MCID: IDP061
MIFTS: 8

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 59

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E03.1
Orphanet 59 ORPHA95717

Summaries for Idiopathic Congenital Hypothyroidism

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

Related Diseases for Idiopathic Congenital Hypothyroidism

Symptoms & Phenotypes for Idiopathic Congenital Hypothyroidism

Human phenotypes related to Idiopathic Congenital Hypothyroidism:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
4 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
8 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
9 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
10 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
11 hypersomnia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100786
12 abnormality of the face 59 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:

41
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. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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