TDH3
MCID: THY056
MIFTS: 18

Thyroid Dyshormonogenesis 3 (TDH3) malady

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 3

Aliases & Descriptions for Thyroid Dyshormonogenesis 3:

Name: Thyroid Dyshormonogenesis 3 54 24 66 13 69
Tdh3 24 66
Congenital Hypothyroidism Due to Dyshormonogenesis Type 3 66
Genetic Defect in Thyroid Hormonogenesis Type 3 66
Chdh3 66

Characteristics:

HPO:

32
thyroid dyshormonogenesis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 274700
MedGen 40 C0342194
MeSH 42 D003409

Summaries for Thyroid Dyshormonogenesis 3

OMIM : 54 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 intellectual disability, goiter and thyroid carcinoma. An important gene associated with Thyroid Dyshormonogenesis 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, brain and pituitary.

UniProtKB/Swiss-Prot : 66 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

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 3

Symptoms by clinical synopsis from OMIM:

274700

Clinical features from OMIM:

274700

Human phenotypes related to Thyroid Dyshormonogenesis 3:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 goiter 32 HP:0000853
3 thyroid carcinoma 32 HP:0002890
4 compensated hypothyroidism 32 HP:0008223
5 increased t3/t4 ratio 32 HP:0012559

Drugs & Therapeutics for Thyroid Dyshormonogenesis 3

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 3

Genetic Tests for Thyroid Dyshormonogenesis 3

Genetic tests related to Thyroid Dyshormonogenesis 3:

id Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 3 24 TG

Anatomical Context for Thyroid Dyshormonogenesis 3

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 3:

39
Thyroid, Brain, Pituitary

Publications for Thyroid Dyshormonogenesis 3

Variations for Thyroid Dyshormonogenesis 3

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

66
id Symbol AA change Variation ID SNP ID
1 TG p.Cys1264Arg VAR_010216 rs2076738
2 TG p.Cys1996Ser VAR_010219 rs2076739
3 TG p.Cys183Tyr VAR_063034
4 TG p.Cys1897Tyr VAR_063035 rs121912649
5 TG p.Ala2234Asp VAR_063036 rs370991693
6 TG p.Arg2336Gln VAR_063037 rs121912650
7 TG p.Gly2375Arg VAR_063038 rs137854434

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 3:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 TG TG, IVS3, C-G, -3 single nucleotide variant Pathogenic
2 TG NM_003235.4(TG): c.4588C> T (p.Arg1530Ter) single nucleotide variant Pathogenic rs121912646 GRCh37 Chromosome 8, 133935642: 133935642
3 TG TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T deletion Pathogenic
4 TG NM_003235.4(TG): c.3733T> C (p.Cys1245Arg) single nucleotide variant Pathogenic rs121912647 GRCh37 Chromosome 8, 133919031: 133919031
5 TG NM_003235.4(TG): c.5986T> A (p.Cys1996Ser) single nucleotide variant Pathogenic rs2076739 GRCh37 Chromosome 8, 133984049: 133984049
6 TG NM_003235.4(TG): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs121912648 GRCh37 Chromosome 8, 133894854: 133894854
7 TG TG, 1-BP DEL, 1143C deletion Pathogenic
8 TG NM_003235.4(TG): c.6725G> A (p.Arg2242His) single nucleotide variant Pathogenic rs2069566 GRCh37 Chromosome 8, 134030185: 134030185
9 TG TG, IVS34, G-C, -1 single nucleotide variant Pathogenic
10 TG NM_003235.4(TG): c.3229T> C (p.Cys1077Arg) single nucleotide variant Pathogenic rs137854433 GRCh37 Chromosome 8, 133911054: 133911054
11 TG NM_003235.4(TG): c.7123G> A (p.Gly2375Arg) single nucleotide variant Pathogenic rs137854434 GRCh37 Chromosome 8, 134042152: 134042152
12 TG NM_003235.4(TG): c.5690G> A (p.Cys1897Tyr) single nucleotide variant Pathogenic rs121912649 GRCh37 Chromosome 8, 133980042: 133980042
13 TG NM_003235.4(TG): c.7007G> A (p.Arg2336Gln) single nucleotide variant Pathogenic rs121912650 GRCh37 Chromosome 8, 134034366: 134034366
14 TG TG, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
15 TG NM_003235.4(TG): c.5184C> A (p.Cys1728Ter) single nucleotide variant Pathogenic rs199599591 GRCh37 Chromosome 8, 133953738: 133953738
16 TG NM_003235.4(TG): c.6379C> T (p.Arg2127Ter) single nucleotide variant Pathogenic rs375424292 GRCh37 Chromosome 8, 134024262: 134024262

Expression for Thyroid Dyshormonogenesis 3

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

Pathways for Thyroid Dyshormonogenesis 3

GO Terms for Thyroid Dyshormonogenesis 3

Sources for Thyroid Dyshormonogenesis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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