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 51 24 69 12 67
Tdh3 24 69
Congenital Hypothyroidism Due to Dyshormonogenesis Type 3 69
 
Genetic Defect in Thyroid Hormonogenesis Type 3 69
Chdh3 69

Characteristics:

HPO:

63
thyroid dyshormonogenesis 3:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 274700
MedGen36 C0342194
MeSH38 D003409

Summaries for Thyroid Dyshormonogenesis 3

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OMIM:51 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 goiter, intellectual disability and thyroid carcinoma. An important gene associated with Thyroid Dyshormonogenesis 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, pituitary and brain.

UniProtKB/Swiss-Prot:69 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

Human phenotypes related to Thyroid Dyshormonogenesis 3:

 63
id Description HPO Frequency HPO Source Accession
1 goiter63 HP:0000853
2 intellectual disability63 HP:0001249
3 thyroid carcinoma63 HP:0002890
4 compensated hypothyroidism63 HP:0008223
5 increased t3/t4 ratio63 HP:0012559

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 324 TG

Anatomical Context for Thyroid Dyshormonogenesis 3

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MalaCards organs/tissues related to Thyroid Dyshormonogenesis 3:

35
Thyroid, Pituitary, Brain

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:

69
id Symbol AA change Variation ID SNP ID
1TGp.Cys1264ArgVAR_010216rs2076738
2TGp.Cys1996SerVAR_010219rs2076739
3TGp.Cys183TyrVAR_063034
4TGp.Cys1897TyrVAR_063035rs121912649
5TGp.Ala2234AspVAR_063036rs370991693
6TGp.Arg2336GlnVAR_063037rs121912650
7TGp.Gly2375ArgVAR_063038rs137854434

Clinvar genetic disease variations for Thyroid Dyshormonogenesis 3:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1TGTG, IVS3, C-G, -3SNVPathogenicChr na, -1: -1
2TGNM_003235.4(TG): c.4588C> T (p.Arg1530Ter)SNVPathogenicrs121912646GRCh37Chr 8, 133935642: 133935642
3TGTG, 138-BP DEL, NT5590 TG, IVS30, +1, G-TdeletionPathogenicChr na, -1: -1
4TGNM_003235.4(TG): c.3733T> C (p.Cys1245Arg)SNVPathogenicrs121912647GRCh37Chr 8, 133919031: 133919031
5TGNM_003235.4(TG): c.5986T> A (p.Cys1996Ser)SNVPathogenicrs2076739GRCh37Chr 8, 133984049: 133984049
6TGNM_003235.4(TG): c.886C> T (p.Arg296Ter)SNVPathogenicrs121912648GRCh37Chr 8, 133894854: 133894854
7TGTG, 1-BP DEL, 1143CdeletionPathogenicChr na, -1: -1
8TGNM_003235.4(TG): c.6725G> A (p.Arg2242His)SNVPathogenicrs2069566GRCh37Chr 8, 134030185: 134030185
9TGTG, IVS34, G-C, -1SNVPathogenicChr na, -1: -1
10TGNM_003235.4(TG): c.3229T> C (p.Cys1077Arg)SNVPathogenicrs137854433GRCh37Chr 8, 133911054: 133911054
11TGNM_003235.4(TG): c.7123G> A (p.Gly2375Arg)SNVPathogenicrs137854434GRCh37Chr 8, 134042152: 134042152
12TGNM_003235.4(TG): c.5690G> A (p.Cys1897Tyr)SNVPathogenicrs121912649GRCh37Chr 8, 133980042: 133980042
13TGNM_003235.4(TG): c.7007G> A (p.Arg2336Gln)SNVPathogenicrs121912650GRCh37Chr 8, 134034366: 134034366
14TGTG, IVS5DS, G-A, +1SNVPathogenicChr na, -1: -1
15TGNM_003235.4(TG): c.5184C> A (p.Cys1728Ter)SNVPathogenicrs199599591GRCh37Chr 8, 133953738: 133953738
16TGNM_003235.4(TG): c.638+5G> ASNVPathogenicrs774274702GRCh38Chr 8, 132873226: 132873226
17TGNM_003235.4(TG): c.6379C> T (p.Arg2127Ter)SNVPathogenicrs375424292GRCh37Chr 8, 134024262: 134024262

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet