TDH1
MCID: THY071
MIFTS: 29

Thyroid Dyshormonogenesis 1 (TDH1)

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

Aliases & Classifications for Thyroid Dyshormonogenesis 1

MalaCards integrated aliases for Thyroid Dyshormonogenesis 1:

Name: Thyroid Dyshormonogenesis 1 56 73 29 13 6 71
Tdh1 56 73
Congenital Hypothyroidism Due to Dyshormonogenesis Type 1 73
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 1 56
Iodine Accumulation, Transport, or Trapping Defect 56
Iodine Accumulation, Transport or Trapping Defect 73
Thyroid Hormonogenesis, Genetic Defect in, 1 56
Genetic Defect in Thyroid Hormonogenesis 1 73
Thyroid Dyshormonogenesis, Type 1 39
Chdh1 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
hypothyroidism is less severe in individuals with high dietary iodine intake
preferably treated with iodine supplementation rather than thyroid hormone replacement


HPO:

31
thyroid dyshormonogenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 1

OMIM : 56 Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation. Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. (274400)

MalaCards based summary : Thyroid Dyshormonogenesis 1, also known as tdh1, is related to pendred syndrome and thyroid dyshormonogenesis 3, and has symptoms including constipation and dry skin. An important gene associated with Thyroid Dyshormonogenesis 1 is SLC5A5 (Solute Carrier Family 5 Member 5). Affiliated tissues include thyroid and skin, and related phenotypes are intellectual disability and constipation

UniProtKB/Swiss-Prot : 73 Thyroid dyshormonogenesis 1: A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.

Related Diseases for Thyroid Dyshormonogenesis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pendred syndrome 11.3
2 thyroid dyshormonogenesis 3 10.4

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 1

Human phenotypes related to Thyroid Dyshormonogenesis 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 constipation 31 HP:0002019
3 hypothyroidism 31 HP:0000821
4 macroglossia 31 HP:0000158
5 umbilical hernia 31 HP:0001537
6 dry skin 31 HP:0000958
7 growth delay 31 HP:0001510
8 goiter 31 HP:0000853
9 lethargy 31 HP:0001254

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
constipation

Skin Nails Hair Skin:
dry skin

Head And Neck Mouth:
macroglossia (not always present)

Abdomen External Features:
umbilical hernia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
lethargy (when taken off of medication)

Endocrine Features:
hypothyroidism
thyroid iodine accumulation defect

Growth Other:
growth retardation

Head And Neck Neck:
goiter (not always present)
thyroid nodules, hyperplastic and adenomatous

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

Laboratory Abnormalities:
low t4
low rai (radioactive iodine) uptake

Clinical features from OMIM:

274400

UMLS symptoms related to Thyroid Dyshormonogenesis 1:


constipation, dry skin

Drugs & Therapeutics for Thyroid Dyshormonogenesis 1

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 1

Genetic Tests for Thyroid Dyshormonogenesis 1

Genetic tests related to Thyroid Dyshormonogenesis 1:

# Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 1 29 SLC5A5

Anatomical Context for Thyroid Dyshormonogenesis 1

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 1:

40
Thyroid, Skin

Publications for Thyroid Dyshormonogenesis 1

Articles related to Thyroid Dyshormonogenesis 1:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 56 6
9745458 1998
2
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 56 6
9171822 1997
3
Morphological abnormalities in children with thyroidal congenital hypothyroidism. 56
19367618 2009
4
Naturally occurring mutations in the thyroglobulin gene. 56
16187910 2005
5
Genetics of congenital hypothyroidism. 56
15863666 2005
6
A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect. 6
12161518 2002
7
A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 6
10487695 1999
8
High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. 6
9814502 1998
9
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect. 6
9709973 1998
10
Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. 6
9657379 1998
11
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. 6
9486973 1998
12
A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. 6
9398697 1997
13
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. 6
9388506 1997
14
Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment. 6
3451231 1987
15
Congenital hypothyroidism caused by defective iodide transport. 6
3998954 1985
16
Five cases of absence of iodide concentrating mechanism. 56
576528 1977
17
Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism. 56
5051359 1972
18
GOITROUS MYXEDEMA DUE TO IODIDE TRAPPING DEFECT. 56
14044820 1963
19
Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism. 56
13833727 1960
20
Combining proteomics and lipid analysis to unravel Confidor stress response in Saccharomyces cerevisiae. 61
31696623 2020
21
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
22
QsvR integrates into quorum sensing circuit to control Vibrio parahaemolyticus virulence. 61
30623553 2019
23
Clioquinol induces G2/M cell cycle arrest through the up-regulation of TDH3 in Saccharomyces cerevisiae. 61
30031471 2018
24
Cell-free production of pore forming toxins: Functional analysis of thermostable direct hemolysin from Vibrio parahaemolyticus. 61
29497355 2018
25
Selection of yeast Saccharomyces cerevisiae promoters available for xylose cultivation and fermentation. 61
28869192 2018
26
Vibrio parahaemolyticus CalR down regulates the thermostable direct hemolysin (TDH) gene transcription and thereby inhibits hemolytic activity. 61
28268179 2017
27
Changes in global gene expression of Vibrio parahaemolyticus induced by cold- and heat-stress. 61
26498286 2015
28
Development of a colony hybridization method for the enumeration of total and potentially enteropathogenic Vibrio parahaemolyticus in shellfish. 61
24984219 2014
29
On the role of GAPDH isoenzymes during pentose fermentation in engineered Saccharomyces cerevisiae. 61
24456572 2014
30
Identification of novel GAPDH-derived antimicrobial peptides secreted by Saccharomyces cerevisiae and involved in wine microbial interactions. 61
24292082 2014
31
[Effectiveness of expression of tdh gene of Vibrio parahaemolyticus depends on two point mutations in promoter region]. 61
23516897 2012
32
Exploring the genetic control of glycolytic oscillations in Saccharomyces cerevisiae. 61
22920924 2012
33
Engineering Yarrowia lipolytica to express secretory invertase with strong FBA1IN promoter. 61
22222800 2012
34
Construction of a beta-glucosidase expression system using the multistress-tolerant yeast Issatchenkia orientalis. 61
20467739 2010
35
Two-component signaling to the stress MAP kinase cascade in fission yeast. 61
20946853 2010
36
Evolutionarily engineered ethanologenic yeast detoxifies lignocellulosic biomass conversion inhibitors by reprogrammed pathways. 61
19517136 2009
37
Interfering with glycolysis causes Sir2-dependent hyper-recombination of Saccharomyces cerevisiae plasmids. 61
19390637 2009
38
Glycolytic enzyme GAPDH promotes peroxide stress signaling through multistep phosphorelay to a MAPK cascade. 61
18406331 2008
39
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 61
18029453 2008
40
Multiple modes of chromatin configuration at natural meiotic recombination hot spots in fission yeast. 61
17827346 2007
41
Transcriptional regulation of phospholipid biosynthesis is linked to fatty acid metabolism by an acyl-CoA-binding-protein-dependent mechanism in Saccharomyces cerevisiae. 61
17593018 2007
42
Transcriptional profiles of the response to ketoconazole and amphotericin B in Trichophyton rubrum. 61
17060531 2007
43
mRNA detection by reverse transcription-PCR for monitoring viability and potential virulence in a pathogenic strain of Vibrio parahaemolyticus in viable but nonculturable state. 61
15752342 2005
44
NADH-reductive stress in Saccharomyces cerevisiae induces the expression of the minor isoform of glyceraldehyde-3-phosphate dehydrogenase (TDH1). 61
14652693 2004
45
The urease gene cluster of Vibrio parahaemolyticus does not influence the expression of the thermostable direct hemolysin (TDH) gene or the TDH-related hemolysin gene. 61
12725294 2003
46
Optimal growth and ethanol production from xylose by recombinant Saccharomyces cerevisiae require moderate D-xylulokinase activity. 61
12514033 2003
47
Interaction of the GTS1 gene product with glyceraldehyde- 3-phosphate dehydrogenase 1 required for the maintenance of the metabolic oscillations of the yeast Saccharomyces cerevisiae. 61
12135496 2002
48
Parallel and comparative analysis of the proteome and transcriptome of sorbic acid-stressed Saccharomyces cerevisiae. 61
11746603 2001
49
The glyceraldehyde-3-phosphate dehydrogenase polypeptides encoded by the Saccharomyces cerevisiae TDH1, TDH2 and TDH3 genes are also cell wall proteins. 61
11158358 2001
50
Srb7p is essential for the activation of a subset of genes. 61
11056220 2000

Variations for Thyroid Dyshormonogenesis 1

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC5A5 NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter)SNV Pathogenic 7665 rs121909175 19:17988649-17988649 19:17877840-17877840
2 SLC5A5 NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro)SNV Pathogenic 7664 rs121909174 19:17992770-17992770 19:17881961-17881961
3 SLC5A5 NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)SNV Pathogenic 7666 rs121909176 19:17988632-17988632 19:17877823-17877823
4 SLC5A5 NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter)SNV Pathogenic 7667 rs121909177 19:17999206-17999206 19:17888397-17888397
5 SLC5A5 NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg)SNV Pathogenic 7668 rs121909178 19:17983405-17983405 19:17872596-17872596
6 SLC5A5 NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu)SNV Pathogenic 7669 rs121909179 19:17999241-17999241 19:17888432-17888432
7 SLC5A5 NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)SNV Pathogenic 7670 rs121909180 19:17992969-17992969 19:17882160-17882160
8 SLC5A5 SLC5A5, EX3-7DELdeletion Pathogenic 7671
9 SLC5A5 NM_000453.3(SLC5A5):c.-54C>TSNV Uncertain significance 803544 19:17983075-17983075 19:17872266-17872266
10 SLC5A5 NM_000453.3(SLC5A5):c.1652-9G>ASNV Benign/Likely benign 256199 rs4808708 19:18001686-18001686 19:17890877-17890877

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 1:

73
# Symbol AA change Variation ID SNP ID
1 SLC5A5 p.Gly93Arg VAR_010263 rs121909178
2 SLC5A5 p.Gln267Glu VAR_010265 rs121909176
3 SLC5A5 p.Thr354Pro VAR_010266 rs121909174
4 SLC5A5 p.Gly395Arg VAR_010267 rs121909180
5 SLC5A5 p.Gly543Glu VAR_010269 rs121909179

Expression for Thyroid Dyshormonogenesis 1

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 1.

Pathways for Thyroid Dyshormonogenesis 1

GO Terms for Thyroid Dyshormonogenesis 1

Sources for Thyroid Dyshormonogenesis 1

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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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