MCID: DYS008
MIFTS: 19

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
UMLS 73 C0152077

Summaries for Dyshormonogenic Goiter

MalaCards based summary : Dyshormonogenic Goiter is related to achondrogenesis, type ib and diastrophic dysplasia. An important gene associated with Dyshormonogenic Goiter is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways is Aldosterone synthesis and secretion. Affiliated tissues include thyroid, and related phenotype is skeleton.

Related Diseases for Dyshormonogenic Goiter

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ib 10.1 SLC26A2 SLC26A4
2 diastrophic dysplasia 10.1 SLC26A2 SLC26A4
3 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 SLC26A2 SLC26A4
4 athyreosis 10.0 SLC26A4 TG
5 hypothyroidism, central, and testicular enlargement 10.0 DUOX2 DUOXA2
6 endemic goiter 9.9 SERPINA7 TG
7 graves disease 1 9.9 SERPINA7 TG
8 multinodular goiter 9.9 SLC26A4 TG
9 nontoxic goiter 9.9 SERPINA7 TG
10 thyroid hormone resistance, generalized, autosomal dominant 9.9 SERPINA7 TG
11 toxic diffuse goiter 9.9 SERPINA7 TG
12 follicular adenoma 9.9 SLC26A4 TG
13 thyroid crisis 9.9 SERPINA7 TG
14 subacute thyroiditis 9.9 SERPINA7 TG
15 thyroiditis 9.9 SERPINA7 TG
16 autosomal recessive disease 9.9 SLC26A2 SLC26A4
17 hypothyroidism, congenital, nongoitrous, 4 9.9 SERPINA7 TG
18 autoimmune disease of endocrine system 9.9 SERPINA7 TG
19 hashimoto thyroiditis 9.8 SLC26A4 TG
20 hypothyroidism, congenital, nongoitrous, 2 9.8 SERPINA7 SLC26A4 TG
21 hyperthyroidism 9.8 SERPINA7 TG
22 familial thyroid dyshormonogenesis 9.7 DUOX2 DUOXA2 TG
23 goiter 9.7 DUOXA2 SERPINA7 SLC26A4 TG
24 thyroid gland disease 9.6 DUOXA2 SERPINA7 SLC26A4 TG
25 pendred syndrome 9.6 DUOX2 SLC26A2 SLC26A4 TG
26 hypothyroidism 9.4 DUOX2 DUOXA2 SERPINA7 SLC26A4 TG
27 congenital hypothyroidism 9.3 DUOX2 DUOXA1 DUOXA2 SERPINA7 SLC26A4 TG

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

MGI Mouse Phenotypes related to Dyshormonogenic Goiter:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.02 DUOX2 DUOXA2 SLC26A2 SLC26A4 TG

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:

41
Thyroid

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
11.7 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 9.65 SLC26A2 SLC26A4 SLC26A7
2 chloride transmembrane transport GO:1902476 9.61 SLC26A2 SLC26A4 SLC26A7
3 regulation of inflammatory response GO:0050727 9.54 DUOXA1 DUOXA2
4 anion transmembrane transport GO:0098656 9.52 SLC26A4 SLC26A7
5 thyroid gland development GO:0030878 9.51 DUOX2 TG
6 bicarbonate transport GO:0015701 9.5 SLC26A2 SLC26A4 SLC26A7
7 hormone biosynthetic process GO:0042446 9.49 DUOX2 TG
8 thyroid hormone metabolic process GO:0042403 9.46 DUOX2 TG
9 hydrogen peroxide metabolic process GO:0042743 9.4 DUOXA1 DUOXA2
10 iodide transport GO:0015705 9.37 SLC26A4 TG
11 sulfate transport GO:0008272 9.33 SLC26A2 SLC26A4 SLC26A7
12 regulation of thyroid hormone generation GO:2000609 9.26 DUOXA1 DUOXA2
13 sulfate transmembrane transport GO:1902358 9.13 SLC26A2 SLC26A4 SLC26A7
14 oxalate transport GO:0019532 8.8 SLC26A2 SLC26A4 SLC26A7

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 9.54 SLC26A2 SLC26A4 SLC26A7
2 sulfate transmembrane transporter activity GO:0015116 9.5 SLC26A2 SLC26A4 SLC26A7
3 bicarbonate transmembrane transporter activity GO:0015106 9.43 SLC26A2 SLC26A4 SLC26A7
4 chloride transmembrane transporter activity GO:0015108 9.33 SLC26A2 SLC26A4 SLC26A7
5 secondary active sulfate transmembrane transporter activity GO:0008271 9.13 SLC26A2 SLC26A4 SLC26A7
6 oxalate transmembrane transporter activity GO:0019531 8.8 SLC26A2 SLC26A4 SLC26A7

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
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