TDH6
MCID: THY110
MIFTS: 20

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 58 76 30 6 74
Tdh6 58 76
Congenital Hypothyroidism Due to Dyshormonogenesis Type 6 76
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 6 58
Thyroid Hormonogenesis, Genetic Defect in, 6 58
Genetic Defect in Thyroid Hormonogenesis 6 76
Thyroid Dyshormonogenesis, Type 6 41
Chdh6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
heterozygotes have mild, transient hypothyroidism in infancy


HPO:

33
thyroid dyshormonogenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 607200
MeSH 45 D003409
ICD10 34 E03.0 E03.1
MedGen 43 C1846632
SNOMED-CT via HPO 70 190268003 217710005 258211005
UMLS 74 C1846632

Summaries for Thyroid Dyshormonogenesis 6

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 607200

Related Diseases for Thyroid Dyshormonogenesis 6

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 6

Human phenotypes related to Thyroid Dyshormonogenesis 6:

33
# Description HPO Frequency HPO Source Accession
1 congenital hypothyroidism 33 HP:0000851

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
low t4
elevated tsh
low t3
iodide organification defect
increased rai (radioactive iodine) uptake

Endocrine Features:
hypothyroidism, congenital

Clinical features from OMIM:

607200

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 30 DUOX2

Anatomical Context for Thyroid Dyshormonogenesis 6

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 6:

42
Thyroid

Publications for Thyroid Dyshormonogenesis 6

Articles related to Thyroid Dyshormonogenesis 6:

# Title Authors Year
1
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. ( 16134168 )
2005
2
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. ( 12110737 )
2002

Variations for Thyroid Dyshormonogenesis 6

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

76
# 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

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 6:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 DUOX2 NM_014080.4(DUOX2): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs119472026 GRCh37 Chromosome 15, 45401085: 45401085
2 DUOX2 NM_014080.4(DUOX2): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs119472026 GRCh38 Chromosome 15, 45108887: 45108887
3 DUOX2 NM_014080.4(DUOX2): c.2056C> T (p.Gln686Ter) single nucleotide variant Pathogenic rs119472027 GRCh37 Chromosome 15, 45398415: 45398415
4 DUOX2 NM_014080.4(DUOX2): c.2056C> T (p.Gln686Ter) single nucleotide variant Pathogenic rs119472027 GRCh38 Chromosome 15, 45106217: 45106217
5 DUOX2 NM_014080.4(DUOX2): c.2524C> T (p.Arg842Ter) single nucleotide variant Pathogenic rs119472028 GRCh37 Chromosome 15, 45396374: 45396374
6 DUOX2 NM_014080.4(DUOX2): c.2524C> T (p.Arg842Ter) single nucleotide variant Pathogenic rs119472028 GRCh38 Chromosome 15, 45104176: 45104176
7 DUOX2 NM_014080.4(DUOX2): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs119472029 GRCh37 Chromosome 15, 45402093: 45402093
8 DUOX2 NM_014080.4(DUOX2): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs119472029 GRCh38 Chromosome 15, 45109895: 45109895
9 DUOX2 NM_014080.4(DUOX2): c.3847+2T> C single nucleotide variant Likely pathogenic rs199752932 GRCh37 Chromosome 15, 45389434: 45389434
10 DUOX2 NM_014080.4(DUOX2): c.3847+2T> C single nucleotide variant Likely pathogenic rs199752932 GRCh38 Chromosome 15, 45097236: 45097236
11 DUOX2 NM_014080.4(DUOX2): c.2653C> T (p.Arg885Ter) single nucleotide variant Likely pathogenic rs199589510 GRCh38 Chromosome 15, 45103961: 45103961
12 DUOX2 NM_014080.4(DUOX2): c.2653C> T (p.Arg885Ter) single nucleotide variant Likely pathogenic rs199589510 GRCh37 Chromosome 15, 45396159: 45396159
13 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 GRCh37 Chromosome 15, 45400357: 45400357
14 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 GRCh38 Chromosome 15, 45108159: 45108159
15 DUOX2 NM_014080.4(DUOX2): c.3515+15T> A single nucleotide variant Benign rs269869 GRCh37 Chromosome 15, 45391566: 45391566
16 DUOX2 NM_014080.4(DUOX2): c.3515+15T> A single nucleotide variant Benign rs269869 GRCh38 Chromosome 15, 45099368: 45099368
17 DUOX2 NM_014080.4(DUOX2): c.3200C> T (p.Ser1067Leu) single nucleotide variant Benign rs269868 GRCh37 Chromosome 15, 45392075: 45392075
18 DUOX2 NM_014080.4(DUOX2): c.3200C> T (p.Ser1067Leu) single nucleotide variant Benign rs269868 GRCh38 Chromosome 15, 45099877: 45099877
19 DUOX2 NM_014080.4(DUOX2): c.1461G> C (p.Gly487=) single nucleotide variant Benign rs269860 GRCh37 Chromosome 15, 45400358: 45400358
20 DUOX2 NM_014080.4(DUOX2): c.1461G> C (p.Gly487=) single nucleotide variant Benign rs269860 GRCh38 Chromosome 15, 45108160: 45108160
21 DUOX2 NM_014080.4(DUOX2): c.413C> T (p.Pro138Leu) single nucleotide variant Benign rs2001616 GRCh38 Chromosome 15, 45111868: 45111868
22 DUOX2 NM_014080.4(DUOX2): c.413C> T (p.Pro138Leu) single nucleotide variant Benign rs2001616 GRCh37 Chromosome 15, 45404066: 45404066
23 DUOX2 NM_014080.4(DUOX2): c.602dupG (p.Gln202Thrfs) duplication Pathogenic/Likely pathogenic rs567500345 GRCh37 Chromosome 15, 45403695: 45403695
24 DUOX2 NM_014080.4(DUOX2): c.602dupG (p.Gln202Thrfs) duplication Pathogenic/Likely pathogenic rs567500345 GRCh38 Chromosome 15, 45111497: 45111497
25 DUOX2 NM_014080.4(DUOX2): c.1921G> A (p.Glu641Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs139161034 GRCh37 Chromosome 15, 45398750: 45398750
26 DUOX2 NM_014080.4(DUOX2): c.1921G> A (p.Glu641Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs139161034 GRCh38 Chromosome 15, 45106552: 45106552
27 DUOX2 NM_014080.4(DUOX2): c.3449A> G (p.Tyr1150Cys) single nucleotide variant Uncertain significance rs200000982 GRCh38 Chromosome 15, 45099449: 45099449
28 DUOX2 NM_014080.4(DUOX2): c.3449A> G (p.Tyr1150Cys) single nucleotide variant Uncertain significance rs200000982 GRCh37 Chromosome 15, 45391647: 45391647

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

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