TDH6
MCID: THY110
MIFTS: 26

Thyroid Dyshormonogenesis 6 (TDH6)

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

Aliases & Classifications for Thyroid Dyshormonogenesis 6

MalaCards integrated aliases for Thyroid Dyshormonogenesis 6:

Name: Thyroid Dyshormonogenesis 6 57 12 72 29 6 70
Tdh6 57 12 72
Genetic Defect in Thyroid Hormonogenesis 6 12 72
Congenital Hypothyroidism Due to Dyshormonogenesis Type 6 72
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 6 57
Thyroid Hormonogenesis, Genetic Defect in, 6 57
Thyroid Dyshormonogenesis, Type 6 39
Chdh6 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
heterozygotes have mild, transient hypothyroidism in infancy


HPO:

31
thyroid dyshormonogenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112189
OMIM® 57 607200
MeSH 44 D003409
MedGen 41 C1846632
SNOMED-CT via HPO 68 190268003 217710005 258211005
UMLS 70 C1846632

Summaries for Thyroid Dyshormonogenesis 6

UniProtKB/Swiss-Prot : 72 Thyroid dyshormonogenesis 6: A disorder due to a defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete.

MalaCards based summary : Thyroid Dyshormonogenesis 6, is also known as tdh6. An important gene associated with Thyroid Dyshormonogenesis 6 is DUOX2 (Dual Oxidase 2). Affiliated tissues include thyroid, and related phenotype is congenital hypothyroidism.

Disease Ontology : 12 A familial thyroid dyshormonogenesis that has material basis in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1.

More information from OMIM: 607200

Related Diseases for Thyroid Dyshormonogenesis 6

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 6

Human phenotypes related to Thyroid Dyshormonogenesis 6:

31
# Description HPO Frequency HPO Source Accession
1 congenital hypothyroidism 31 HP:0000851

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
hypothyroidism, congenital

Laboratory Abnormalities:
elevated tsh
low t4
low t3
iodide organification defect
increased rai (radioactive iodine) uptake

Clinical features from OMIM®:

607200 (Updated 20-May-2021)

Drugs & Therapeutics for Thyroid Dyshormonogenesis 6

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 6

Genetic Tests for Thyroid Dyshormonogenesis 6

Genetic tests related to Thyroid Dyshormonogenesis 6:

# Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 6 29 DUOX2

Anatomical Context for Thyroid Dyshormonogenesis 6

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 6:

40
Thyroid

Publications for Thyroid Dyshormonogenesis 6

Articles related to Thyroid Dyshormonogenesis 6:

(show all 19)
# Title Authors PMID Year
1
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. 57 6
16134168 2005
2
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 57 6
12110737 2002
3
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. 6
30154845 2018
4
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. 6
28541007 2017
5
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 6
27821020 2017
6
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. 6
27498126 2016
7
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. 6
27557340 2016
8
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 6
27108200 2016
9
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. 6
26742565 2016
10
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 6
26709262 2016
11
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 6
26349762 2015
12
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 6
24423310 2014
13
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 6
25248169 2014
14
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. 6
23457309 2013
15
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 6
21900383 2011
16
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 6
18765513 2008
17
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. 6
17121535 2006
18
Genetics of congenital hypothyroidism. 57
15863666 2005
19
Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias. 61
32109542 2020

Variations for Thyroid Dyshormonogenesis 6

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 6:

6 (show top 50) (show all 226)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DUOX2 NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) SNV Pathogenic 4062 rs119472026 GRCh37: 15:45401085-45401085
GRCh38: 15:45108887-45108887
2 DUOX2 NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) SNV Pathogenic 4063 rs119472027 GRCh37: 15:45398415-45398415
GRCh38: 15:45106217-45106217
3 DUOX2 NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) SNV Pathogenic 4064 rs119472028 GRCh37: 15:45396374-45396374
GRCh38: 15:45104176-45104176
4 DUOX2 NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) SNV Pathogenic 4065 rs119472029 GRCh37: 15:45402093-45402093
GRCh38: 15:45109895-45109895
5 DUOX2 NM_001363711.2(DUOX2):c.513+1G>C SNV Pathogenic 638519 rs752635135 GRCh37: 15:45403965-45403965
GRCh38: 15:45111767-45111767
6 DUOX2 NM_001363711.2(DUOX2):c.1398+2T>C SNV Pathogenic 998311 GRCh37: 15:45400985-45400985
GRCh38: 15:45108787-45108787
7 DUOX2 NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) SNV Pathogenic 1033258 GRCh37: 15:45398798-45398798
GRCh38: 15:45106600-45106600
8 DUOX2 NM_001363711.2(DUOX2):c.2887C>T (p.Arg963Ter) SNV Pathogenic 1033259 GRCh37: 15:45393437-45393437
GRCh38: 15:45101239-45101239
9 DUOX2 NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) SNV Pathogenic 287079 rs180671269 GRCh37: 15:45399648-45399648
GRCh38: 15:45107450-45107450
10 DUOX2 NM_001363711.2(DUOX2):c.4081-1G>A SNV Pathogenic/Likely pathogenic 984928 GRCh37: 15:45387794-45387794
GRCh38: 15:45095596-45095596
11 DUOX2 NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) SNV Pathogenic/Likely pathogenic 225342 rs191759494 GRCh37: 15:45400357-45400357
GRCh38: 15:45108159-45108159
12 DUOX2 NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) Duplication Pathogenic/Likely pathogenic 279800 rs567500345 GRCh37: 15:45403694-45403695
GRCh38: 15:45111496-45111497
13 DUOX2 NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) Deletion Likely pathogenic 420593 rs748194265 GRCh37: 15:45391935-45391935
GRCh38: 15:45099737-45099737
14 DUOX2 NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) SNV Likely pathogenic 617815 rs181461079 GRCh37: 15:45396158-45396158
GRCh38: 15:45103960-45103960
15 DUOX2 NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) SNV Likely pathogenic 617814 rs748793969 GRCh37: 15:45398525-45398525
GRCh38: 15:45106327-45106327
16 DUOX2 NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) Deletion Likely pathogenic 631734 rs200592893 GRCh37: 15:45398788-45398788
GRCh38: 15:45106590-45106590
17 DUOX2 NM_001363711.2(DUOX2):c.3847+2T>C SNV Likely pathogenic 189228 rs199752932 GRCh37: 15:45389434-45389434
GRCh38: 15:45097236-45097236
18 DUOX2 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) Deletion Likely pathogenic 189229 rs530719719 GRCh37: 15:45393426-45393429
GRCh38: 15:45101228-45101231
19 DUOX2 NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) Deletion Likely pathogenic 633197 rs1566978577 GRCh37: 15:45404127-45404134
GRCh38: 15:45111929-45111936
20 DUOX2 NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) SNV Likely pathogenic 915459 GRCh37: 15:45392317-45392317
GRCh38: 15:45100119-45100119
21 DUOX2 NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) SNV Likely pathogenic 915462 GRCh37: 15:45401075-45401075
GRCh38: 15:45108877-45108877
22 DUOX2 NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) SNV Likely pathogenic 915463 GRCh37: 15:45402677-45402677
GRCh38: 15:45110479-45110479
23 DUOX2 NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) SNV Likely pathogenic 917856 GRCh37: 15:45388026-45388026
GRCh38: 15:45095828-45095828
24 DUOX2 NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) SNV Conflicting interpretations of pathogenicity 631731 rs368975704 GRCh37: 15:45392025-45392025
GRCh38: 15:45099827-45099827
25 DUOX2 NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) SNV Conflicting interpretations of pathogenicity 225343 rs199589510 GRCh37: 15:45396159-45396159
GRCh38: 15:45103961-45103961
26 DUOX2 NM_001363711.2(DUOX2):c.513+8G>C SNV Uncertain significance 316185 rs886051196 GRCh37: 15:45403958-45403958
GRCh38: 15:45111760-45111760
27 DUOX2 NM_001363711.2(DUOX2):c.953C>A (p.Pro318His) SNV Uncertain significance 316178 rs555083063 GRCh37: 15:45402713-45402713
GRCh38: 15:45110515-45110515
28 DUOX2 NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) SNV Uncertain significance 316141 rs140035596 GRCh37: 15:45388057-45388057
GRCh38: 15:45095859-45095859
29 DUOX2 NM_001363711.2(DUOX2):c.202G>T (p.Gly68Cys) SNV Uncertain significance 316194 rs886051198 GRCh37: 15:45404875-45404875
GRCh38: 15:45112677-45112677
30 DUOX2 NM_001363711.2(DUOX2):c.2148+10G>A SNV Uncertain significance 316172 rs745702141 GRCh37: 15:45398313-45398313
GRCh38: 15:45106115-45106115
31 DUOX2 NM_001363711.2(DUOX2):c.4408C>A (p.Arg1470=) SNV Uncertain significance 316137 rs200785525 GRCh37: 15:45386877-45386877
GRCh38: 15:45094679-45094679
32 DUOX2 NM_001363711.2(DUOX2):c.4572G>T (p.Lys1524Asn) SNV Uncertain significance 316135 rs760374437 GRCh37: 15:45386423-45386423
GRCh38: 15:45094225-45094225
33 DUOX2 NM_001363711.2(DUOX2):c.326-5C>T SNV Uncertain significance 316190 rs200837051 GRCh37: 15:45404158-45404158
GRCh38: 15:45111960-45111960
34 DUOX2 NM_001363711.2(DUOX2):c.*1203C>T SNV Uncertain significance 884888 GRCh37: 15:45385145-45385145
GRCh38: 15:45092947-45092947
35 DUOX2 NM_001363711.2(DUOX2):c.*1145C>T SNV Uncertain significance 884889 GRCh37: 15:45385203-45385203
GRCh38: 15:45093005-45093005
36 DUOX2 NM_001363711.2(DUOX2):c.*1064G>A SNV Uncertain significance 884890 GRCh37: 15:45385284-45385284
GRCh38: 15:45093086-45093086
37 DUOX2 NM_001363711.2(DUOX2):c.*857G>A SNV Uncertain significance 884891 GRCh37: 15:45385491-45385491
GRCh38: 15:45093293-45093293
38 DUOX2 NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys) SNV Uncertain significance 884961 GRCh37: 15:45386811-45386811
GRCh38: 15:45094613-45094613
39 DUOX2 NM_001363711.2(DUOX2):c.4433G>A (p.Arg1478Gln) SNV Uncertain significance 884962 GRCh37: 15:45386852-45386852
GRCh38: 15:45094654-45094654
40 DUOX2 NM_001363711.2(DUOX2):c.4409G>A (p.Arg1470Gln) SNV Uncertain significance 884963 GRCh37: 15:45386876-45386876
GRCh38: 15:45094678-45094678
41 DUOX2 NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp) SNV Uncertain significance 884964 GRCh37: 15:45386877-45386877
GRCh38: 15:45094679-45094679
42 DUOX2 NM_001363711.2(DUOX2):c.4405G>A (p.Glu1469Lys) SNV Uncertain significance 884965 GRCh37: 15:45386880-45386880
GRCh38: 15:45094682-45094682
43 DUOX2 NM_001363711.2(DUOX2):c.4396-15C>T SNV Uncertain significance 884966 GRCh37: 15:45386904-45386904
GRCh38: 15:45094706-45094706
44 DUOX2 NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) SNV Uncertain significance 522013 rs138971379 GRCh37: 15:45390213-45390213
GRCh38: 15:45098015-45098015
45 DUOX2 NM_001363711.2(DUOX2):c.3540T>C (p.Tyr1180=) SNV Uncertain significance 748937 rs745999464 GRCh37: 15:45390232-45390232
GRCh38: 15:45098034-45098034
46 DUOX2 NM_001363711.2(DUOX2):c.3515+8C>G SNV Uncertain significance 885032 GRCh37: 15:45391573-45391573
GRCh38: 15:45099375-45099375
47 DUOX2 NM_001363711.2(DUOX2):c.2634C>T (p.Asp878=) SNV Uncertain significance 885090 GRCh37: 15:45396178-45396178
GRCh38: 15:45103980-45103980
48 DUOX2 NM_001363711.2(DUOX2):c.2609A>G (p.Asp870Gly) SNV Uncertain significance 885091 GRCh37: 15:45396203-45396203
GRCh38: 15:45104005-45104005
49 DUOX2 NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) SNV Uncertain significance 885092 GRCh37: 15:45396215-45396215
GRCh38: 15:45104017-45104017
50 DUOX2 NM_001363711.2(DUOX2):c.2583T>A (p.Arg861=) SNV Uncertain significance 885093 GRCh37: 15:45396229-45396229
GRCh38: 15:45104031-45104031

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 6:

72
# Symbol AA change Variation ID SNP ID
1 DUOX2 p.Gln36His VAR_025323
2 DUOX2 p.Arg376Trp VAR_025325 rs119472029
3 DUOX2 p.Gly1518Ser VAR_064619 rs368512412

Expression for Thyroid Dyshormonogenesis 6

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 6.

Pathways for Thyroid Dyshormonogenesis 6

GO Terms for Thyroid Dyshormonogenesis 6

Sources for Thyroid Dyshormonogenesis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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