MCID: DYS008
MIFTS: 20

Dyshormonogenic Goiter

Categories: Endocrine diseases

Aliases & Classifications for Dyshormonogenic Goiter

MalaCards integrated aliases for Dyshormonogenic Goiter:

Name: Dyshormonogenic Goiter 12 15 70
Dyshormonogenic Goitre 12

Classifications:



External Ids:

Disease Ontology 12 DOID:12175
ICD9CM 34 246.1
SNOMED-CT 67 190304001
ICD10 32 E07.1
UMLS 70 C0152077

Summaries for Dyshormonogenic Goiter

MalaCards based summary : Dyshormonogenic Goiter, also known as dyshormonogenic goitre, is related to endemic goiter and hypothyroidism, congenital, nongoitrous, 1. An important gene associated with Dyshormonogenic Goiter is DUOXA2 (Dual Oxidase Maturation Factor 2), and among its related pathways/superpathways is Aldosterone synthesis and secretion. Affiliated tissues include thyroid.

Related Diseases for Dyshormonogenic Goiter

Diseases related to Dyshormonogenic Goiter via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endemic goiter 9.8 SLC26A4 IYD
2 hypothyroidism, congenital, nongoitrous, 1 9.8 IYD DUOXA2
3 familial thyroid dyshormonogenesis 9.7 IYD DUOXA2
4 goiter 9.7 SLC26A4 IYD DUOXA2
5 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.6 SLC26A4 IYD DUOXA2
6 thyroid gland disease 9.6 SLC26A4 IYD DUOXA2
7 pendred syndrome 9.4 SLC26A7 SLC26A4 IYD
8 congenital hypothyroidism 8.9 SLC26A7 SLC26A4 IYD DUOXA2 DUOXA1
9 hypothyroidism 8.9 SLC26A7 SLC26A4 IYD DUOXA2 DUOXA1

Comorbidity relations with Dyshormonogenic Goiter via Phenotypic Disease Network (PDN):


Heart Disease Hypothyroidism

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

MalaCards organs/tissues related to Dyshormonogenic Goiter:

40
Thyroid

Publications for Dyshormonogenic Goiter

Articles related to Dyshormonogenic Goiter:

# Title Authors PMID Year
1
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. 61
30333321 2018
2
Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet. 61
20834201 2011
3
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. 61
18042646 2008
4
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 61
11919333 2002
5
Sulfate transport is not impaired in pendred syndrome thyrocytes. 61
10404839 1999
6
Serum thyroglobulin determinations in the differential diagnosis of congenital hypothyroidism. 61
6715793 1984

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
11.57 SLC26A4 IYD DUOXA2

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 integral component of membrane GO:0016021 9.55 SLC26A7 SLC26A4 IYD DUOXA2 DUOXA1
2 plasma membrane GO:0005886 9.35 SLC26A7 SLC26A4 IYD DUOXA2 DUOXA1
3 cell leading edge GO:0031252 8.62 DUOXA2 DUOXA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 9.51 SLC26A7 SLC26A4
2 regulation of inflammatory response GO:0050727 9.49 DUOXA2 DUOXA1
3 protein localization GO:0008104 9.48 DUOXA2 DUOXA1
4 cellular protein localization GO:0034613 9.46 DUOXA2 DUOXA1
5 anion transmembrane transport GO:0098656 9.43 SLC26A7 SLC26A4
6 bicarbonate transport GO:0015701 9.4 SLC26A7 SLC26A4
7 sulfate transmembrane transport GO:1902358 9.37 SLC26A7 SLC26A4
8 sulfate transport GO:0008272 9.32 SLC26A7 SLC26A4
9 oxalate transport GO:0019532 9.26 SLC26A7 SLC26A4
10 hydrogen peroxide metabolic process GO:0042743 9.16 DUOXA2 DUOXA1
11 positive regulation of hydrogen peroxide biosynthetic process GO:0010729 8.96 DUOXA2 DUOXA1
12 regulation of thyroid hormone generation GO:2000609 8.62 DUOXA2 DUOXA1

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

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.37 SLC26A7 SLC26A4
2 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A7 SLC26A4
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A7 SLC26A4
4 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A7 SLC26A4
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A7 SLC26A4
6 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A7 SLC26A4

Sources for Dyshormonogenic Goiter

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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