CHNG1
MCID: HYP374
MIFTS: 48

Hypothyroidism, Congenital, Nongoitrous, 1 (CHNG1)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 1

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

Name: Hypothyroidism, Congenital, Nongoitrous, 1 58 30 6 74
Tsh Resistance 58 12 76 56
Chng1 58 12 76
Hypothyroidism Due to Unresponsiveness to Thyrotropin 58 76
Congenital Nongoitrous Hypothyroidism 1 12 15
Thyrotropin Resistance 58 76
Rtsh 58 76
Hypothyroidism, Congenital, Due to Tsh Resistance 58
Congenital Hypothyroidism Due to Tsh Resistance 76
Hypothyroidism Due to Tsh Receptor Mutations 60
Hypothyroidism, Congenital, Non-Goitrous, 1 76
Thyroid-Stimulating Hormone, Resistance to 58
Hypothyroidism, Congenital, Nongoitrous, 3 74
Thyroid-Stimulating Hormone Resistance 76
Thyroid Hormone Resistance Syndrome 74
Thyroid-Stimulating Hormone ; Rtsh 58
Hypothyroidism, Nonautoimmune 58
Non-Autoimmune Hypothyroidism 76

Characteristics:

Orphanet epidemiological data:

60
hypothyroidism due to tsh receptor mutations
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
most patients are asymptomatic and are detected by newborn screening
variable severity ranging from asymptomatic euthyroid to severe hypothyroidism


HPO:

33
hypothyroidism, congenital, nongoitrous, 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Hypothyroidism, Congenital, Nongoitrous, 1

UniProtKB/Swiss-Prot : 76 Hypothyroidism, congenital, non-goitrous, 1: 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 pseudohypoparathyroidism, type ib. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 1 is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are cAMP signaling pathway and Parathyroid hormone synthesis, secretion and action. The drugs Guaifenesin and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid and skin, and related phenotypes are hypothyroidism and muscular hypotonia

Disease Ontology : 12 A congenital hypothyroidism that has material basis in mutation in the TSHR gene on chromosome 14q31.

OMIM : 58 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)

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 1

Diseases in the Hypothyroidism, Congenital, Nongoitrous, 2 family:

Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1 Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 6

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 hyperthyroidism, nonautoimmune 32.5 CEP128 TSHR
2 pseudohypoparathyroidism, type ib 31.3 GNAS PTH STX16
3 pseudohypoparathyroidism 29.0 GNAS PTH STX16
4 hypothyroidism, congenital, nongoitrous, 2 11.4
5 hypothyroidism, congenital, nongoitrous, 3 11.4
6 renal tubular acidosis 10.1
7 nephrotic syndrome 10.1
8 renal tubular acidosis, distal 10.1
9 endemic goiter 10.0 PTH TSHR
10 hyperthyroidism 10.0 GNAS TSHR
11 goiter 10.0 GNAS TSHR
12 thyroid gland disease 10.0 PTH TSHR
13 multinodular goiter 9.9 GNAS TSHR
14 leptin deficiency or dysfunction 9.9
15 osteitis fibrosa 9.9 GNAS PTH
16 connective tissue benign neoplasm 9.9 GNAS PTH
17 heart disease 9.9
18 hypocalcemia, autosomal dominant 1 9.9 GNAS PTH
19 cell type benign neoplasm 9.9 GNAS PTH
20 congenital hypothyroidism 9.8 GNAS TSHR
21 multiple endocrine neoplasia, type i 9.8 GNAS PTH
22 hypothyroidism 9.8
23 graves' disease 9.8 GNAS TSHR
24 albright's hereditary osteodystrophy 9.7 GNAS STX16
25 adenoma 9.7 GNAS TSHR
26 pseudopseudohypoparathyroidism 9.5 GNAS PTH STX16
27 phosphorus metabolism disease 9.5 GNAS PTH STX16
28 metal metabolism disorder 9.5 GNAS PTH STX16
29 hyperphosphatemia 9.5 GNAS PTH STX16

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



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 1

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 1

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

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
4 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002360
5 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
6 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
7 hoarse cry 60 33 hallmark (90%) Very frequent (99-80%) HP:0001615
8 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
9 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
10 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
11 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
12 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
13 thyroid hypoplasia 33 HP:0005990
14 congenital hypothyroidism 33 HP:0000851
15 increased thyroid-stimulating hormone level 33 HP:0002925

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
euthyroidism
normal sized thyroid gland
no goiter
hypothyroidism in subset of patients
patients with hypothyroidism have hypoplastic thyroid gland

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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 GNAS PTH TSHR
2 skeleton MP:0005390 8.92 GNAS PTH STX16 TSHR

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 1

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
2
Pseudoephedrine Approved Phase 2 90-82-4 7028
3
Ephedrine Approved Phase 2 299-42-3 9294
4 Adrenergic alpha-Agonists Phase 2
5 Appetite Depressants Phase 2
6 Hormones Phase 2
7 Respiratory System Agents Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Anti-Obesity Agents Phase 2
10 Nasal Decongestants Phase 2
11 Expectorants Phase 2
12 Hormone Antagonists Phase 2
13 Adrenergic Agonists Phase 2
14 Adrenergic Agents Phase 2
15 Sympathomimetics Phase 2
16
Chlorpheniramine Phase 2 113-92-8, 132-22-9 2725
17 Vasoconstrictor Agents Phase 2
18 Autonomic Agents Phase 2
19 Neurotransmitter Agents Phase 2
20 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thyroid Hormone Analog Therapy in MCT8 Deficiency: Triac Trial Patients Completed NCT02060474 Phase 2 Triac
2 TSH Receptor Mutations Among a Consanguineous Community Completed NCT00747760
3 Evaluation of Patients With Thyroid Disorders Recruiting NCT00001159
4 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

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

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 1

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

# Genetic test Affiliating Genes
1 Hypothyroidism, Congenital, Nongoitrous, 1 30 TSHR

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 1

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 1:

42
Thyroid, Skin

Publications for Hypothyroidism, Congenital, Nongoitrous, 1

Articles related to Hypothyroidism, Congenital, Nongoitrous, 1:

(show all 18)
# Title Authors Year
1
Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. ( 30083029 )
2018
2
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood. ( 28561265 )
2017
3
TSH resistance revisited. ( 25797365 )
2015
4
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. ( 21677043 )
2011
5
Genetics and phenomics of hypothyroidism due to TSH resistance. ( 20083154 )
2010
6
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. ( 16060907 )
2005
7
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. ( 16135555 )
2005
8
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. ( 12629076 )
2003
9
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. ( 12147228 )
2002
10
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. ( 12050212 )
2002
11
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. ( 10720030 )
2000
12
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. ( 11095460 )
2000
13
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? ( 9589691 )
1998
14
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. ( 9185526 )
1997
15
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. ( 9329388 )
1997
16
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. ( 9100579 )
1997
17
A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. ( 8964822 )
1996
18
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. ( 7528344 )
1995

Variations for Hypothyroidism, Congenital, Nongoitrous, 1

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

76 (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

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

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSHR NM_000369.2(TSHR): c.500T> A (p.Ile167Asn) single nucleotide variant Pathogenic rs121908862 GRCh37 Chromosome 14, 81558907: 81558907
2 TSHR NM_000369.2(TSHR): c.500T> A (p.Ile167Asn) single nucleotide variant Pathogenic rs121908862 GRCh38 Chromosome 14, 81092563: 81092563
3 TSHR NM_000369.2(TSHR): c.484C> G (p.Pro162Ala) single nucleotide variant Pathogenic rs121908863 GRCh37 Chromosome 14, 81558891: 81558891
4 TSHR NM_000369.2(TSHR): c.484C> G (p.Pro162Ala) single nucleotide variant Pathogenic rs121908863 GRCh38 Chromosome 14, 81092547: 81092547
5 TSHR NM_000369.2(TSHR): c.326G> A (p.Arg109Gln) single nucleotide variant Pathogenic rs121908865 GRCh37 Chromosome 14, 81554306: 81554306
6 TSHR NM_000369.2(TSHR): c.326G> A (p.Arg109Gln) single nucleotide variant Pathogenic rs121908865 GRCh38 Chromosome 14, 81087962: 81087962
7 TSHR NM_000369.2(TSHR): c.1637G> A (p.Trp546Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121908866 GRCh37 Chromosome 14, 81610039: 81610039
8 TSHR NM_000369.2(TSHR): c.1637G> A (p.Trp546Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121908866 GRCh38 Chromosome 14, 81143695: 81143695
9 TSHR NM_000369.2(TSHR): c.970C> T (p.Gln324Ter) single nucleotide variant Pathogenic rs121908867 GRCh37 Chromosome 14, 81609372: 81609372
10 TSHR NM_000369.2(TSHR): c.970C> T (p.Gln324Ter) single nucleotide variant Pathogenic rs121908867 GRCh38 Chromosome 14, 81143028: 81143028
11 TSHR NM_000369.2(TSHR): c.1228G> A (p.Asp410Asn) single nucleotide variant Pathogenic rs121908868 GRCh37 Chromosome 14, 81609630: 81609630
12 TSHR NM_000369.2(TSHR): c.1228G> A (p.Asp410Asn) single nucleotide variant Pathogenic rs121908868 GRCh38 Chromosome 14, 81143286: 81143286
13 TSHR NM_000369.2(TSHR): c.122G> C (p.Cys41Ser) single nucleotide variant Pathogenic rs121908869 GRCh37 Chromosome 14, 81422146: 81422146
14 TSHR NM_000369.2(TSHR): c.122G> C (p.Cys41Ser) single nucleotide variant Pathogenic rs121908869 GRCh38 Chromosome 14, 80955802: 80955802
15 TSHR NM_000369.2(TSHR): c.1575C> A (p.Phe525Leu) single nucleotide variant Pathogenic rs121908870 GRCh37 Chromosome 14, 81609977: 81609977
16 TSHR NM_000369.2(TSHR): c.1575C> A (p.Phe525Leu) single nucleotide variant Pathogenic rs121908870 GRCh38 Chromosome 14, 81143633: 81143633
17 TSHR NM_000369.2(TSHR): c.1170T> G (p.Cys390Trp) single nucleotide variant Pathogenic rs121908871 GRCh37 Chromosome 14, 81609572: 81609572
18 TSHR NM_000369.2(TSHR): c.1170T> G (p.Cys390Trp) single nucleotide variant Pathogenic rs121908871 GRCh38 Chromosome 14, 81143228: 81143228
19 TSHR NM_000369.2(TSHR): c.1657G> A (p.Ala553Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121908872 GRCh37 Chromosome 14, 81610059: 81610059
20 TSHR NM_000369.2(TSHR): c.1657G> A (p.Ala553Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121908872 GRCh38 Chromosome 14, 81143715: 81143715
21 TSHR TSHR, 18-BP DEL, 4-BP INS indel Pathogenic
22 TSHR NM_000369.2(TSHR): c.1430C> T (p.Thr477Ile) single nucleotide variant Pathogenic rs121908881 GRCh37 Chromosome 14, 81609832: 81609832
23 TSHR NM_000369.2(TSHR): c.1430C> T (p.Thr477Ile) single nucleotide variant Pathogenic rs121908881 GRCh38 Chromosome 14, 81143488: 81143488
24 TSHR NM_000369.2(TSHR): c.928C> T (p.Arg310Cys) single nucleotide variant Pathogenic rs121908882 GRCh37 Chromosome 14, 81609330: 81609330
25 TSHR NM_000369.2(TSHR): c.928C> T (p.Arg310Cys) single nucleotide variant Pathogenic rs121908882 GRCh38 Chromosome 14, 81142986: 81142986
26 TSHR NM_000369.2(TSHR): c.1798T> C (p.Cys600Arg) single nucleotide variant Pathogenic rs121908884 GRCh37 Chromosome 14, 81610200: 81610200
27 TSHR NM_000369.2(TSHR): c.1798T> C (p.Cys600Arg) single nucleotide variant Pathogenic rs121908884 GRCh38 Chromosome 14, 81143856: 81143856
28 TSHR NM_000369.2(TSHR): c.1400T> C (p.Leu467Pro) single nucleotide variant Pathogenic rs121908885 GRCh37 Chromosome 14, 81609802: 81609802
29 TSHR NM_000369.2(TSHR): c.1400T> C (p.Leu467Pro) single nucleotide variant Pathogenic rs121908885 GRCh38 Chromosome 14, 81143458: 81143458
30 TSHR TSHR, 2-BP DEL, 654AC deletion Pathogenic
31 TSHR NM_000369.2(TSHR): c.545+3G> C single nucleotide variant Pathogenic rs786205080 GRCh38 Chromosome 14, 81092611: 81092611
32 TSHR NM_000369.2(TSHR): c.545+3G> C single nucleotide variant Pathogenic rs786205080 GRCh37 Chromosome 14, 81558955: 81558955
33 TSHR NM_000369.2(TSHR): c.545+2_545+3delTG deletion Likely pathogenic rs786204790 GRCh37 Chromosome 14, 81558954: 81558955
34 TSHR NM_000369.2(TSHR): c.545+2_545+3delTG deletion Likely pathogenic rs786204790 GRCh38 Chromosome 14, 81092610: 81092611
35 TSHR NM_000369.2(TSHR): c.733G> A (p.Gly245Ser) single nucleotide variant Uncertain significance rs189506473 GRCh37 Chromosome 14, 81606063: 81606063
36 TSHR NM_000369.2(TSHR): c.733G> A (p.Gly245Ser) single nucleotide variant Uncertain significance rs189506473 GRCh38 Chromosome 14, 81139719: 81139719
37 TSHR NM_000369.2(TSHR): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic rs189261858 GRCh37 Chromosome 14, 81609751: 81609751
38 TSHR NM_000369.2(TSHR): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic rs189261858 GRCh38 Chromosome 14, 81143407: 81143407
39 TSHR NM_000369.2(TSHR): c.202C> T (p.Pro68Ser) single nucleotide variant Likely pathogenic rs142063461 GRCh37 Chromosome 14, 81528523: 81528523
40 TSHR NM_000369.2(TSHR): c.202C> T (p.Pro68Ser) single nucleotide variant Likely pathogenic rs142063461 GRCh38 Chromosome 14, 81062179: 81062179
41 TSHR NM_000369.2(TSHR): c.484C> T (p.Pro162Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 81092547: 81092547
42 TSHR NM_000369.2(TSHR): c.484C> T (p.Pro162Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 81558891: 81558891

Expression for Hypothyroidism, Congenital, Nongoitrous, 1

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

Pathways for Hypothyroidism, Congenital, Nongoitrous, 1

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 1

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

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 8.62 GNAS STX16

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.32 GNAS PTH
2 positive regulation of cold-induced thermogenesis GO:0120162 9.26 GNAS TSHR
3 activation of adenylate cyclase activity GO:0007190 9.16 GNAS TSHR
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.13 GNAS PTH TSHR
5 response to parathyroid hormone GO:0071107 8.62 GNAS PTH

Sources for Hypothyroidism, Congenital, Nongoitrous, 1

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