MCID: THY110
MIFTS: 18

Thyroid Dyshormonogenesis 6

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 6

MalaCards integrated aliases for Thyroid Dyshormonogenesis 6:

Name: Thyroid Dyshormonogenesis 6 57 75 29 6 73
Tdh6 57 75
Congenital Hypothyroidism Due to Dyshormonogenesis Type 6 75
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 6 57
Thyroid Hormonogenesis, Genetic Defect in, 6 57
Genetic Defect in Thyroid Hormonogenesis 6 75
Thyroid Dyshormonogenesis, Type 6 40
Chdh6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
heterozygotes have mild, transient hypothyroidism in infancy


HPO:

32
thyroid dyshormonogenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607200
MedGen 42 C1846632
MeSH 44 D003409
ICD10 33 E03.0 E03.1
SNOMED-CT via HPO 69 258211005 190268003 217710005
UMLS 73 C1846632

Summaries for Thyroid Dyshormonogenesis 6

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypothyroidism, congenital

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


Clinical features from OMIM:

607200

Human phenotypes related to Thyroid Dyshormonogenesis 6:

32
# Description HPO Frequency HPO Source Accession
1 congenital hypothyroidism 32 HP:0000851

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:

41
Thyroid

Publications for Thyroid Dyshormonogenesis 6

Variations for Thyroid Dyshormonogenesis 6

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

75
# 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 27)
# 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.1588A> T (p.Lys530Ter) single nucleotide variant Pathogenic rs180671269 GRCh37 Chromosome 15, 45399648: 45399648
26 DUOX2 NM_014080.4(DUOX2): c.1588A> T (p.Lys530Ter) single nucleotide variant Pathogenic rs180671269 GRCh38 Chromosome 15, 45107450: 45107450
27 DUOX2 duplication Pathogenic GRCh37 Chromosome 15, 45402116: 45402134

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....