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 53 71 28 69
Tdh6 53 71
Congenital Hypothyroidism Due to Dyshormonogenesis Type 6 71
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 6 53
Thyroid Hormonogenesis, Genetic Defect in, 6 53
Genetic Defect in Thyroid Hormonogenesis 6 71
Chdh6 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
heterozygotes have mild, transient hypothyroidism in infancy


HPO:

31
thyroid dyshormonogenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 607200
MedGen 39 C1846632
MeSH 41 D003409
ICD10 32 E03.0 E03.1
SNOMED-CT via HPO 65 258211005 190268003 217710005
UMLS 69 C1846632

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 tdh6, 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 congenital hypothyroidism 31 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 28 DUOX2

Anatomical Context for Thyroid Dyshormonogenesis 6

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 6:

38
Thyroid

Publications for Thyroid Dyshormonogenesis 6

Variations for Thyroid Dyshormonogenesis 6

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 DUOX2 NM_014080.4(DUOX2): c.3847+2T> C single nucleotide variant Likely pathogenic rs199752932 GRCh37 Chromosome 15, 45389434: 45389434
2 DUOX2 NM_014080.4(DUOX2): c.2895_2898delGTTC (p.Phe966Serfs) deletion Pathogenic rs530719719 GRCh37 Chromosome 15, 45393426: 45393429
3 DUOX2 NM_014080.4(DUOX2): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs119472026 GRCh37 Chromosome 15, 45401085: 45401085
4 DUOX2 NM_014080.4(DUOX2): c.2056C> T (p.Gln686Ter) single nucleotide variant Pathogenic rs119472027 GRCh37 Chromosome 15, 45398415: 45398415
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.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs119472029 GRCh37 Chromosome 15, 45402093: 45402093
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....