MCID: THY056
MIFTS: 18

Thyroid Dyshormonogenesis 3 malady

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 3

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Aliases & Descriptions for Thyroid Dyshormonogenesis 3:

Name: Thyroid Dyshormonogenesis 3 49 11 22 67 65
Tdh3 22 67
Congenital Hypothyroidism Due to Dyshormonogenesis Type 3 67
 
Genetic Defect in Thyroid Hormonogenesis Type 3 67
Chdh3 67

Characteristics:

HPO:

61
thyroid dyshormonogenesis 3:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 274700
MedGen34 C0342194
MeSH36 D003409
UMLS65 C0342194

Summaries for Thyroid Dyshormonogenesis 3

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OMIM:49 Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG)... (274700) more...

MalaCards based summary: Thyroid Dyshormonogenesis 3, is also known as tdh3, and has symptoms including increased t3/t4 ratio, compensated hypothyroidism and thyroid carcinoma. An important gene associated with Thyroid Dyshormonogenesis 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, brain and pituitary.

UniProtKB/Swiss-Prot:67 Thyroid dyshormonogenesis 3: A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.

Related Diseases for Thyroid Dyshormonogenesis 3

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Symptoms for Thyroid Dyshormonogenesis 3

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Symptoms by clinical synopsis from OMIM:

274700

Clinical features from OMIM:

274700

HPO human phenotypes related to Thyroid Dyshormonogenesis 3:

id Description Frequency HPO Source Accession
1 increased t3/t4 ratio HP:0012559
2 compensated hypothyroidism HP:0008223
3 thyroid carcinoma HP:0002890
4 intellectual disability HP:0001249
5 goiter HP:0000853

Drugs & Therapeutics for Thyroid Dyshormonogenesis 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thyroid Dyshormonogenesis 3

Genetic Tests for Thyroid Dyshormonogenesis 3

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Genetic tests related to Thyroid Dyshormonogenesis 3:

id Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 322 TG

Anatomical Context for Thyroid Dyshormonogenesis 3

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MalaCards organs/tissues related to Thyroid Dyshormonogenesis 3:

33
Thyroid, Brain, Pituitary

Animal Models for Thyroid Dyshormonogenesis 3 or affiliated genes

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Publications for Thyroid Dyshormonogenesis 3

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Variations for Thyroid Dyshormonogenesis 3

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UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 3:

67
id Symbol AA change Variation ID SNP ID
1TGp.Cys1264ArgVAR_010216rs2076738
2TGp.Cys1996SerVAR_010219rs2076739
3TGp.Cys183TyrVAR_063034
4TGp.Cys1897TyrVAR_063035
5TGp.Ala2234AspVAR_063036
6TGp.Arg2336GlnVAR_063037
7TGp.Gly2375ArgVAR_063038

Clinvar genetic disease variations for Thyroid Dyshormonogenesis 3:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1TGTG, IVS3, C-G, -3single nucleotide variantPathogenic
2TGNM_003235.4(TG): c.4588C> T (p.Arg1530Ter)single nucleotide variantPathogenicrs121912646GRCh37Chr 8, 133935642: 133935642
3TGTG, 138-BP DEL, NT5590 TG, IVS30, +1, G-TdeletionPathogenic
4TGNM_003235.4(TG): c.3733T> C (p.Cys1245Arg)single nucleotide variantPathogenicrs121912647GRCh37Chr 8, 133919031: 133919031
5TGNM_003235.4(TG): c.5986T> A (p.Cys1996Ser)single nucleotide variantPathogenicrs2076739GRCh37Chr 8, 133984049: 133984049
6TGNM_003235.4(TG): c.886C> T (p.Arg296Ter)single nucleotide variantPathogenicrs121912648GRCh37Chr 8, 133894854: 133894854
7TGTG, 1-BP DEL, 1143CdeletionPathogenic
8TGNM_003235.4(TG): c.6725G> A (p.Arg2242His)single nucleotide variantPathogenicrs2069566GRCh37Chr 8, 134030185: 134030185
9TGTG, IVS34, G-C, -1single nucleotide variantPathogenic
10TGNM_003235.4(TG): c.3229T> C (p.Cys1077Arg)single nucleotide variantPathogenicrs137854433GRCh37Chr 8, 133911054: 133911054
11TGNM_003235.4(TG): c.7123G> A (p.Gly2375Arg)single nucleotide variantPathogenicrs137854434GRCh37Chr 8, 134042152: 134042152
12TGNM_003235.4(TG): c.5690G> A (p.Cys1897Tyr)single nucleotide variantPathogenicrs121912649GRCh37Chr 8, 133980042: 133980042
13TGNM_003235.4(TG): c.7007G> A (p.Arg2336Gln)single nucleotide variantPathogenicrs121912650GRCh37Chr 8, 134034366: 134034366
14TGTG, IVS5DS, G-A, +1single nucleotide variantPathogenic
15TGNM_003235.4(TG): c.5184C> A (p.Cys1728Ter)single nucleotide variantPathogenicrs199599591GRCh37Chr 8, 133953738: 133953738
16TGNM_003235.4(TG): c.638+5G> Asingle nucleotide variantPathogenicrs774274702GRCh38Chr 8, 132873226: 132873226

Expression for genes affiliated with Thyroid Dyshormonogenesis 3

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Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 3.

Pathways for genes affiliated with Thyroid Dyshormonogenesis 3

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GO Terms for genes affiliated with Thyroid Dyshormonogenesis 3

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Sources for Thyroid Dyshormonogenesis 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet