MCID: GNT039
MIFTS: 8

Genetic Transient Congenital Hypothyroidism

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Genetic Transient Congenital Hypothyroidism

MalaCards integrated aliases for Genetic Transient Congenital Hypothyroidism:

Name: Genetic Transient Congenital Hypothyroidism 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 P72.2
Orphanet 58 ORPHA226316

Summaries for Genetic Transient Congenital Hypothyroidism

MalaCards based summary : Genetic Transient Congenital Hypothyroidism An important gene associated with Genetic Transient Congenital Hypothyroidism is DUOX2 (Dual Oxidase 2). Affiliated tissues include thyroid, and related phenotypes are congenital hypothyroidism and increased thyroid-stimulating hormone level

Related Diseases for Genetic Transient Congenital Hypothyroidism

Symptoms & Phenotypes for Genetic Transient Congenital Hypothyroidism

Human phenotypes related to Genetic Transient Congenital Hypothyroidism:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000851
2 increased thyroid-stimulating hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002925
3 decreased t3/t4 ratio 58 31 hallmark (90%) Very frequent (99-80%) HP:0012560
4 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
5 hypothyroidism 58 Very frequent (99-80%)

Drugs & Therapeutics for Genetic Transient Congenital Hypothyroidism

Search Clinical Trials , NIH Clinical Center for Genetic Transient Congenital Hypothyroidism

Genetic Tests for Genetic Transient Congenital Hypothyroidism

Anatomical Context for Genetic Transient Congenital Hypothyroidism

MalaCards organs/tissues related to Genetic Transient Congenital Hypothyroidism:

40
Thyroid

Publications for Genetic Transient Congenital Hypothyroidism

Variations for Genetic Transient Congenital Hypothyroidism

Expression for Genetic Transient Congenital Hypothyroidism

Search GEO for disease gene expression data for Genetic Transient Congenital Hypothyroidism.

Pathways for Genetic Transient Congenital Hypothyroidism

GO Terms for Genetic Transient Congenital Hypothyroidism

Sources for Genetic Transient Congenital Hypothyroidism

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
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