate
15 Melanocyte-Stimulating Hormones

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4 Thyroxin, Triiodothyronine
2 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Recruiting NCT02307175 Phase 1
3 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
4 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
5 The PIT-TBI Pilot Study Active, not recruiting NCT02480985
6 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Central Congenital Hypothyroidism

Genetic Tests for Central Congenital Hypothyroidism

Genetic tests related to Central Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Secondary Hypothyroidism 29

Anatomical Context for Central Congenital Hypothyroidism

MalaCards organs/tissues related to Central Congenital Hypothyroidism:

39
Thyroid, Pituitary, Hypothalamus, Skin, Fetal Thyroid

Publications for Central Congenital Hypothyroidism

Articles related to Central Congenital Hypothyroidism:

id Title Authors Year
1
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. ( 28898885 )
2017
2
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. ( 26735259 )
2016
3
Recent advances in central congenital hypothyroidism. ( 26416826 )
2015
4
A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey. ( 25012771 )
2014
5
Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics. ( 24790365 )
2008
6
Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism. ( 15827096 )
2005
7
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. ( 14671180 )
2003

Variations for Central Congenital Hypothyroidism

ClinVar genetic disease variations for Central Congenital Hypothyroidism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TSHB NM_000549.4(TSHB): c.145G> A (p.Gly49Arg) single nucleotide variant Pathogenic rs121918668 GRCh37 Chromosome 1, 115576128: 115576128
2 TSHB NM_000549.4(TSHB): c.94G> T (p.Glu32Ter) single nucleotide variant Pathogenic rs121918669 GRCh37 Chromosome 1, 115576077: 115576077
3 TSHB TSHB, 1-BP DEL, 313T deletion Pathogenic
4 TSHB NM_000549.4(TSHB): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs121918670 GRCh37 Chromosome 1, 115576636: 115576636
5 TSHB TSHB, IVS2, G-A, +5 single nucleotide variant Pathogenic
6 TSHB NM_000549.4(TSHB): c.373delT (p.Cys125Valfs) deletion Pathogenic rs755485552 GRCh37 Chromosome 1, 115576804: 115576804

Expression for Central Congenital Hypothyroidism

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

Pathways for Central Congenital Hypothyroidism

GO Terms for Central Congenital Hypothyroidism

Sources for Central Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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