MCID: GNT039
MIFTS: 9

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 56

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA226316
ICD10 via Orphanet 34 P72.2

Summaries for Genetic Transient Congenital Hypothyroidism

MalaCards based summary : Genetic Transient Congenital Hypothyroidism and has symptoms including congenital hypothyroidism, goiter and decreased t3/t4 ratio. An important gene associated with Genetic Transient Congenital Hypothyroidism is DUOX2 (Dual Oxidase 2). Affiliated tissues include thyroid.

Related Diseases for Genetic Transient Congenital Hypothyroidism

Symptoms & Phenotypes for Genetic Transient Congenital Hypothyroidism

Human phenotypes related to Genetic Transient Congenital Hypothyroidism:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000851
2 goiter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000853
3 decreased t3/t4 ratio 56 32 hallmark (90%) Very frequent (99-80%) HP:0012560
4 hypothyroidism 56 Very frequent (99-80%)
5 thyroid-stimulating hormone excess 56 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:

39
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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