MCID: DYS008
MIFTS: 17

Dyshormonogenic Goiter

Categories: Endocrine diseases

Aliases & Classifications for Dyshormonogenic Goiter

MalaCards integrated aliases for Dyshormonogenic Goiter:

Name: Dyshormonogenic Goiter 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:12175
ICD10 33 E07.1
ICD9CM 35 246.1
SNOMED-CT 68 190304001
UMLS 73 C0152077

Summaries for Dyshormonogenic Goiter

MalaCards based summary : Dyshormonogenic Goiter is related to athyreosis and achondrogenesis, type ib. An important gene associated with Dyshormonogenic Goiter is DUOXA1 (Dual Oxidase Maturation Factor 1), and among its related pathways/superpathways is Aldosterone synthesis and secretion.

Related Diseases for Dyshormonogenic Goiter

Graphical network of the top 20 diseases related to Dyshormonogenic Goiter:



Diseases related to Dyshormonogenic Goiter

Symptoms & Phenotypes for Dyshormonogenic Goiter

Drugs & Therapeutics for Dyshormonogenic Goiter

Search Clinical Trials , NIH Clinical Center for Dyshormonogenic Goiter

Genetic Tests for Dyshormonogenic Goiter

Anatomical Context for Dyshormonogenic Goiter

Publications for Dyshormonogenic Goiter

Variations for Dyshormonogenic Goiter

Expression for Dyshormonogenic Goiter

Search GEO for disease gene expression data for Dyshormonogenic Goiter.

Pathways for Dyshormonogenic Goiter

Pathways related to Dyshormonogenic Goiter according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 DUOX2 DUOXA2 SERPINA7 SLC26A4 TG

GO Terms for Dyshormonogenic Goiter

Cellular components related to Dyshormonogenic Goiter according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 DUOX2 SLC26A2 SLC26A4

Biological processes related to Dyshormonogenic Goiter according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.54 SLC26A2 SLC26A4
2 regulation of inflammatory response GO:0050727 9.52 DUOXA1 DUOXA2
3 chloride transmembrane transport GO:1902476 9.51 SLC26A2 SLC26A4
4 bicarbonate transport GO:0015701 9.49 SLC26A2 SLC26A4
5 regulation of intracellular pH GO:0051453 9.48 SLC26A2 SLC26A4
6 thyroid gland development GO:0030878 9.46 DUOX2 TG
7 sulfate transport GO:0008272 9.43 SLC26A2 SLC26A4
8 sulfate transmembrane transport GO:1902358 9.4 SLC26A2 SLC26A4
9 hormone biosynthetic process GO:0042446 9.37 DUOX2 TG
10 oxalate transport GO:0019532 9.32 SLC26A2 SLC26A4
11 thyroid hormone metabolic process GO:0042403 9.26 DUOX2 TG
12 hydrogen peroxide metabolic process GO:0042743 9.16 DUOXA1 DUOXA2
13 iodide transport GO:0015705 8.96 SLC26A4 TG
14 regulation of thyroid hormone generation GO:2000609 8.62 DUOXA1 DUOXA2

Molecular functions related to Dyshormonogenic Goiter according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.37 SLC26A2 SLC26A4
2 anion:anion antiporter activity GO:0015301 9.32 SLC26A2 SLC26A4
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A2 SLC26A4
4 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A2 SLC26A4
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A4
6 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A2 SLC26A4

Sources for Dyshormonogenic Goiter

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....