TDH3
MCID: THY056
MIFTS: 26

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 58 76 13 74
Tdh3 58 76
Congenital Hypothyroidism Due to Dyshormonogenesis Type 3 76
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 3 58
Genetic Defect in Thyroid Hormonogenesis Type 3 76
Thyroid Hormonogenesis, Genetic Defect in, 3 58
Chdh3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
thyroid dyshormonogenesis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 274700
MeSH 45 D003409
MedGen 43 C0342194
UMLS 74 C0342194

Summaries for Thyroid Dyshormonogenesis 3

OMIM : 58 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 glyceraldehyde-3-phosphate dehydrogenase deficiency and 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 : 76 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 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.3
2 thyroid dyshormonogenesis 1 10.1

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 3

Human phenotypes related to Thyroid Dyshormonogenesis 3:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 goiter 33 HP:0000853
3 thyroid carcinoma 33 HP:0002890
4 compensated hypothyroidism 33 HP:0008223
5 increased t3/t4 ratio 33 HP:0012559

Symptoms via clinical synopsis from OMIM:

58
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:

42
Thyroid, Brain, Pituitary

Publications for Thyroid Dyshormonogenesis 3

Articles related to Thyroid Dyshormonogenesis 3:

(show all 25)
# Title Authors Year
1
The HMGB protein Ixr1 interacts with Ssn8 and Tdh3 involved in transcriptional regulation. ( 29438513 )
2018
2
Clioquinol induces G2/M cell cycle arrest through the up-regulation of TDH3 in Saccharomyces cerevisiae. ( 30031471 )
2018
3
Fitness Effects of Cis-Regulatory Variants in the Saccharomyces cerevisiae TDH3 Promoter. ( 28961929 )
2017
4
Yeast Tdh3 (glyceraldehyde 3-phosphate dehydrogenase) is a Sir2-interacting factor that regulates transcriptional silencing and rDNA recombination. ( 24146631 )
2013
5
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. ( 17244789 )
2007
6
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. ( 16403815 )
2006
7
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. ( 16477365 )
2006
8
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. ( 16720658 )
2006
9
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. ( 15769978 )
2005
10
Naturally occurring mutations in the thyroglobulin gene. ( 16187910 )
2005
11
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. ( 16187918 )
2005
12
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. ( 14764776 )
2004
13
Candida albicans TDH3 gene promotes secretion of internal invertase when expressed in Saccharomyces cerevisiae as a glyceraldehyde-3-phosphate dehydrogenase-invertase fusion protein. ( 12794932 )
2003
14
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism. ( 12915634 )
2003
15
Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene. ( 11484898 )
2001
16
The glyceraldehyde-3-phosphate dehydrogenase polypeptides encoded by the Saccharomyces cerevisiae TDH1, TDH2 and TDH3 genes are also cell wall proteins. ( 11158358 )
2001
17
A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. ( 10404833 )
1999
18
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. ( 10199792 )
1999
19
Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. ( 9588493 )
1998
20
A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. ( 7593451 )
1995
21
The glucose-dependent transactivation activity of ABF1 on the expression of the TDH3 gene in yeast. ( 7614553 )
1995
22
A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. ( 8325944 )
1993
23
Thyroglobulin gene point mutation associated with non-endemic simple goitre. ( 8094490 )
1993
24
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. ( 1752952 )
1991
25
Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis. ( 2584351 )
1989

Variations for Thyroid Dyshormonogenesis 3

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

76
# 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 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 TG TG, 1-BP DEL, 1143C deletion Pathogenic
2 TG TG, IVS3, C-G, -3 single nucleotide variant Pathogenic
3 TG NM_003235.4(TG): c.2610G> T (p.Gln870His) single nucleotide variant Uncertain significance rs2229843 GRCh37 Chromosome 8, 133900662: 133900662
4 TG NM_003235.4(TG): c.2610G> T (p.Gln870His) single nucleotide variant Uncertain significance rs2229843 GRCh38 Chromosome 8, 132888417: 132888417
5 TG NM_003235.4(TG): c.4588C> T (p.Arg1530Ter) single nucleotide variant Pathogenic rs121912646 GRCh37 Chromosome 8, 133935642: 133935642
6 TG NM_003235.4(TG): c.4588C> T (p.Arg1530Ter) single nucleotide variant Pathogenic rs121912646 GRCh38 Chromosome 8, 132923397: 132923397
7 TG TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T deletion Pathogenic
8 TG NM_003235.4(TG): c.3733T> C (p.Cys1245Arg) single nucleotide variant Pathogenic rs121912647 GRCh37 Chromosome 8, 133919031: 133919031
9 TG NM_003235.4(TG): c.3733T> C (p.Cys1245Arg) single nucleotide variant Pathogenic rs121912647 GRCh38 Chromosome 8, 132906786: 132906786
10 TG NM_003235.4(TG): c.5986T> A (p.Cys1996Ser) single nucleotide variant Pathogenic rs2076739 GRCh37 Chromosome 8, 133984049: 133984049
11 TG NM_003235.4(TG): c.5986T> A (p.Cys1996Ser) single nucleotide variant Pathogenic rs2076739 GRCh38 Chromosome 8, 132971804: 132971804
12 TG NM_003235.4(TG): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs121912648 GRCh37 Chromosome 8, 133894854: 133894854
13 TG NM_003235.4(TG): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs121912648 GRCh38 Chromosome 8, 132882609: 132882609
14 TG NM_003235.4(TG): c.6725G> A (p.Arg2242His) single nucleotide variant Pathogenic rs2069566 GRCh37 Chromosome 8, 134030185: 134030185
15 TG NM_003235.4(TG): c.6725G> A (p.Arg2242His) single nucleotide variant Pathogenic rs2069566 GRCh38 Chromosome 8, 133017940: 133017940
16 TG TG, IVS34, G-C, -1 single nucleotide variant Pathogenic
17 TG NM_003235.4(TG): c.3229T> C (p.Cys1077Arg) single nucleotide variant Pathogenic rs137854433 GRCh37 Chromosome 8, 133911054: 133911054
18 TG NM_003235.4(TG): c.3229T> C (p.Cys1077Arg) single nucleotide variant Pathogenic rs137854433 GRCh38 Chromosome 8, 132898809: 132898809
19 TG NM_003235.4(TG): c.7123G> A (p.Gly2375Arg) single nucleotide variant Pathogenic rs137854434 GRCh37 Chromosome 8, 134042152: 134042152
20 TG NM_003235.4(TG): c.7123G> A (p.Gly2375Arg) single nucleotide variant Pathogenic rs137854434 GRCh38 Chromosome 8, 133029907: 133029907
21 TG NM_003235.4(TG): c.5690G> A (p.Cys1897Tyr) single nucleotide variant Pathogenic rs121912649 GRCh37 Chromosome 8, 133980042: 133980042
22 TG NM_003235.4(TG): c.5690G> A (p.Cys1897Tyr) single nucleotide variant Pathogenic rs121912649 GRCh38 Chromosome 8, 132967797: 132967797
23 TG NM_003235.4(TG): c.7007G> A (p.Arg2336Gln) single nucleotide variant Pathogenic rs121912650 GRCh37 Chromosome 8, 134034366: 134034366
24 TG NM_003235.4(TG): c.7007G> A (p.Arg2336Gln) single nucleotide variant Pathogenic rs121912650 GRCh38 Chromosome 8, 133022121: 133022121
25 TG TG, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
26 TG NM_003235.4(TG): c.5184C> A (p.Cys1728Ter) single nucleotide variant Pathogenic rs199599591 GRCh37 Chromosome 8, 133953738: 133953738
27 TG NM_003235.4(TG): c.5184C> A (p.Cys1728Ter) single nucleotide variant Pathogenic rs199599591 GRCh38 Chromosome 8, 132941493: 132941493
28 TG NM_003235.4(TG): c.638+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774274702 GRCh38 Chromosome 8, 132873226: 132873226
29 TG NM_003235.4(TG): c.638+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774274702 GRCh37 Chromosome 8, 133885471: 133885471
30 TG NM_003235.4(TG): c.3035C> T (p.Pro1012Leu) single nucleotide variant Uncertain significance rs115936153 GRCh37 Chromosome 8, 133909927: 133909927
31 TG NM_003235.4(TG): c.3035C> T (p.Pro1012Leu) single nucleotide variant Uncertain significance rs115936153 GRCh38 Chromosome 8, 132897682: 132897682
32 TG NM_003235.5(TG): c.229G> A (p.Gly77Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142698837 GRCh38 Chromosome 8, 132869781: 132869781
33 TG NM_003235.5(TG): c.229G> A (p.Gly77Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142698837 GRCh37 Chromosome 8, 133882026: 133882026
34 TG NM_003235.4(TG): c.266dup (p.Val90Cysfs) duplication Pathogenic rs1554649344 GRCh38 Chromosome 8, 132869818: 132869818
35 TG NM_003235.4(TG): c.266dup (p.Val90Cysfs) duplication Pathogenic rs1554649344 GRCh37 Chromosome 8, 133882063: 133882063
36 TG NM_003235.4(TG): c.7021G> A (p.Gly2341Ser) single nucleotide variant Pathogenic rs898275076 GRCh37 Chromosome 8, 134034380: 134034380
37 TG NM_003235.4(TG): c.7021G> A (p.Gly2341Ser) single nucleotide variant Pathogenic rs898275076 GRCh38 Chromosome 8, 133022135: 133022135

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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