MCID: THY056
MIFTS: 15

Thyroid Dyshormonogenesis 3 malady

Genetic diseases (common) category
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Summaries for Thyroid Dyshormonogenesis 3

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MalaCards based summary: Thyroid Dyshormonogenesis 3, is also known as iodotyrosyl coupling defect and has symptoms including An important gene associated with Thyroid Dyshormonogenesis 3 is TG (thyroglobulin). Affiliated tissues include thyroid, brain and pituitary.

Description from OMIM:46 274700

Aliases & Classifications for Thyroid Dyshormonogenesis 3

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Thyroid Dyshormonogenesis 3, Aliases & Descriptions:

Name: Thyroid Dyshormonogenesis 3 20 46
 
Iodotyrosyl Coupling Defect 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 goiter HP:0000853
3 intellectual disability HP:0001249
4 thyroid carcinoma HP:0002890
5 compensated hypothyroidism HP:0008223
6 increased t3/t4 ratio HP:0012559

Drugs & Therapeutics for Thyroid Dyshormonogenesis 3

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Drug clinical trials:

Search ClinicalTrials for Thyroid Dyshormonogenesis 3

Search 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 320 TG

Anatomical Context for Thyroid Dyshormonogenesis 3

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MalaCards organs/tissues related to Thyroid Dyshormonogenesis 3:

32
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:

64
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:

6 (show all 14)
id Gene Name 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

Expression for genes affiliated with Thyroid Dyshormonogenesis 3

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Expression patterns in normal tissues for genes affiliated with Thyroid Dyshormonogenesis 3

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Pathways for genes affiliated with Thyroid Dyshormonogenesis 3

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Compounds for genes affiliated with Thyroid Dyshormonogenesis 3

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GO Terms for genes affiliated with Thyroid Dyshormonogenesis 3

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Products for genes affiliated with Thyroid Dyshormonogenesis 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Thyroid Dyshormonogenesis 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet