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CHNG1
MCID: HYP374
MIFTS: 53

Hypothyroidism, Congenital, Nongoitrous, 1 (CHNG1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 56 29 6 71
Tsh Resistance 56 12 73 54
Chng1 56 12 73
Hypothyroidism Due to Unresponsiveness to Thyrotropin 56 73
Congenital Nongoitrous Hypothyroidism 1 12 15
Thyrotropin Resistance 56 73
Rtsh 56 73
Hypothyroidism, Congenital, Due to Tsh Resistance 56
Congenital Hypothyroidism Due to Tsh Resistance 73
Hypothyroidism Due to Tsh Receptor Mutations 58
Hypothyroidism, Congenital, Non-Goitrous, 1 73
Thyroid-Stimulating Hormone, Resistance to 56
Hypothyroidism, Congenital, Nongoitrous, 3 71
Thyroid-Stimulating Hormone Resistance 73
Thyroid Hormone Resistance Syndrome 71
Thyroid-Stimulating Hormone ; Rtsh 56
Hypothyroidism, Nonautoimmune 56
Non-Autoimmune Hypothyroidism 73

Characteristics:

Orphanet epidemiological data:

58
hypothyroidism due to tsh receptor mutations
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
hypothyroidism, congenital, nongoitrous, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070126
OMIM 56 275200
OMIM Phenotypic Series 56 PS275200
MeSH 43 D003409
ICD10 32 E03.1
ICD10 via Orphanet 33 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 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 Aldosterone synthesis and secretion and cAMP signaling pathway. The drugs Iodine and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include thyroid, heart and skin, and related phenotypes are macroglossia and muscular hypotonia

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

OMIM : 56 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)

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Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 1

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

Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 1 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 94)
# Related Disease Score Top Affiliating Genes
1 hyperthyroidism, nonautoimmune 33.4 TSHR CEP128
2 pseudohypoparathyroidism, type ib 31.4 STX16 PTH GNAS-AS1 GNAS GHRH
3 hypothyroidism, congenital, nongoitrous, 2 31.1 TSHR TG IYD DUOXA2
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.0 TSHR TG
5 congenital hypothyroidism 28.8 TSHR TG IYD GNAS DUOXA2
6 pseudohypoparathyroidism 28.7 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
7 goiter 28.2 TSHR TG IYD GNAS DUOXA2
8 hypothyroidism 28.0 TSHR TG PDE4D IYD GNAS GHRH
9 pseudopseudohypoparathyroidism 27.8 STX16 PTH PRKAR1A PLPPR3 PDE4D GNAS-AS1
10 pseudohypoparathyroidism, type ia 27.8 STX16 PTH PRKAR1A PLPPR3 PDE4D GNAS-AS1
11 hypothyroidism, congenital, nongoitrous, 3 11.5
12 invasive malignant thymoma 10.3 TSHR PTH
13 precocious puberty, male-limited 10.3 TSHR GNAS
14 osteitis fibrosa 10.3 PTH GNAS
15 bone benign neoplasm 10.3 PTH GNAS
16 acth-independent cushing syndrome 10.2 PRKAR1A GNAS
17 pituitary carcinoma 10.2 GNAS GHRH
18 nerve compression syndrome 10.2 PTH GHRH
19 multiple endocrine neoplasia, type iv 10.2 PRKAR1A GNAS
20 acrodysostosis with multiple hormone resistance 10.2 PRKAR1A PDE4D
21 ossifying fibroma 10.2 PTH GNAS
22 phosphorus metabolism disease 10.1 STX16 PTH GNAS
23 iodine hypothyroidism 10.1 TSHR TG
24 metal metabolism disorder 10.1 STX16 PTH GNAS
25 hyperphosphatemia 10.1 STX16 PTH GNAS
26 thyroid crisis 10.1 TSHR TG
27 toxic diffuse goiter 10.1 TSHR TG
28 athyreosis 10.1 TSHR TG
29 neonatal thyrotoxicosis 10.1 TSHR TG
30 subacute lymphocytic thyroiditis 10.1 TSHR TG
31 papillary thyroid microcarcinoma 10.1 TSHR TG
32 substernal goiter 10.1 TG PTH
33 hyperprolactinemia 10.1 PTH GNAS GHRH
34 struma ovarii 10.1 TSHR TG
35 clear cell adenoma 10.1 TG PTH
36 postsurgical hypothyroidism 10.1 TG PTH
37 nephrotic syndrome 10.1
38 renal tubular acidosis 10.1
39 distal renal tubular acidosis 10.1
40 enchondromatosis, multiple, ollier type 10.1 PTH GNAS
41 tall cell variant papillary carcinoma 10.1 TG PTH
42 hypoparathyroidism 10.1 PTH PRKAR1A GNAS
43 orbital disease 10.1 TSHR TG
44 myxedema 10.0 TSHR TG
45 hormone producing pituitary cancer 10.0 PRKAR1A GNAS GHRH
46 subacute thyroiditis 10.0 TSHR TG
47 hypocalcemia, autosomal dominant 1 10.0 PTH PRKAR1A GNAS
48 disorders of gnas inactivation 10.0 STX16 GNAS-AS1 GNAS
49 hyperpituitarism 10.0 PRKAR1A GNAS GHRH
50 adrenal gland disease 10.0 PTH PRKAR1A GNAS

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 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
4 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
5 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
6 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
7 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
8 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
9 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
10 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
11 hoarse cry 58 31 hallmark (90%) Very frequent (99-80%) HP:0001615
12 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
13 thyroid hypoplasia 31 HP:0005990
14 congenital hypothyroidism 31 HP:0000851
15 increased thyroid-stimulating hormone level 31 HP:0002925

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.63 DUOXA2 GHRH GNAS PRKAR1A STX16 TG
2 limbs/digits/tail MP:0005371 9.35 DUOXA2 GNAS PTH TG TSHR
3 skeleton MP:0005390 9.23 DUOXA2 GHRH GNAS PRKAR1A PTH STX16
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 3 7553-56-2 807
2 Hormone Antagonists Phase 3
3 cadexomer iodine Phase 3
4 Hormones Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Utility of Recombinant Human Thyrotropin (rTSH) PET-CT Fusion Scanning to Identify Residual Well-differentiated Epithelial Thyroid Cancer Completed NCT00181168 Phase 2 Euthyroid Group
3 Evaluation of Thyroid Function in Children With Congenital Heart Disease Unknown status NCT03496363
4 The Prevalence of TSH Receptor Mutation Among the Arab Population of Israel Completed NCT00747760
5 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

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, Congenital, Nongoitrous, 1 29 TSHR
Sources

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 1

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

40
Thyroid, Heart, Skin, Pituitary
Sources

Publications for Hypothyroidism, Congenital, Nongoitrous, 1

About this section

Articles related to Hypothyroidism, Congenital, Nongoitrous, 1:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. 61 56 6
9100579 1997
2
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. 56 6
9329388 1997
3
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. 6 56
9185526 1997
4
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. 6 56
7528344 1995
5
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. 6 61
12050212 2002
6
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. 6 61
11095460 2000
7
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. 56
21981779 2011
8
Morphological abnormalities in children with thyroidal congenital hypothyroidism. 56
19367618 2009
9
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. 56
17717707 2007
10
Genetics of congenital hypothyroidism. 56
15863666 2005
11
Thyroid development and its disorders: genetics and molecular mechanisms. 56
15466939 2004
12
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. 6
12629076 2003
13
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. 6
10720030 2000
14
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? 6
9589691 1998
15
The thyrotropin receptor in thyroid diseases. 56
9385128 1997
16
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. 56
9398691 1997
17
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. 56
9048917 1997
18
Four families with loss of function mutations of the thyrotropin receptor. 56
8954020 1996
19
A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. 6
8964822 1996
20
Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. 56
8170469 1994
21
Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. 56
7833660 1994
22
Familial unresponsiveness to thyrotropin by autosomal recessive inheritance. 56
8263143 1993
23
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. 56
3934357 1985
24
Inherited primary hypothyroidism in mice. 56
7209519 1981
25
Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations. 56
6246137 1980
26
Imparied cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency. 56
227208 1979
27
Thyroid dysfunction in pseudohypoparathyroidism. 56
4331064 1971
28
Congenital hypothyroidism with impaired thyroid response to thyrotropin. 56
4176719 1968
29
Genetics and phenomics of hypothyroidism due to TSH resistance. 54 61
20083154 2010
30
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. 54 61
19820021 2009
31
Technology Insight: modern methods to monitor protein-protein interactions reveal functional TSH receptor oligomerization. 54 61
17237844 2007
32
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. 61 54
16135555 2005
33
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. 61 54
16060907 2005
34
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. 54 61
12970307 2003
35
[From gene to disease; thyroid stimulating hormone receptor, hyperthyroidism and hypothyroidism]. 61 54
11379397 2001
36
Thyroid Function in Monozygotic Twins with Intra-twin Birth Weight Differences: A Prospective Longitudinal Cohort Study. 61
31076228 2019
37
[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders]. 61
30591400 2019
38
Pseudohypoparathyroidism: A case of hypocalcemia and hypothyroidism diagnosed during the postpartum period. 61
31289630 2019
39
Pseudohypoparathyroidism and Cardiomyopathy: A Case Report with a New Perspective on the Cardiovascular-Endocrine Axis with Respect to Calcium Homeostasis. 61
30931261 2019
40
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. 61
29959430 2018
41
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology. 61
29417303 2018
42
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population. 61
29136292 2018
43
Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. 61
30083029 2018
44
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood. 61
28561265 2017
45
A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B. 61
28711660 2017
46
Disorders of GNAS Inactivation 61
29072892 2017
47
Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS. 61
28323910 2017
48
The role of GLIS3 in thyroid disease as part of a multisystem disorder. 61
28648506 2017
49
Hypothyroidism associated with parathyroid disorders. 61
28648505 2017
50
Endocrinological and phenotype evaluation in a patient with acrodysostosis. 61
28804209 2017
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Variations for Hypothyroidism, Congenital, Nongoitrous, 1

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

6 (show top 50) (show all 106) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSHR NM_001018036.3(TSHR):c.500T>A (p.Ile167Asn)SNV Pathogenic 6434 rs121908862 14:81558907-81558907 14:81092563-81092563
2 TSHR NM_001018036.3(TSHR):c.484C>G (p.Pro162Ala)SNV Pathogenic 6435 rs121908863 14:81558891-81558891 14:81092547-81092547
3 TSHR NM_001018036.3(TSHR):c.326G>A (p.Arg109Gln)SNV Pathogenic 6438 rs121908865 14:81554306-81554306 14:81087962-81087962
4 TSHR NM_000369.2(TSHR):c.970C>T (p.Gln324Ter)SNV Pathogenic 6440 rs121908867 14:81609372-81609372 14:81143028-81143028
5 TSHR NM_000369.2(TSHR):c.1228G>A (p.Asp410Asn)SNV Pathogenic 6441 rs121908868 14:81609630-81609630 14:81143286-81143286
6 TSHR NM_000369.2(TSHR):c.122G>C (p.Cys41Ser)SNV Pathogenic 6442 rs121908869 14:81422146-81422146 14:80955802-80955802
7 TSHR NM_000369.2(TSHR):c.1575C>A (p.Phe525Leu)SNV Pathogenic 6443 rs121908870 14:81609977-81609977 14:81143633-81143633
8 TSHR NM_000369.2(TSHR):c.1170T>G (p.Cys390Trp)SNV Pathogenic 6444 rs121908871 14:81609572-81609572 14:81143228-81143228
9 TSHR TSHR, 18-BP DEL, 4-BP INSindel Pathogenic 6447
10 TSHR NM_000369.2(TSHR):c.1430C>T (p.Thr477Ile)SNV Pathogenic 6455 rs121908881 14:81609832-81609832 14:81143488-81143488
11 TSHR NM_000369.2(TSHR):c.928C>T (p.Arg310Cys)SNV Pathogenic 6456 rs121908882 14:81609330-81609330 14:81142986-81142986
12 TSHR NM_000369.2(TSHR):c.1798T>C (p.Cys600Arg)SNV Pathogenic 6458 rs121908884 14:81610200-81610200 14:81143856-81143856
13 TSHR NM_000369.2(TSHR):c.1400T>C (p.Leu467Pro)SNV Pathogenic 6459 rs121908885 14:81609802-81609802 14:81143458-81143458
14 TSHR TSHR, 2-BP DEL, 654ACdeletion Pathogenic 6460
15 TSHR NM_001018036.3(TSHR):c.545+3G>CSNV Pathogenic 6461 rs786205080 14:81558955-81558955 14:81092611-81092611
16 TSHR NM_001018036.3(TSHR):c.545+2_545+3delshort repeat Likely pathogenic 189249 rs786204790 14:81558952-81558953 14:81092608-81092609
17 TSHR NM_000369.2(TSHR):c.1342G>A (p.Val448Ile)SNV Conflicting interpretations of pathogenicity 208788 rs201889708 14:81609744-81609744 14:81143400-81143400
18 TSHR NM_000369.2(TSHR):c.881+3A>GSNV Conflicting interpretations of pathogenicity 218440 rs186091357 14:81606214-81606214 14:81139870-81139870
19 TSHR NM_000369.2(TSHR):c.733G>A (p.Gly245Ser)SNV Conflicting interpretations of pathogenicity 225506 rs189506473 14:81606063-81606063 14:81139719-81139719
20 TSHR NM_000369.2(TSHR):c.1349G>A (p.Arg450His)SNV Conflicting interpretations of pathogenicity 225505 rs189261858 14:81609751-81609751 14:81143407-81143407
21 TSHR NM_000369.2(TSHR):c.1600C>T (p.Arg534Cys)SNV Conflicting interpretations of pathogenicity 135394 rs150602845 14:81610002-81610002 14:81143658-81143658
22 TSHR NM_000369.2(TSHR):c.2161G>T (p.Val721Phe)SNV Conflicting interpretations of pathogenicity 135399 rs61745409 14:81610563-81610563 14:81144219-81144219
23 TSHR NM_000369.2(TSHR):c.929G>A (p.Arg310His)SNV Conflicting interpretations of pathogenicity 135401 rs139286618 14:81609331-81609331 14:81142987-81142987
24 TSHR NM_000369.2(TSHR):c.1290G>A (p.Leu430=)SNV Conflicting interpretations of pathogenicity 314697 rs375393735 14:81609692-81609692 14:81143348-81143348
25 TSHR NM_000369.2(TSHR):c.-60G>ASNV Conflicting interpretations of pathogenicity 314689 rs201252762 14:81421965-81421965 14:80955621-80955621
26 TSHR NM_000369.2(TSHR):c.171-11T>CSNV Conflicting interpretations of pathogenicity 314691 rs145265345 14:81528481-81528481 14:81062137-81062137
27 TSHR NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr)SNV Conflicting interpretations of pathogenicity 6445 rs121908872 14:81610059-81610059 14:81143715-81143715
28 TSHR NM_000369.2(TSHR):c.1637G>A (p.Trp546Ter)SNV Conflicting interpretations of pathogenicity 6439 rs121908866 14:81610039-81610039 14:81143695-81143695
29 TSHR NM_000369.4(TSHR):c.735C>G (p.Gly245=)SNV Conflicting interpretations of pathogenicity 706506 14:81606065-81606065 14:81139721-81139721
30 TSHR NM_000369.4(TSHR):c.765A>G (p.Arg255=)SNV Conflicting interpretations of pathogenicity 726776 14:81606095-81606095 14:81139751-81139751
31 TSHR NM_000369.4(TSHR):c.1206C>T (p.Ser402=)SNV Conflicting interpretations of pathogenicity 745091 14:81609608-81609608 14:81143264-81143264
32 TSHR NC_000014.9:g.80955780G>ASNV Conflicting interpretations of pathogenicity 886125 14:81422124-81422124 14:80955780-80955780
33 TSHR NC_000014.9:g.81091139A>TSNV Conflicting interpretations of pathogenicity 888396 14:81557483-81557483 14:81091139-81091139
34 TSHR NC_000014.9:g.81096704C>TSNV Conflicting interpretations of pathogenicity 885287 14:81563048-81563048 14:81096704-81096704
35 TSHR NM_000369.3(TSHR):c.202C>TSNV Conflicting interpretations of pathogenicity 437071 rs142063461 14:81528523-81528523 14:81062179-81062179
36 TSHR NC_000014.9:g.81142949G>ASNV Conflicting interpretations of pathogenicity 887198 14:81609293-81609293 14:81142949-81142949
37 TSHR NC_000014.9:g.81142973T>ASNV Conflicting interpretations of pathogenicity 887199 14:81609317-81609317 14:81142973-81142973
38 TSHR NC_000014.9:g.81143399C>TSNV Conflicting interpretations of pathogenicity 884223 14:81609743-81609743 14:81143399-81143399
39 TSHR NC_000014.9:g.81143679A>GSNV Conflicting interpretations of pathogenicity 887255 14:81610023-81610023 14:81143679-81143679
40 TSHR NC_000014.9:g.81143714C>TSNV Conflicting interpretations of pathogenicity 887256 14:81610058-81610058 14:81143714-81143714
41 TSHR NC_000014.9:g.81144029C>TSNV Conflicting interpretations of pathogenicity 888516 14:81610373-81610373 14:81144029-81144029
42 TSHR NC_000014.9:g.81144092T>CSNV Conflicting interpretations of pathogenicity 888517 14:81610436-81610436 14:81144092-81144092
43 TSHR NC_000014.9:g.81144602A>CSNV Conflicting interpretations of pathogenicity 887504 14:81610946-81610946 14:81144602-81144602
44 TSHR NC_000014.9:g.81146160T>ASNV Conflicting interpretations of pathogenicity 885352 14:81612504-81612504 14:81146160-81146160
45 TSHR NM_000369.2(TSHR):c.692+3G>ASNV Conflicting interpretations of pathogenicity 314695 rs552128204 14:81574799-81574799 14:81108455-81108455
46 TSHR NM_000369.2(TSHR):c.357T>A (p.Pro119=)SNV Conflicting interpretations of pathogenicity 314692 rs144084915 14:81554337-81554337 14:81087993-81087993
47 TSHR NM_000369.2(TSHR):c.394G>C (p.Gly132Arg)SNV Conflicting interpretations of pathogenicity 314693 rs760874290 14:81557414-81557414 14:81091070-81091070
48 TSHR NM_000369.2(TSHR):c.2120G>A (p.Arg707Gln)SNV Conflicting interpretations of pathogenicity 314698 rs368452281 14:81610522-81610522 14:81144178-81144178
49 TSHR NM_000369.2(TSHR):c.*182G>TSNV Conflicting interpretations of pathogenicity 314704 rs373305430 14:81610879-81610879 14:81144535-81144535
50 TSHR NM_000369.2(TSHR):c.*728A>GSNV Conflicting interpretations of pathogenicity 314710 rs73342245 14:81611425-81611425 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

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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 11)
# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 36
Show member pathways
 12.49 TSHR TG IYD GNAS DUOXA2
2
cAMP signaling pathway 36
12.01 TSHR PDE4D GNAS
3
Regulation of CFTR activity (norm and CF) 22
Show member pathways
 11.87 PRKAR1A PDE4D GNAS
4
Parathyroid hormone synthesis, secretion and action 36
11.63 PTH PDE4D GNAS
5
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.54 PRKAR1A PDE4D GNAS
6
Signal transduction_PKA signaling 22
11.48 PRKAR1A PDE4D GNAS
7
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.27 TSHR PDE4D GNAS
8
G alpha (s) signalling events 65
11.19 TSHR PTH PDE4D GNAS GHRH
9
Transcription_CREM signaling in testis 22
10.82 PRKAR1A GNAS
10
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.72 PTH PRKAR1A GNAS
11
Thyroxine (Thyroid Hormone) Production 1
9.93 TSHR TG
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 G protein-coupled receptor signaling pathway GO:0007186 9.83 TSHR PTH PDE4D GNAS GHRH
2 positive regulation of multicellular organism growth GO:0040018 9.4 TSHR GHRH
3 renal water homeostasis GO:0003091 9.37 PRKAR1A GNAS
4 cellular response to glucagon stimulus GO:0071377 9.32 PRKAR1A GNAS
5 thyroid hormone generation GO:0006590 9.26 TG IYD
6 thyroid hormone metabolic process GO:0042403 9.16 TG IYD
7 response to parathyroid hormone GO:0071107 8.96 PTH GNAS
8 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 8.92 TSHR PTH GNAS GHRH

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 TG PTH GHRH
2 cAMP binding GO:0030552 9.26 PRKAR1A PDE4D
3 peptide hormone receptor binding GO:0051428 8.96 PTH GHRH
4 beta-2 adrenergic receptor binding GO:0031698 8.62 PDE4D GNAS
Sources

Sources for Hypothyroidism, Congenital, Nongoitrous, 1

About this section
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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