MCID: IDP061
MIFTS: 11

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 56

Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Idiopathic Congenital Hypothyroidism

MalaCards based summary : Idiopathic Congenital Hypothyroidism and has symptoms including macroglossia, large fontanelles and coarse facial features.

Related Diseases for Idiopathic Congenital Hypothyroidism

Symptoms & Phenotypes for Idiopathic Congenital Hypothyroidism

Human phenotypes related to Idiopathic Congenital Hypothyroidism:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000821
5 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
6 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 growth delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001510
9 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
10 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
11 hypersomnia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100786
12 abnormality of the face 56 Very frequent (99-80%)

Drugs & Therapeutics for Idiopathic Congenital Hypothyroidism

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261

Search NIH Clinical Center for Idiopathic Congenital Hypothyroidism

Genetic Tests for Idiopathic Congenital Hypothyroidism

Anatomical Context for Idiopathic Congenital Hypothyroidism

Publications for Idiopathic Congenital Hypothyroidism

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
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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