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 60

Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 35 P72.2
Orphanet 60 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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000851
2 increased thyroid-stimulating hormone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0002925
3 decreased t3/t4 ratio 60 33 hallmark (90%) Very frequent (99-80%) HP:0012560
4 goiter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000853
5 hypothyroidism 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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