MCID: HYP355
MIFTS: 32

Hypothyroidism, Congenital, Nongoitrous, 3

Categories: Endocrine diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 3

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

Name: Hypothyroidism, Congenital, Nongoitrous, 3 57 13 73
Hypothyroidism, Congenital, Nongoitrous, 1 73
Peripheral Resistance to Thyroid Hormones 59
Thyroid Hormone Resistance Syndrome 73
Resistance to Thyrotropin 57
Thyrotropin Resistance 57
Thyrotropin; Rtsh 57
Chng3 57
Rtsh 57

Characteristics:

Orphanet epidemiological data:

59
peripheral resistance to thyroid hormones
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 609893
Orphanet 59 ORPHA97927
ICD10 via Orphanet 34 E03.1
MedGen 42 C2940785

Summaries for Hypothyroidism, Congenital, Nongoitrous, 3

MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 3, also known as hypothyroidism, congenital, nongoitrous, 1, is related to thyroid hormone resistance, generalized, autosomal dominant and peripheral resistance to thyroid hormones. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 3 is THRB (Thyroid Hormone Receptor Beta), and among its related pathways/superpathways are Angiopoietin Like Protein 8 Regulatory Pathway and Thyroid hormone signaling pathway. Affiliated tissues include thyroid and pituitary, and related phenotypes are macroglossia and large fontanelles

Description from OMIM: 609893

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

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 3:

59 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 59 Very frequent (99-80%)
2 large fontanelles 59 Very frequent (99-80%)
3 abnormality of the face 59 Very frequent (99-80%)
4 coarse facial features 59 Very frequent (99-80%)
5 hypothyroidism 59 Very frequent (99-80%)
6 jaundice 59 Very frequent (99-80%)
7 muscular hypotonia 59 Very frequent (99-80%)
8 umbilical hernia 59 Very frequent (99-80%)
9 constipation 59 Very frequent (99-80%)
10 sleep disturbance 59 Very frequent (99-80%)
11 abdominal distention 59 Very frequent (99-80%)
12 feeding difficulties 59 Very frequent (99-80%)

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TSH Receptor Mutations Among a Consanguineous Community Completed NCT00747760

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:

41
Thyroid, Pituitary

Publications for Hypothyroidism, Congenital, Nongoitrous, 3

Articles related to Hypothyroidism, Congenital, Nongoitrous, 3:

# Title Authors Year
1
Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. ( 2981377 )
1985

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

Pathways related to Hypothyroidism, Congenital, Nongoitrous, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 THRA THRB
2 11.22 THRA THRB
3
Show member pathways
10.91 THRA THRB
4 10.28 THRA THRB

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 3

Cellular components related to Hypothyroidism, Congenital, Nongoitrous, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 THRA THRB

Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.48 THRA THRB
2 animal organ morphogenesis GO:0009887 9.46 THRA THRB
3 steroid hormone mediated signaling pathway GO:0043401 9.43 THRA THRB
4 intracellular receptor signaling pathway GO:0030522 9.4 THRA THRB
5 hormone-mediated signaling pathway GO:0009755 9.37 THRA THRB
6 regulation of heart contraction GO:0008016 9.32 THRA THRB
7 thyroid gland development GO:0030878 9.26 THRA THRB
8 Type I pneumocyte differentiation GO:0060509 9.16 THRA THRB
9 thyroid hormone mediated signaling pathway GO:0002154 8.96 THRA THRB
10 female courtship behavior GO:0008050 8.62 THRA THRB

Molecular functions related to Hypothyroidism, Congenital, Nongoitrous, 3 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.49 THRA THRB
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.48 THRA THRB
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.46 THRA THRB
4 ligand-dependent nuclear receptor transcription coactivator activity GO:0030374 9.43 THRA THRB
5 chromatin DNA binding GO:0031490 9.4 THRA THRB
6 steroid hormone receptor activity GO:0003707 9.37 THRA THRB
7 nuclear receptor activity GO:0004879 9.32 THRA THRB
8 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.26 THRA THRB
9 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.16 THRA THRB
10 thyroid hormone receptor activity GO:0004887 8.96 THRA THRB
11 thyroid hormone binding GO:0070324 8.62 THRA THRB

Sources for Hypothyroidism, Congenital, Nongoitrous, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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