TDH3
MCID: THY056
MIFTS: 28

Thyroid Dyshormonogenesis 3 (TDH3)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 3

MalaCards integrated aliases for Thyroid Dyshormonogenesis 3:

Name: Thyroid Dyshormonogenesis 3 56 73 13 71
Tdh3 56 73
Congenital Hypothyroidism Due to Dyshormonogenesis Type 3 73
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 3 56
Genetic Defect in Thyroid Hormonogenesis Type 3 73
Thyroid Hormonogenesis, Genetic Defect in, 3 56
Thyroid Dyshormonogenesis, Type 3 39
Chdh3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
thyroid dyshormonogenesis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 274700
MeSH 43 D003409
MedGen 41 C0342194
UMLS 71 C0342194

Summaries for Thyroid Dyshormonogenesis 3

OMIM : 56 Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 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. (274700)

MalaCards based summary : Thyroid Dyshormonogenesis 3, also known as tdh3, is related to thyroid dyshormonogenesis 1. An important gene associated with Thyroid Dyshormonogenesis 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, brain and pituitary, and related phenotypes are intellectual disability and goiter

UniProtKB/Swiss-Prot : 73 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

Diseases in the Thyroid Dyshormonogenesis 2a family:

Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4 Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6 Familial Thyroid Dyshormonogenesis

Diseases related to Thyroid Dyshormonogenesis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thyroid dyshormonogenesis 1 10.4

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 3

Human phenotypes related to Thyroid Dyshormonogenesis 3:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 goiter 31 HP:0000853
3 thyroid carcinoma 31 HP:0002890
4 compensated hypothyroidism 31 HP:0008223
5 increased t3/t4 ratio 31 HP:0012559

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypothyroidism
euthyroid (compensated hypothyroidism)

Neoplasia:
thyroid cancer

Laboratory Abnormalities:
thyroid hormone coupling defect
excessive iodide trapping
high ft3/ft4 ratio

Head And Neck Neck:
goiter

Neurologic Central Nervous System:
mental retardation (if untreated in infancy)

Clinical features from OMIM:

274700

Drugs & Therapeutics for Thyroid Dyshormonogenesis 3

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 3

Genetic Tests for Thyroid Dyshormonogenesis 3

Anatomical Context for Thyroid Dyshormonogenesis 3

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 3:

40
Thyroid, Brain, Pituitary

Publications for Thyroid Dyshormonogenesis 3

Articles related to Thyroid Dyshormonogenesis 3:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. 56 6
17244789 2007
2
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. 56 6
16720658 2006
3
Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. 56 6
16403815 2006
4
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 56 6
16477365 2006
5
Naturally occurring mutations in the thyroglobulin gene. 56 6
16187910 2005
6
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. 56 6
16187918 2005
7
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. 56 6
14764776 2004
8
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. 56 6
1752952 1991
9
Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis. 56 6
2584351 1989
10
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. 6
15769978 2005
11
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism. 6
12915634 2003
12
Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene. 6
11484898 2001
13
A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. 6
10404833 1999
14
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. 6
10199792 1999
15
Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. 6
9588493 1998
16
Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis. 56
9398747 1997
17
A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality. 56
8626865 1996
18
A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. 6
7593451 1995
19
A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. 6
8325944 1993
20
Thyroglobulin gene point mutation associated with non-endemic simple goitre. 6
8094490 1993
21
Merging autosomal dominance and recessivity. 56
3661566 1987
22
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. 56
6088387 1984
23
Inherited disorders of thyroid metabolism. 56
6354701 1983
24
Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature. 56
7462393 1981
25
Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency. 56
272675 1978
26
Defective thyroglobulin export as a cause of congenital goitre. 56
1157342 1975
27
A goitrous subject with structural abnormality of thyroglobulin. 56
4628864 1972
28
Studies on the congenitally goitrous sheep. Iodoproteins of the goitre. 56
5419739 1970
29
Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin. 56
4163612 1967
30
THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM. 56
14167076 1964
31
Combining proteomics and lipid analysis to unravel Confidor stress response in Saccharomyces cerevisiae. 61
31696623 2020
32
The formation of hybrid complexes between isoenzymes of glyceraldehyde-3-phosphate dehydrogenase regulates its aggregation state, the glycolytic activity and sphingolipid status in Saccharomyces cerevisiae. 61
31743950 2019
33
Compensatory trans-regulatory alleles minimizing variation in TDH3 expression are common within Saccharomyces cerevisiae. 61
31636938 2019
34
Moonlighting proteins are variably exposed at the cell surfaces of Candida glabrata, Candida parapsilosis and Candida tropicalis under certain growth conditions. 61
31269895 2019
35
YHp as a highly stable, hyper-copy, hyper-expression plasmid constructed using a full 2-μm circle sequence in cir0 strains of Saccharomyces cerevisiae. 61
30537227 2019
36
Tunable Expression Systems for Orthogonal DNA Replication. 61
30408954 2018
37
Clioquinol induces G2/M cell cycle arrest through the up-regulation of TDH3 in Saccharomyces cerevisiae. 61
30031471 2018
38
Fitness effects of altering gene expression noise in Saccharomyces cerevisiae. 61
30124429 2018
39
The external face of Candida albicans: A proteomic view of the cell surface and the extracellular environment. 61
29223801 2018
40
Condition-specific promoter activities in Saccharomyces cerevisiae. 61
29631591 2018
41
The HMGB protein Ixr1 interacts with Ssn8 and Tdh3 involved in transcriptional regulation. 61
29438513 2018
42
Selection of yeast Saccharomyces cerevisiae promoters available for xylose cultivation and fermentation. 61
28869192 2018
43
Effects of mutation and selection on plasticity of a promoter activity in Saccharomyces cerevisiae. 61
29259117 2017
44
A reference-based protein degradation assay without global translation inhibitors. 61
29122887 2017
45
CRISPR-Cas9 mediated gene deletions in lager yeast Saccharomyces pastorianus. 61
29207996 2017
46
Codon-Resolution Analysis Reveals a Direct and Context-Dependent Impact of Individual Synonymous Mutations on mRNA Level. 61
28961875 2017
47
Fitness Effects of Cis-Regulatory Variants in the Saccharomyces cerevisiae TDH3 Promoter. 61
28961929 2017
48
Plant-Derived Transcription Factors for Orthologous Regulation of Gene Expression in the Yeast Saccharomyces cerevisiae. 61
28531348 2017
49
Evaluation and application of constitutive promoters for cutinase production by Saccharomyces cerevisiae. 61
28664516 2017
50
Development of intra-strain self-cloning procedure for breeding baker's yeast strains. 61
27829542 2017

Variations for Thyroid Dyshormonogenesis 3

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 3:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TG NM_003235.5(TG):c.4588C>T (p.Arg1530Ter)SNV Pathogenic 12691 rs121912646 8:133935642-133935642 8:132923397-132923397
2 TG TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-Tdeletion Pathogenic 12692
3 TG NM_003235.5(TG):c.3733T>C (p.Cys1245Arg)SNV Pathogenic 12693 rs121912647 8:133919031-133919031 8:132906786-132906786
4 TG NM_003235.5(TG):c.5986T>A (p.Cys1996Ser)SNV Pathogenic 12694 rs2076739 8:133984049-133984049 8:132971804-132971804
5 TG NM_003235.5(TG):c.886C>T (p.Arg296Ter)SNV Pathogenic 12695 rs121912648 8:133894854-133894854 8:132882609-132882609
6 TG NM_003235.5(TG):c.1143del (p.Tyr382fs)deletion Pathogenic 12699 8:133898760-133898760 8:132886515-132886515
7 TG NM_003235.5(TG):c.6725G>A (p.Arg2242His)SNV Pathogenic 12700 rs2069566 8:134030185-134030185 8:133017940-133017940
8 TG NM_003235.5(TG):c.6200-1G>CSNV Pathogenic 12701 8:133995594-133995594 8:132983349-132983349
9 TG NM_003235.5(TG):c.3229T>C (p.Cys1077Arg)SNV Pathogenic 12702 rs137854433 8:133911054-133911054 8:132898809-132898809
10 TG NM_003235.5(TG):c.7123G>A (p.Gly2375Arg)SNV Pathogenic 12703 rs137854434 8:134042152-134042152 8:133029907-133029907
11 TG NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr)SNV Pathogenic 12704 rs121912649 8:133980042-133980042 8:132967797-132967797
12 TG NM_003235.5(TG):c.7007G>A (p.Arg2336Gln)SNV Pathogenic 12705 rs121912650 8:134034366-134034366 8:133022121-133022121
13 TG NM_003235.5(TG):c.638+1G>ASNV Pathogenic 12706 8:133885467-133885467 8:132873222-132873222
14 TG NM_003235.5(TG):c.5184C>A (p.Cys1728Ter)SNV Pathogenic 208619 rs199599591 8:133953738-133953738 8:132941493-132941493
15 TG NM_003235.5(TG):c.275-3C>GSNV Pathogenic 12689 8:133883590-133883590 8:132871345-132871345
16 TG NM_003235.5(TG):c.266dup (p.Val90fs)duplication Pathogenic 436997 rs1554649344 8:133882061-133882062 8:132869816-132869817
17 TG NM_003235.5(TG):c.7021G>A (p.Gly2341Ser)SNV Pathogenic 545609 rs898275076 8:134034380-134034380 8:133022135-133022135
18 TG NM_003235.5(TG):c.638+5G>ASNV Conflicting interpretations of pathogenicity 218239 rs774274702 8:133885471-133885471 8:132873226-132873226
19 TG NM_003235.5(TG):c.3035C>T (p.Pro1012Leu)SNV Conflicting interpretations of pathogenicity 225486 rs115936153 8:133909927-133909927 8:132897682-132897682
20 TG NM_003235.5(TG):c.7753C>T (p.Arg2585Trp)SNV Conflicting interpretations of pathogenicity 632022 rs114211101 8:134125846-134125846 8:133113602-133113602
21 TG NM_003235.5(TG):c.229G>A (p.Gly77Ser)SNV Conflicting interpretations of pathogenicity 436996 rs142698837 8:133882026-133882026 8:132869781-132869781
22 TG NM_003235.5(TG):c.6379C>T (p.Arg2127Ter)SNV Conflicting interpretations of pathogenicity 286402 rs375424292 8:134024262-134024262 8:133012017-133012017
23 TG NM_003235.5(TG):c.2761+2T>GSNV Uncertain significance 361930 rs886062705 8:133900815-133900815 8:132888570-132888570
24 TG NM_003235.5(TG):c.5386C>T (p.Gln1796Ter)SNV Uncertain significance 361975 rs754658907 8:133961173-133961173 8:132948928-132948928
25 TG NM_003235.5(TG):c.8205del (p.Gln2736fs)deletion Uncertain significance 632023 rs758002273 8:134146934-134146934 8:133134690-133134690
26 TG NM_003235.5(TG):c.946G>A (p.Val316Ile)SNV Uncertain significance 802441 8:133895115-133895115 8:132882870-132882870
27 TG NM_003235.5(TG):c.4369C>G (p.Leu1457Val)SNV Uncertain significance 802442 8:133925501-133925501 8:132913256-132913256
28 TG NM_003235.5(TG):c.1333C>T (p.Arg445Ter)SNV Uncertain significance 632515 rs748309986 8:133898950-133898950 8:132886705-132886705
29 TG NM_003235.5(TG):c.1963C>T (p.Gln655Ter)SNV Uncertain significance 632020 rs771807370 8:133899580-133899580 8:132887335-132887335
30 TG NM_003235.5(TG):c.2359C>T (p.Arg787Ter)SNV Uncertain significance 632071 rs752966476 8:133900411-133900411 8:132888166-132888166
31 TG NM_003235.5(TG):c.4378G>A (p.Val1460Ile)SNV Uncertain significance 632072 rs199615848 8:133925510-133925510 8:132913265-132913265
32 TG NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter)SNV Uncertain significance 632021 rs1255388549 8:133981734-133981734 8:132969489-132969489
33 TG NM_003235.5(TG):c.2610G>T (p.Gln870His)SNV Benign 12690 rs2229843 8:133900662-133900662 8:132888417-132888417
34 TG NM_003235.5(TG):c.6056-22G>TSNV Benign 802443 8:133984821-133984821 8:132972576-132972576

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

73
# 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

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

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7 CNVD
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11 DGIdb
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