CHNG3
MCID: HYP355
MIFTS: 20

Hypothyroidism, Congenital, Nongoitrous, 3 (CHNG3)

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

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 3

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 3:

Name: Hypothyroidism, Congenital, Nongoitrous, 3 57 13 70
Chng3 57 12
Hypothyroidism, Congenital, Nongoitrous, 1 70
Congenital Nongoitrous Hypothyroidism 3 12
Thyroid Hormone Resistance Syndrome 70
Resistance to Thyrotropin 57
Thyrotropin Resistance 57
Thyrotropin; Rtsh 57
Rtsh 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0070127
OMIM® 57 609893
OMIM Phenotypic Series 57 PS275200
ICD10 32 E03.1
MedGen 41 C2940785
UMLS 70 C2940785 C2940786 C3493776

Summaries for Hypothyroidism, Congenital, Nongoitrous, 3

Disease Ontology : 12 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 3, also known as chng3, is related to hypothyroidism, congenital, nongoitrous, 7 and hypothyroidism, congenital, nongoitrous, 2. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 3 is CHNG3 (Hypothyroidism, Congenital, Nongoitrous, 3). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include thyroid.

More information from OMIM: 609893 PS275200

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 3

Graphical network of the top 20 diseases related to Hypothyroidism, Congenital, Nongoitrous, 3:



Diseases related to Hypothyroidism, Congenital, Nongoitrous, 3

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 3

Clinical features from OMIM®:

609893 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 3

Drugs for Hypothyroidism, Congenital, Nongoitrous, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Utility of Recombinant Human Thyrotropin (rTSH) PET-CT Fusion Scanning to Identify Residual Well-differentiated Epithelial Thyroid Cancer Completed NCT00181168 Phase 2 Euthyroid Group

Search NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 3

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 3

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 3

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 3:

40
Thyroid

Publications for Hypothyroidism, Congenital, Nongoitrous, 3

Articles related to Hypothyroidism, Congenital, Nongoitrous, 3:

(show all 12)
# Title Authors PMID Year
1
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. 57
16189712 2005
2
Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci. 57
15870119 2005
3
Familial hypothyroidism with autosomal dominant inheritance. 57
8976668 1996
4
Resistance to thyrotropin. 61
28648507 2017
5
Recombinant thyrotropin for detection of recurrent thyroid cancer. 61
12053710 2002
6
Practical application of recombinant thyrotropin testing in clinical practice. 61
11421568 2001
7
Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone. 61
10646670 1999
8
Strategies for thyrotropin use to monitor patients with treated thyroid carcinoma. 61
10365672 1999
9
Characteristics of a negative thyroid hormone response element. 61
8307979 1994
10
Thyroid hormone inhibits thyrotropin gene expression via a position-independent negative L-triiodothyronine-responsive element. 61
1527000 1992
11
Pulsatile growth hormone, prolactin, and thyrotropin secretion in rats with hypothalamic deafferentation. 61
861747 1977
12
A radioimmunoassay for serum rat thyroglobulin. Physiologic and pharmacological studies. 61
1184735 1975

Variations for Hypothyroidism, Congenital, Nongoitrous, 3

Expression for Hypothyroidism, Congenital, Nongoitrous, 3

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 3.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 3

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 3

Sources for Hypothyroidism, Congenital, Nongoitrous, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....