MCID: IDP061
MIFTS: 10

Idiopathic Congenital Hypothyroidism

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Idiopathic Congenital Hypothyroidism

MalaCards integrated aliases for Idiopathic Congenital Hypothyroidism:

Name: Idiopathic Congenital Hypothyroidism 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Idiopathic Congenital Hypothyroidism

MalaCards based summary : Idiopathic Congenital Hypothyroidism Affiliated tissues include thyroid, and related phenotypes are constipation and hypothyroidism

Related Diseases for Idiopathic Congenital Hypothyroidism

Symptoms & Phenotypes for Idiopathic Congenital Hypothyroidism

Human phenotypes related to Idiopathic Congenital Hypothyroidism:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
8 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
9 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
10 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 hypersomnia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100786
12 abnormality of the face 58 Very frequent (99-80%)

Drugs & Therapeutics for Idiopathic Congenital Hypothyroidism

Search Clinical Trials , NIH Clinical Center for Idiopathic Congenital Hypothyroidism

Genetic Tests for Idiopathic Congenital Hypothyroidism

Anatomical Context for Idiopathic Congenital Hypothyroidism

MalaCards organs/tissues related to Idiopathic Congenital Hypothyroidism:

40
Thyroid

Publications for Idiopathic Congenital Hypothyroidism

Articles related to Idiopathic Congenital Hypothyroidism:

# Title Authors PMID Year
1
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 61
12110737 2002

Variations for Idiopathic Congenital Hypothyroidism

Expression for Idiopathic Congenital Hypothyroidism

Search GEO for disease gene expression data for Idiopathic Congenital Hypothyroidism.

Pathways for Idiopathic Congenital Hypothyroidism

GO Terms for Idiopathic Congenital Hypothyroidism

Sources for Idiopathic Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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