MCID: GNT039
MIFTS: 10

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 59

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA226316
ICD10 via Orphanet 34 P72.2

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 goiter

Related Diseases for Genetic Transient Congenital Hypothyroidism

Symptoms & Phenotypes for Genetic Transient Congenital Hypothyroidism

Human phenotypes related to Genetic Transient Congenital Hypothyroidism:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000851
2 goiter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000853
3 decreased t3/t4 ratio 59 32 hallmark (90%) Very frequent (99-80%) HP:0012560
4 hypothyroidism 59 Very frequent (99-80%)
5 thyroid-stimulating hormone excess 59 Very frequent (99-80%)
6 increased thyroid-stimulating hormone level 32 hallmark (90%) HP:0002925

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:

41
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 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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