MCID: THY061
MIFTS: 22

Thyroid Dyshormonogenesis 2a

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 2a

MalaCards integrated aliases for Thyroid Dyshormonogenesis 2a:

Name: Thyroid Dyshormonogenesis 2a 54 71 13
Deficiency of Iodide Peroxidase 29 69
Congenital Hypothyroidism Due to Dyshormonogenesis Type 2a 71
Genetic Defect in Thyroid Hormonogenesis 2a 71
Thyroid Hormone Organification Defect 2 71
Iodide Peroxidase Deficiency 71
Chdh2a 71
Tdh2a 71
Tiod 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
thyroid dyshormonogenesis 2a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 274500
MedGen 40 C1291299
MeSH 42 D003409
SNOMED-CT via HPO 65 258211005 40930008 3716002

Summaries for Thyroid Dyshormonogenesis 2a

OMIM : 54
Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; 188450) to form iodotyrosine. (274500)

MalaCards based summary : Thyroid Dyshormonogenesis 2a, is also known as deficiency of iodide peroxidase, and has symptoms including goiter, thyroid defect in oxidation and organification of iodide and hypothyroidism. An important gene associated with Thyroid Dyshormonogenesis 2a is TPO (Thyroid Peroxidase). Affiliated tissues include thyroid.

UniProtKB/Swiss-Prot : 71 Thyroid dyshormonogenesis 2A: A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete.

Related Diseases for Thyroid Dyshormonogenesis 2a

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 2a

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
thyroid peroxidase defect
tyrosine iodination defect
rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

Head And Neck- Neck:
goiter

Endocrine Features:
hypothyroidism
thyroid defect in oxidation and organification of iodide


Clinical features from OMIM:

274500

Human phenotypes related to Thyroid Dyshormonogenesis 2a:

32
id Description HPO Frequency HPO Source Accession
1 goiter 32 HP:0000853
2 thyroid defect in oxidation and organification of iodide 32 HP:0008263
3 hypothyroidism 32 HP:0000821
4 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Thyroid Dyshormonogenesis 2a

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 2a

Genetic Tests for Thyroid Dyshormonogenesis 2a

Genetic tests related to Thyroid Dyshormonogenesis 2a:

id Genetic test Affiliating Genes
1 Deficiency of Iodide Peroxidase 29

Anatomical Context for Thyroid Dyshormonogenesis 2a

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 2a:

39
Thyroid

Publications for Thyroid Dyshormonogenesis 2a

Variations for Thyroid Dyshormonogenesis 2a

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 2a:

71 (show all 24)
id Symbol AA change Variation ID SNP ID
1 TPO p.Tyr453Asp VAR_006060 rs121908083
2 TPO p.Glu799Lys VAR_006062 rs121908085
3 TPO p.Arg648Gln VAR_013138 rs121908086
4 TPO p.Ile447Phe VAR_015375 rs104893669
5 TPO p.Ala53Pro VAR_021622
6 TPO p.Asp240Asn VAR_021623
7 TPO p.Asn307Thr VAR_021624
8 TPO p.Ala326Thr VAR_021625 rs371367459
9 TPO p.Val433Met VAR_021626
10 TPO p.Leu458Pro VAR_021627
11 TPO p.Arg491His VAR_021628 rs201165648
12 TPO p.Gly493Ser VAR_021629 rs778515113
13 TPO p.Pro499Leu VAR_021630
14 TPO p.Trp527Cys VAR_021631 rs779434941
15 TPO p.Gln660Glu VAR_021632 rs121908088
16 TPO p.Arg665Trp VAR_021633 rs776742629
17 TPO p.Arg693Trp VAR_021634 rs121908087
18 TPO p.Gly771Arg VAR_021635 rs138931129
19 TPO p.Asp796Tyr VAR_021636
20 TPO p.Cys808Arg VAR_021637
21 TPO p.Glu378Lys VAR_025784
22 TPO p.Gly533Cys VAR_027229
23 TPO p.Gly590Ser VAR_027231 rs121908084
24 TPO p.Val839Ile VAR_027235 rs146351101

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 2a:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 TPO TPO, 1-BP INS, 2505C insertion Pathogenic
2 TPO TPO, 4-BP INS, NT1227 insertion Pathogenic
3 TPO TPO, 20-BP DUP duplication Pathogenic
4 TPO NM_000547.5(TPO): c.1618C> T (p.Arg540Ter) single nucleotide variant Pathogenic rs121908082 GRCh37 Chromosome 2, 1491613: 1491613
5 TPO NM_000547.5(TPO): c.1339A> T (p.Ile447Phe) single nucleotide variant Pathogenic rs104893669 GRCh37 Chromosome 2, 1488368: 1488368
6 TPO NM_000547.5(TPO): c.1357T> G (p.Tyr453Asp) single nucleotide variant Pathogenic rs121908083 GRCh37 Chromosome 2, 1488386: 1488386
7 TPO NM_000547.5(TPO): c.1768G> A (p.Gly590Ser) single nucleotide variant Pathogenic rs121908084 GRCh37 Chromosome 2, 1491763: 1491763
8 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh37 Chromosome 2, 1507728: 1507728
9 TPO NM_000547.5(TPO): c.1943G> A (p.Arg648Gln) single nucleotide variant Pathogenic rs121908086 GRCh37 Chromosome 2, 1497748: 1497748
10 TPO TPO, 1-BP DEL, 2512T deletion Pathogenic
11 TPO TPO, 1-BP INS, 2268T insertion Pathogenic
12 TPO NM_000547.5(TPO): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs121908087 GRCh37 Chromosome 2, 1499831: 1499831
13 TPO TPO, 1-BP DEL, 1496C deletion Pathogenic
14 TPO NM_000547.5(TPO): c.1978C> G (p.Gln660Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121908088 GRCh37 Chromosome 2, 1497783: 1497783
15 TPO TPO, 1-BP INS, 1955T insertion Pathogenic
16 TPO NM_000547.5(TPO): c.1994G> A (p.Arg665Gln) single nucleotide variant Pathogenic rs140124953 GRCh37 Chromosome 2, 1497799: 1497799

Expression for Thyroid Dyshormonogenesis 2a

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 2a.

Pathways for Thyroid Dyshormonogenesis 2a

GO Terms for Thyroid Dyshormonogenesis 2a

Sources for Thyroid Dyshormonogenesis 2a

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
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
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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