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CHNG1
MCID: HYP374
MIFTS: 64

Hypothyroidism, Congenital, Nongoitrous, 1 (CHNG1)

Categories: Bone diseases, Ear diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 1

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MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 1:

Name: Hypothyroidism, Congenital, Nongoitrous, 1 57 12 71
Tsh Resistance 57 11 73 53
Hypothyroidism Due to Tsh Receptor Mutations 58 28 5
Chng1 57 11 73
Hypothyroidism Due to Unresponsiveness to Thyrotropin 57 73
Congenital Nongoitrous Hypothyroidism 1 11 14
Thyrotropin Resistance 57 73
Rtsh 57 73
Hypothyroidism, Congenital, Due to Tsh Resistance 57
Congenital Hypothyroidism Due to Tsh Resistance 73
Hypothyroidism, Congenital, Nongoitrous, Type 1 38
Hypothyroidism, Congenital, Non-Goitrous, 1 73
Thyroid-Stimulating Hormone, Resistance to 57
Hypothyroidism, Congenital, Nongoitrous, 3 71
Thyroid-Stimulating Hormone Resistance 73
Thyroid Hormone Resistance Syndrome 71
Hypothyroidism, Nonautoimmune 57
Non-Autoimmune Hypothyroidism 73
Thyroid-Stimulating Hormone 57

Characteristics:


Inheritance:

Hypothyroidism, Congenital, Nongoitrous, 1: Autosomal recessive 57
Hypothyroidism Due to Tsh Receptor Mutations: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Hypothyroidism Due to Tsh Receptor Mutations: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
most patients are asymptomatic and are detected by newborn screening
variable severity ranging from asymptomatic euthyroid to severe hypothyroidism


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Neuronal diseases Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0070126
OMIM® 57 275200
OMIM Phenotypic Series 57 PS275200
MeSH 43 D003409
ICD10 31 E03.1
ICD10 via Orphanet 32 E03.1
Orphanet 58 ORPHA90673
UMLS 71 C2940785 C2940786 C3493776
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Summaries for Hypothyroidism, Congenital, Nongoitrous, 1

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UniProtKB/Swiss-Prot: 73 A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.

MalaCards based summary: Hypothyroidism, Congenital, Nongoitrous, 1, also known as tsh resistance, is related to hyperthyroidism, nonautoimmune and familial hyperthyroidism due to mutations in tsh receptor. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 1 is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Methimazole and Antithyroid Agents have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and bone marrow, and related phenotypes are impaired sensitivity to thyroid stimulating hormone and congenital hypothyroidism

OMIM®: 57 Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). (275200) (Updated 08-Dec-2022)

Orphanet: 58 A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Disease Ontology: 11 A congenital hypothyroidism that has material basis in mutation in the TSHR gene on chromosome 14q31.
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Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 1

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Diseases in the Hypothyroidism, Congenital, Nongoitrous, 1 family:

Hypothyroidism, Congenital, Nongoitrous, 2 Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital, Nongoitrous, 4 Hypothyroidism, Congenital, Nongoitrous, 8
Hypothyroidism, Congenital, Nongoitrous, 9 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6 Hypothyroidism, Congenital, Nongoitrous, 7

Diseases related to Hypothyroidism, Congenital, Nongoitrous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 520)
# Related Disease Score Top Affiliating Genes
1 hyperthyroidism, nonautoimmune 32.9 TSHR CEP128
2 familial hyperthyroidism due to mutations in tsh receptor 32.8 TSHR CEP128
3 hypothyroidism, congenital, nongoitrous, 4 32.7 TSHB TG
4 thyroid hormone resistance, generalized, autosomal dominant 32.2 TSHR TSHB TG
5 graves disease 1 32.0 TSHR TG PTH
6 thyroid hormone resistance, selective pituitary 31.9 TSHB TG
7 hypothyroidism, congenital, nongoitrous, 2 31.8 TSHR TG PAX8 FOXE1
8 hyperthyroidism 31.7 TSHR TG PTH GNAS
9 pseudohypoparathyroidism, type ib 31.6 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
10 graves' disease 31.3 TSHR TG PAX8 GNAS
11 thyroiditis 31.3 TSHR TSHB TG
12 pituitary adenoma 31.1 TSHB PRKAR1A GNAS GHRH
13 hyperprolactinemia 31.0 PTH GNAS GHRH
14 nodular goiter 31.0 TSHR TG PTH
15 graves ophthalmopathy 31.0 TSHR TG
16 nontoxic goiter 31.0 TSHR TG PTH
17 functioning pituitary adenoma 30.9 TSHB PRKAR1A GNAS GHRH
18 goiter 30.7 TSHR TG PAX8 IYD GNAS DUOXA2
19 thyroid cancer, nonmedullary, 2 30.7 TSHR TG PAX8
20 pituitary gland disease 30.6 TSHB PRKAR1A GNAS GHRH
21 adenoma 30.5 TSHR TSHB TG PTH PRKAR1A GNAS
22 subacute thyroiditis 30.5 TSHR TG
23 myxedema 30.5 TSHR TSHB TG
24 neonatal thyrotoxicosis 30.5 TSHR TG
25 papillary carcinoma 30.5 TSHR TG PAX8 GNAS
26 thyroid gland follicular carcinoma 30.5 TSHR TG PAX8 FOXE1
27 hypoparathyroidism 30.4 PTH PRKAR1A GNAS
28 postsurgical hypothyroidism 30.4 TSHR TG PTH
29 pseudohypoparathyroidism, type ia 30.3 STX16 PTH PRKAR1A PLPPR3 PDE4D PDE3A
30 conn's syndrome 30.3 PTH PRKAR1A GNAS GHRH
31 thyroid crisis 30.3 TSHR TG
32 plummer's disease 30.2 TSHR TG PTH
33 follicular adenoma 30.2 TSHR TG PAX8 GNAS
34 athyreosis 30.1 TSHR PAX8 FOXE1
35 multinodular goiter 30.1 TSHR TG PTH PAX8 GNAS FOXE1
36 hypothalamic disease 30.1 TSHB GHRH
37 multiple endocrine neoplasia, type i 30.0 PTH PRKAR1A GNAS GHRH
38 familial thyroid dyshormonogenesis 29.9 TG IYD DUOXA2
39 thyroid gland medullary carcinoma 29.9 TG PTH PAX8
40 thyroid gland anaplastic carcinoma 29.8 TSHR TG PAX8 FOXE1
41 hypothyroidism 29.8 TSHR TSHB TG PAX8 IYD GNAS
42 thyroid gland cancer 29.8 TSHR TG PTH PAX8 FOXE1
43 pseudohypoparathyroidism 29.5 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
44 endemic goiter 29.2 TSHR TSHB TG PTH PAX8 IYD
45 congenital hypothyroidism 29.0 TSHR TSHB TG STX16 PTH PAX8
46 pseudopseudohypoparathyroidism 28.4 STX16 PTH PRKAR1A PLPPR3 PDE4D PDE3A
47 osseous heteroplasia, progressive 28.3 STX16 PTH PRKAR1A PLPPR3 PDE4D PDE3A
48 thyroid-stimulating hormone level quantitative trait locus 1 11.7
49 tsh producing pituitary tumor 11.5
50 central congenital hypothyroidism 11.4

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous, 1:



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 1
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Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 1

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Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 1:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired sensitivity to thyroid stimulating hormone 58 30 Obligate (100%) Obligate (100%)
 HP:0011789
2 congenital hypothyroidism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000851
3 elevated circulating thyroid-stimulating hormone concentration 30 Hallmark (90%) HP:0002925
4 prolonged neonatal jaundice 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006579
5 increased circulating thyroglobulin level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025484
6 reduced radioactive iodine uptake 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031219
7 decreased circulating t4 concentration 30 Frequent (33%) HP:0031507
8 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002019
9 macroglossia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000158
10 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001537
11 feeding difficulties in infancy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008872
12 hyporeflexia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001265
13 lethargy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001254
14 thyroid hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005990
15 large posterior fontanelle 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004491
16 neonatal hyperbilirubinemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003265
17 bradycardia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001662
18 delayed proximal femoral epiphyseal ossification 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008828
19 compensated hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008223
20 increased radioactive iodine uptake 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031220
21 abnormal cry 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0025429
22 hypothermia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002045
23 hypotonia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001252
24 edema 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000969
25 abnormality of epiphysis morphology 58 Occasional (29-5%)
26 goiter 58 Excluded (0%)
27 increased thyroid-stimulating hormone level 58 Very frequent (99-80%)
28 autoimmune antibody positivity 58 Excluded (0%)
29 decreased circulating thyroxine level 58 Frequent (79-30%)
30 maternal autoimmune disease 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
hypothyroidism (in some patients)
euthyroidism
normal sized thyroid gland
no goiter
hypoplastic thyroid gland (in some patients)

Laboratory Abnormalities:
increased serum thyroid-stimulating hormone (tsh)
normal or mildly decreased serum levels of free thyroid hormones

Immunology:
absence of anti-thyroid antibodies

Clinical features from OMIM®:

275200 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 DUOXA2 FOXE1 GHRH GLIS3 GNAS GNAS-AS1
2 growth/size/body region MP:0005378 10.13 DUOXA2 FOXE1 GHRH GLIS3 GNA15 GNAS
3 limbs/digits/tail MP:0005371 9.91 DUOXA2 GNAS PAX8 PRKAR1A PTH TG
4 endocrine/exocrine gland MP:0005379 9.85 FOXE1 GHRH GLIS3 GNA15 GNAS PAX8
5 reproductive system MP:0005389 9.65 CEP128 GHRH GNA15 PAX8 PDE3A PDE4D
6 skeleton MP:0005390 9.28 DUOXA2 GHRH GNAS PAX8 PRKAR1A PTH
Sources

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 1

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Drugs for Hypothyroidism, Congenital, Nongoitrous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methimazole Approved Phase 4 60-56-0 1349907
2 Antithyroid Agents Phase 4
3
Iodine Approved, Investigational Phase 3 7553-56-2 807
4
Cadexomer iodine Experimental Phase 3 94820-09-4
5 Hormone Antagonists Phase 1, Phase 2
6 Pharmaceutical Solutions Phase 1, Phase 2
7
Metformin Approved 1115-70-4, 657-24-9 4091
8
Selenium Approved, Investigational, Vet_approved 7783-07-5, 7782-49-2 533
9 Hypoglycemic Agents
10 Hormones
11 Flax
12 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Cardiopulmonary Capacity In Different Quartiles Ranges Of Reference For Serum Thyroid Stimulating Hormone (TSH): Sectional Evaluation And Effect Of The Use Of Methimazole In Elderly Population Unknown status NCT01849861 Phase 4 Methimazole
2 Multicentre Randomised Trial of High Dose Versus Low Dose Radioiodine, With or Without Recombinant Human Thyroid Stimulating Hormone, for Remnant Ablation Following Surgery for Differentiated Thyroid Cancer [HILO] Active, not recruiting NCT00415233 Phase 3
3 Utility of Recombinant Human Thyrotropin (rTSH) PET-CT Fusion Scanning to Identify Residual Well-differentiated Epithelial Thyroid Cancer Completed NCT00181168 Phase 2 Euthyroid Group
4 Study to Evaluate the Dose, Safety and Effectiveness of Modified-Release Recombinant Human Thyroid Stimulating Hormone (MRrhTSH) When Used in Conjunction With Radioiodine for the Treatment of Multinodular Goiter. Completed NCT00454220 Phase 2 MRrhTSH
5 Phase I/II Clinical Trial of Dose-tolerance, Pharmacokinetics and Iodine Uptake For Recombinant Human Thyroid Stimulating Hormone In Post-thyroidectomized Patients Completed NCT04137185 Phase 1, Phase 2 Recombinant Human Thyroid Stimulating Hormone for Injection
6 Phase I Study Comparing Pharmacokinetics and Safety Profile of Thyrogen Versus a Modified Release of Recombinant Human Thyroid Stimulating Hormone Completed NCT00137891 Phase 1 Modified Release rhTSH
7 Effects of Thyroid Hormone Withdrawal and Recombinant Human Thyroid Stimulating Hormone in Glomerular Filtration Rate During Radioiodine Therapy Completed NCT01945125
8 The Comparison Between Free Thyroxine and Thyroid Stimulating Hormone Levels on Melasma Severity: A Cross Sectional Study Completed NCT04359719
9 Thyroid Stimulating Hormone (TSH) Level Variations in Early Pregnancy and Feto-maternal Outcome; Retrospective Study. Completed NCT04565873
10 Establishing Reference Intervals for Thyroid Stimulating Hormone in Children Under the Age of Two Years Completed NCT04877665
11 Effect of Metformin on Decrement in Levothyroxin Dose Required for Thyroid Stimulating Hormone (TSH) Suppression in Patients With Differentiated Thyroid Cancer Completed NCT01341886 Metformin
12 Harmonization of Thyroid-stimulating Hormone Immunoassays Reagents - Blood Collection From Patients With Thyroid Disorders Recruiting NCT05151120
13 Dietary Intervention With Únicla Dairy Products, Naturally Enriched With Selenium and Omega-3 Fatty Acids, May Improve Thyroid-stimulating Hormone (TSH) Levels in Women With Subclinical Hypothyroidism Not yet recruiting NCT05019118

Search NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 1

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Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 1

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Genetic tests related to Hypothyroidism, Congenital, Nongoitrous, 1:

# Genetic test Affiliating Genes
1 Hypothyroidism Due to Tsh Receptor Mutations 28 TSHR
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Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 1

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Organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 1:

MalaCards : Thyroid, Pituitary, Bone Marrow, Ovary, Lymph Node, Bone, Brain
ODiseA: Thyroid
Sources

Publications for Hypothyroidism, Congenital, Nongoitrous, 1

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Articles related to Hypothyroidism, Congenital, Nongoitrous, 1:

(show top 50) (show all 15212)
# Title Authors PMID Year
1
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. 62 57 5
9100579 1997
2
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. 57 5
9329388 1997
3
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. 57 5
9185526 1997
4
Four families with loss of function mutations of the thyrotropin receptor. 57 5
8954020 1996
5
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. 57 5
7528344 1995
6
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. 62 5
21707688 2011
7
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. 62 5
21677043 2011
8
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. 62 5
14725684 2004
9
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. 62 5
12050212 2002
10
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. 62 5
11442002 2001
11
A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. 62 5
11095460 2000
12
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. 62 57
9398691 1997
13
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. 62 57
9048917 1997
14
A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. 62 5
8964822 1996
15
Inherited primary hypothyroidism in mice. 62 57
7209519 1981
16
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. 5
27637299 2016
17
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. 5
27255745 2016
18
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. 5
23404215 2013
19
R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. 5
22405933 2012
20
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 5
22876533 2012
21
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. 57
21981779 2011
22
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. 5
21714469 2010
23
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. 5
20718767 2010
24
Morphological abnormalities in children with thyroidal congenital hypothyroidism. 57
19367618 2009
25
Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. 5
19506388 2009
26
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. 57
17717707 2007
27
Genetics of congenital hypothyroidism. 57
15863666 2005
28
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. 5
15693879 2005
29
Thyroid development and its disorders: genetics and molecular mechanisms. 57
15466939 2004
30
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. 5
12629076 2003
31
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. 5
10720030 2000
32
The thyrotropin receptor in thyroid diseases. 57
9385128 1997
33
Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. 57
8170469 1994
34
Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. 57
7833660 1994
35
Familial unresponsiveness to thyrotropin by autosomal recessive inheritance. 57
8263143 1993
36
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. 57
3934357 1985
37
Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations. 57
6246137 1980
38
Imparied cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency. 57
227208 1979
39
Thyroid dysfunction in pseudohypoparathyroidism. 57
4331064 1971
40
Congenital hypothyroidism with impaired thyroid response to thyrotropin. 57
4176719 1968
41
Genetics and phenomics of hypothyroidism due to TSH resistance. 53 62
20083154 2010
42
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. 53 62
19820021 2009
43
Technology Insight: modern methods to monitor protein-protein interactions reveal functional TSH receptor oligomerization. 53 62
17237844 2007
44
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. 53 62
16135555 2005
45
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. 53 62
16060907 2005
46
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. 53 62
12970307 2003
47
[From gene to disease; thyroid stimulating hormone receptor, hyperthyroidism and hypothyroidism]. 53 62
11379397 2001
48
Association between serum levels of TSH and free T4 and per- and polyfluoroalkyl compounds concentrations in pregnant women. 62
36182121 2023
49
Exploring the endocrine disrupting potential of lead through benchmark modelling - Study in humans. 62
36244500 2023
50
Triclosan in paired-maternal and cord blood, and their relationships with congenital heart disease of baby. 62
36202352 2023
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Variations for Hypothyroidism, Congenital, Nongoitrous, 1

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ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 1:

5 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSHR NM_000369.5(TSHR):c.500T>A (p.Ile167Asn) SNV Pathogenic
 6434 rs121908862 GRCh37: 14:81558907-81558907
GRCh38: 14:81092563-81092563
2 TSHR NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg) SNV Pathogenic
 6458 rs121908884 GRCh37: 14:81610200-81610200
GRCh38: 14:81143856-81143856
3 TSHR NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro) SNV Pathogenic
 6459 rs121908885 GRCh37: 14:81609802-81609802
GRCh38: 14:81143458-81143458
4 TSHR NM_000369.5(TSHR):c.545+3G>C SNV Pathogenic
 6461 rs786205080 GRCh37: 14:81558955-81558955
GRCh38: 14:81092611-81092611
5 TSHR NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) SNV Pathogenic
 6456 rs121908882 GRCh37: 14:81609330-81609330
GRCh38: 14:81142986-81142986
6 TSHR NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile) SNV Pathogenic
 6455 rs121908881 GRCh37: 14:81609832-81609832
GRCh38: 14:81143488-81143488
7 TSHR NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) SNV Pathogenic
 6444 rs121908871 GRCh37: 14:81609572-81609572
GRCh38: 14:81143228-81143228
8 TSHR NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu) SNV Pathogenic
 6443 rs121908870 GRCh37: 14:81609977-81609977
GRCh38: 14:81143633-81143633
9 CEP128, TSHR NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) SNV Pathogenic
 6442 rs121908869 GRCh37: 14:81422146-81422146
GRCh38: 14:80955802-80955802
10 TSHR NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn) SNV Pathogenic
 6441 rs121908868 GRCh37: 14:81609630-81609630
GRCh38: 14:81143286-81143286
11 TSHR NM_000369.5(TSHR):c.970C>T (p.Gln324Ter) SNV Pathogenic
 6440 rs121908867 GRCh37: 14:81609372-81609372
GRCh38: 14:81143028-81143028
12 TSHR NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) SNV Pathogenic
 6438 rs121908865 GRCh37: 14:81554306-81554306
GRCh38: 14:81087962-81087962
13 TSHR NM_000369.5(TSHR):c.545+5G>T SNV Pathogenic
 917858 rs1888838395 GRCh37: 14:81558957-81558957
GRCh38: 14:81092613-81092613
14 TSHR NM_000369.5(TSHR):c.1217_1234delinsCACG (p.Asn406fs) INDEL Pathogenic
 6447 GRCh37: 14:81609619-81609636
GRCh38: 14:81143275-81143292
15 TSHR NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) SNV Pathogenic
 6439 rs121908866 GRCh37: 14:81610039-81610039
GRCh38: 14:81143695-81143695
16 TSHR NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) DEL Pathogenic
 1204435 GRCh37: 14:81610364-81610365
GRCh38: 14:81144020-81144021
17 TSHR NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) SNV Pathogenic
 6435 rs121908863 GRCh37: 14:81558891-81558891
GRCh38: 14:81092547-81092547
18 TSHR NM_000369.5(TSHR):c.1349G>A (p.Arg450His) SNV Pathogenic
 225505 rs189261858 GRCh37: 14:81609751-81609751
GRCh38: 14:81143407-81143407
19 TSHR NM_000369.5(TSHR):c.1777del (p.Ala593fs) DEL Likely Pathogenic
 1687384 GRCh37: 14:81610179-81610179
GRCh38: 14:81143835-81143835
20 TSHR NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) SNV Likely Pathogenic
 6445 rs121908872 GRCh37: 14:81610059-81610059
GRCh38: 14:81143715-81143715
21 TSHR NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe) SNV Likely Pathogenic
 917861 rs767239688 GRCh37: 14:81610362-81610362
GRCh38: 14:81144018-81144018
22 TSHR NM_000369.5(TSHR):c.545+2_545+3del MICROSAT Likely Pathogenic
 189249 rs786204790 GRCh37: 14:81558952-81558953
GRCh38: 14:81092608-81092609
23 TSHR NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) SNV Conflicting Interpretations Of Pathogenicity
 437071 rs142063461 GRCh37: 14:81528523-81528523
GRCh38: 14:81062179-81062179
24 TSHR NM_000369.5(TSHR):c.735C>G (p.Gly245=) SNV Uncertain Significance
 706506 rs146738314 GRCh37: 14:81606065-81606065
GRCh38: 14:81139721-81139721
25 TSHR NM_000369.5(TSHR):c.765A>G (p.Arg255=) SNV Uncertain Significance
 726776 rs777128238 GRCh37: 14:81606095-81606095
GRCh38: 14:81139751-81139751
26 TSHR NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) SNV Uncertain Significance
 135394 rs150602845 GRCh37: 14:81610002-81610002
GRCh38: 14:81143658-81143658
27 TSHR NM_000369.5(TSHR):c.929G>A (p.Arg310His) SNV Uncertain Significance
 135401 rs139286618 GRCh37: 14:81609331-81609331
GRCh38: 14:81142987-81142987
28 TSHR NM_000369.5(TSHR):c.1206C>T (p.Ser402=) SNV Uncertain Significance
 745091 rs150524100 GRCh37: 14:81609608-81609608
GRCh38: 14:81143264-81143264
29 TSHR, CEP128 NM_000369.2(TSHR):c.-166C>T SNV Uncertain Significance
 885227 rs1180169266 GRCh37: 14:81421859-81421859
GRCh38: 14:80955515-80955515
30 TSHR, CEP128 NM_000369.2(TSHR):c.-102C>T SNV Uncertain Significance
 885228 rs1886616129 GRCh37: 14:81421923-81421923
GRCh38: 14:80955579-80955579
31 TSHR NM_000369.5(TSHR):c.881+3A>G SNV Uncertain Significance
 218440 rs186091357 GRCh37: 14:81606214-81606214
GRCh38: 14:81139870-81139870
32 TSHR NM_000369.5(TSHR):c.1290G>A (p.Leu430=) SNV Uncertain Significance
 314697 rs375393735 GRCh37: 14:81609692-81609692
GRCh38: 14:81143348-81143348
33 TSHR NM_000369.5(TSHR):c.*400T>C SNV Uncertain Significance
 314707 rs143040631 GRCh37: 14:81611097-81611097
GRCh38: 14:81144753-81144753
34 TSHR NM_000369.5(TSHR):c.*182G>T SNV Uncertain Significance
 314704 rs373305430 GRCh37: 14:81610879-81610879
GRCh38: 14:81144535-81144535
35 TPO NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) SNV Uncertain Significance
 331310 rs148683218 GRCh37: 2:1459885-1459885
GRCh38: 2:1456113-1456113
36 TSHR NM_000369.5(TSHR):c.1556G>A (p.Arg519His) SNV Uncertain Significance
 886255 rs780018604 GRCh37: 14:81609958-81609958
GRCh38: 14:81143614-81143614
37 CEP128, TSHR NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) SNV Uncertain Significance
 886125 rs45499704 GRCh37: 14:81422124-81422124
GRCh38: 14:80955780-80955780
38 TSHR NM_000369.5(TSHR):c.357T>A (p.Pro119=) SNV Uncertain Significance
 314692 rs144084915 GRCh37: 14:81554337-81554337
GRCh38: 14:81087993-81087993
39 TSHR NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) SNV Uncertain Significance
 135399 rs61745409 GRCh37: 14:81610563-81610563
GRCh38: 14:81144219-81144219
40 TSHR NM_000369.5(TSHR):c.*1317C>A SNV Uncertain Significance
 314718 rs886050859 GRCh37: 14:81612014-81612014
GRCh38: 14:81145670-81145670
41 TSHR NM_000369.5(TSHR):c.692+3G>A SNV Uncertain Significance
 314695 rs552128204 GRCh37: 14:81574799-81574799
GRCh38: 14:81108455-81108455
42 TSHR NM_000369.5(TSHR):c.*1580A>G SNV Uncertain Significance
 314720 rs189084497 GRCh37: 14:81612277-81612277
GRCh38: 14:81145933-81145933
43 TSHR NM_000369.5(TSHR):c.*116G>A SNV Uncertain Significance
 314700 rs554104473 GRCh37: 14:81610813-81610813
GRCh38: 14:81144469-81144469
44 CEP128, TSHR NM_000369.5(TSHR):c.-60G>A SNV Uncertain Significance
 314689 rs201252762 GRCh37: 14:81421965-81421965
GRCh38: 14:80955621-80955621
45 CEP128, TSHR NM_000369.5(TSHR):c.157A>C (p.Ser53Arg) SNV Uncertain Significance
 314690 rs886050853 GRCh37: 14:81422181-81422181
GRCh38: 14:80955837-80955837
46 TSHR NM_000369.5(TSHR):c.*1106G>T SNV Uncertain Significance
 314713 rs150923034 GRCh37: 14:81611803-81611803
GRCh38: 14:81145459-81145459
47 TSHR NM_000369.5(TSHR):c.*1946C>T SNV Uncertain Significance
 314726 rs187891791 GRCh37: 14:81612643-81612643
GRCh38: 14:81146299-81146299
48 TSHR NM_000369.5(TSHR):c.615-6C>G SNV Uncertain Significance
 314694 rs886050854 GRCh37: 14:81574713-81574713
GRCh38: 14:81108369-81108369
49 TSHR NM_000369.5(TSHR):c.*319G>A SNV Uncertain Significance
 314706 rs886050857 GRCh37: 14:81611016-81611016
GRCh38: 14:81144672-81144672
50 TSHR NM_000369.5(TSHR):c.*728A>G SNV Uncertain Significance
 314710 rs73342245 GRCh37: 14:81611425-81611425
GRCh38: 14:81145081-81145081

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 1:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 TSHR p.Cys41Ser VAR_011519
2 TSHR p.Arg109Gln VAR_011520
3 TSHR p.Pro162Ala VAR_011521 rs121908863
4 TSHR p.Ile167Asn VAR_011522
5 TSHR p.Arg310Cys VAR_011524
6 TSHR p.Cys390Trp VAR_011525
7 TSHR p.Asp410Asn VAR_011526
8 TSHR p.Arg450His VAR_011528
9 TSHR p.Gly498Ser VAR_011533
10 TSHR p.Phe525Leu VAR_011537
11 TSHR p.Ala553Thr VAR_011538
12 TSHR p.Leu467Pro VAR_017295
13 TSHR p.Thr477Ile VAR_017296
14 TSHR p.Cys600Arg VAR_017297
15 TSHR p.Leu252Pro VAR_021495
16 TSHR p.Asn432Asp VAR_075585
17 TSHR p.Pro449Leu VAR_075586

Sources

Expression for Hypothyroidism, Congenital, Nongoitrous, 1

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Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 1.
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Pathways for Hypothyroidism, Congenital, Nongoitrous, 1

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Pathways related to Hypothyroidism, Congenital, Nongoitrous, 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.48 GHRH GNA15 GNAS PDE3A PDE4D PLPPR3
2
GPCR downstream signalling 66
Show member pathways
 13.13 TSHR TSHB PTH PRKAR1A PLPPR3 PDE4D
3
Sweet Taste Signaling 64
Show member pathways
 12.83 PRKAR1A PDE4D PDE3A GNAS GNA15
4
G-Beta Gamma Signaling 64
Show member pathways
 12.41 PRKAR1A GNAS GNA15 GHRH
5
Beta-2 adrenergic-dependent CFTR expression 22
Show member pathways
 12.35 PRKAR1A PDE4D PDE3A GNAS
6
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.56 PRKAR1A PDE4D GNAS
7
Signal transduction_PKA signaling 22
11.56 PRKAR1A PDE4D PDE3A GNAS
8
Thyroid hormones production and peripheral downstream signaling effects 74
11.48 TSHR TSHB IYD DUOXA2
9
G-protein signaling_RhoA regulation pathway 22
11.47 PRKAR1A GNAS GNA15 GHRH
10
G alpha (s) signalling events 66
Show member pathways
 11.43 TSHR TSHB PTH PRKAR1A PDE4D PDE3A
11
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.17 PTH PRKAR1A GNAS
12
Thyroid stimulating hormone (TSH) signaling pathway 74
11.02 TSHR TSHB PDE4D GNAS
13
Transcription_CREM signaling in testis 22
10.9 PRKAR1A GNAS
14
Thyroxine (thyroid hormone) production 74
10.81 TSHR TG
15
Hormone ligand-binding receptors 66
10.54 TSHR TSHB
Sources

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 1

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Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.86 TSHR PTH GNAS GHRH
2 negative regulation of cAMP-mediated signaling GO:0043951 9.67 PDE4D PDE3A
3 thyroid hormone metabolic process GO:0042403 9.5 TG IYD
4 thyroid gland development GO:0030878 9.43 TG PAX8 FOXE1
5 response to parathyroid hormone GO:0071107 9.33 PTH GNAS
6 thyroid-stimulating hormone signaling pathway GO:0038194 8.92 TSHR PAX8

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 9.62 PTH GHRH
2 hormone activity GO:0005179 9.5 TSHB TG PTH GHRH
3 beta-2 adrenergic receptor binding GO:0031698 9.46 PDE4D GNAS
4 guanyl nucleotide binding GO:0019001 9.26 GNAS GNA15
5 thyroid-stimulating hormone receptor activity GO:0004996 8.92 TSHR PAX8
Sources

Sources for Hypothyroidism, Congenital, Nongoitrous, 1

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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