MCID: THY110
MIFTS: 19

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 54 71 29 69
Congenital Hypothyroidism Due to Dyshormonogenesis Type 6 71
Genetic Defect in Thyroid Hormonogenesis 6 71
Chdh6 71
Tdh6 71

Characteristics:

OMIM:

54
Miscellaneous:
heterozygotes have mild, transient hypothyroidism in infancy

Inheritance:
autosomal recessive


HPO:

32
thyroid dyshormonogenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607200
MedGen 40 C1846632
MeSH 42 D003409
ICD10 33 E03.0 E03.1

Summaries for Thyroid Dyshormonogenesis 6

UniProtKB/Swiss-Prot : 71 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 congenital hypothyroidism due to dyshormonogenesis type 6, and has symptoms including congenital hypothyroidism An important gene associated with Thyroid Dyshormonogenesis 6 is DUOX2 (Dual Oxidase 2). Affiliated tissues include thyroid.

Description from OMIM: 607200

Related Diseases for Thyroid Dyshormonogenesis 6

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 6

Symptoms via clinical synopsis from OMIM:

54

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

Endocrine Features:
hypothyroidism, congenital


Clinical features from OMIM:

607200

Human phenotypes related to Thyroid Dyshormonogenesis 6:

32
id 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:

id Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 6 29

Anatomical Context for Thyroid Dyshormonogenesis 6

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 6:

39
Thyroid

Publications for Thyroid Dyshormonogenesis 6

Variations for Thyroid Dyshormonogenesis 6

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

71
id 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
id 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.2056C> T (p.Gln686Ter) single nucleotide variant Pathogenic rs119472027 GRCh37 Chromosome 15, 45398415: 45398415
3 DUOX2 NM_014080.4(DUOX2): c.2524C> T (p.Arg842Ter) single nucleotide variant Pathogenic rs119472028 GRCh37 Chromosome 15, 45396374: 45396374
4 DUOX2 NM_014080.4(DUOX2): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs119472029 GRCh37 Chromosome 15, 45402093: 45402093
5 DUOX2 NM_014080.4(DUOX2): c.3847+2T> C single nucleotide variant Likely pathogenic rs199752932 GRCh37 Chromosome 15, 45389434: 45389434
6 DUOX2 NM_014080.4(DUOX2): c.2895_2898delGTTC (p.Phe966Serfs) deletion Pathogenic rs530719719 GRCh37 Chromosome 15, 45393426: 45393429
7 DUOX2 NM_014080.4(DUOX2): c.2653C> T (p.Arg885Ter) single nucleotide variant Likely pathogenic rs199589510 GRCh38 Chromosome 15, 45103961: 45103961
8 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Likely pathogenic rs191759494 GRCh37 Chromosome 15, 45400357: 45400357
9 DUOX2 NM_014080.4(DUOX2): c.1588A> T (p.Lys530Ter) single nucleotide variant Pathogenic rs180671269 GRCh37 Chromosome 15, 45399648: 45399648

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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