MCID: THY061
MIFTS: 25

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 57 75 13
Deficiency of Iodide Peroxidase 29 6 73
Iodide Peroxidase Deficiency 57 75 40
Tdh2a 57 75
Congenital Hypothyroidism Due to Dyshormonogenesis Type 2a 75
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2a 57
Thyroid Hormonogenesis, Genetic Defect in, 2a 57
Genetic Defect in Thyroid Hormonogenesis 2a 75
Thyroid Hormone Organification Defect 2 75
Thyroid Peroxidase Deficiency 57
Thyroid Peroxidase 13
Chdh2a 75
Tiod 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
thyroid dyshormonogenesis 2a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 274500
MedGen 42 C1291299
MeSH 44 D003409
SNOMED-CT via HPO 69 258211005 40930008 3716002
UMLS 73 C1291299

Summaries for Thyroid Dyshormonogenesis 2a

OMIM : 57 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, also known as deficiency of iodide peroxidase, is related to eosinophil peroxidase deficiency and autoimmune polyendocrine syndrome, type ii. An important gene associated with Thyroid Dyshormonogenesis 2a is TPO (Thyroid Peroxidase). Affiliated tissues include thyroid, and related phenotypes are hypothyroidism and goiter

UniProtKB/Swiss-Prot : 75 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

Diseases in the Thyroid Dyshormonogenesis 2a family:

Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4 Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6 Familial Thyroid Dyshormonogenesis

Diseases related to Thyroid Dyshormonogenesis 2a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 eosinophil peroxidase deficiency 11.1
2 autoimmune polyendocrine syndrome, type ii 11.1
3 thyroiditis 9.9

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 2a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
goiter

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

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


Clinical features from OMIM:

274500

Human phenotypes related to Thyroid Dyshormonogenesis 2a:

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

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:

# Genetic test Affiliating Genes
1 Deficiency of Iodide Peroxidase 29 TPO

Anatomical Context for Thyroid Dyshormonogenesis 2a

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 2a:

41
Thyroid

Publications for Thyroid Dyshormonogenesis 2a

Articles related to Thyroid Dyshormonogenesis 2a:

# Title Authors Year
1
Novel human pathological mutations. Gene symbol: TPO. Disease: Thyroid peroxidase deficiency. ( 20108397 )
2010
2
Thyroid peroxidase deficiency in Batten-Spielmeyer-Vogt disease. ( 167705 )
1975

Variations for Thyroid Dyshormonogenesis 2a

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

75 (show all 24)
# 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 rs1035791118Thyroid
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 rs935058009
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 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPO TPO, 1-BP INS, 1955T 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.1618C> T (p.Arg540Ter) single nucleotide variant Pathogenic rs121908082 GRCh38 Chromosome 2, 1487841: 1487841
6 TPO NM_000547.5(TPO): c.1339A> T (p.Ile447Phe) single nucleotide variant Pathogenic rs104893669 GRCh37 Chromosome 2, 1488368: 1488368
7 TPO NM_000547.5(TPO): c.1339A> T (p.Ile447Phe) single nucleotide variant Pathogenic rs104893669 GRCh38 Chromosome 2, 1484596: 1484596
8 TPO NM_000547.5(TPO): c.1357T> G (p.Tyr453Asp) single nucleotide variant Pathogenic rs121908083 GRCh37 Chromosome 2, 1488386: 1488386
9 TPO NM_000547.5(TPO): c.1357T> G (p.Tyr453Asp) single nucleotide variant Pathogenic rs121908083 GRCh38 Chromosome 2, 1484614: 1484614
10 TPO NM_000547.5(TPO): c.1768G> A (p.Gly590Ser) single nucleotide variant Pathogenic rs121908084 GRCh37 Chromosome 2, 1491763: 1491763
11 TPO NM_000547.5(TPO): c.1768G> A (p.Gly590Ser) single nucleotide variant Pathogenic rs121908084 GRCh38 Chromosome 2, 1487991: 1487991
12 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh37 Chromosome 2, 1507728: 1507728
13 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh38 Chromosome 2, 1503956: 1503956
14 TPO TPO, 1-BP INS, 2505C insertion Pathogenic
15 TPO NM_000547.5(TPO): c.1943G> A (p.Arg648Gln) single nucleotide variant Pathogenic rs121908086 GRCh37 Chromosome 2, 1497748: 1497748
16 TPO NM_000547.5(TPO): c.1943G> A (p.Arg648Gln) single nucleotide variant Pathogenic rs121908086 GRCh38 Chromosome 2, 1493976: 1493976
17 TPO TPO, 1-BP DEL, 2512T deletion Pathogenic
18 TPO TPO, 1-BP INS, 2268T insertion Pathogenic
19 TPO NM_000547.5(TPO): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs121908087 GRCh37 Chromosome 2, 1499831: 1499831
20 TPO NM_000547.5(TPO): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs121908087 GRCh38 Chromosome 2, 1496059: 1496059
21 TPO TPO, 1-BP DEL, 1496C deletion Pathogenic
22 TPO NM_000547.5(TPO): c.1978C> G (p.Gln660Glu) single nucleotide variant Likely pathogenic rs121908088 GRCh37 Chromosome 2, 1497783: 1497783
23 TPO NM_000547.5(TPO): c.1978C> G (p.Gln660Glu) single nucleotide variant Likely pathogenic rs121908088 GRCh38 Chromosome 2, 1494011: 1494011
24 TPO NM_000547.5(TPO): c.2647C> T (p.Pro883Ser) single nucleotide variant Uncertain significance rs190968346 GRCh38 Chromosome 2, 1540622: 1540622
25 TPO NM_000547.5(TPO): c.2647C> T (p.Pro883Ser) single nucleotide variant Uncertain significance rs190968346 GRCh37 Chromosome 2, 1544394: 1544394
26 TPO NM_000547.5(TPO): c.12C> G (p.Leu4=) single nucleotide variant Likely benign rs9678281 GRCh38 Chromosome 2, 1414420: 1414420
27 TPO NM_000547.5(TPO): c.12C> G (p.Leu4=) single nucleotide variant Likely benign rs9678281 GRCh37 Chromosome 2, 1418192: 1418192
28 TPO NM_000547.5(TPO): c.769G> T (p.Ala257Ser) single nucleotide variant Likely benign rs4927611 GRCh38 Chromosome 2, 1456232: 1456232
29 TPO NM_000547.5(TPO): c.769G> T (p.Ala257Ser) single nucleotide variant Likely benign rs4927611 GRCh37 Chromosome 2, 1460004: 1460004
30 TPO NM_000547.5(TPO): c.1117G> T (p.Ala373Ser) single nucleotide variant Likely benign rs2280132 GRCh38 Chromosome 2, 1477383: 1477383
31 TPO NM_000547.5(TPO): c.1117G> T (p.Ala373Ser) single nucleotide variant Likely benign rs2280132 GRCh37 Chromosome 2, 1481155: 1481155
32 TPO NM_000547.5(TPO): c.1193G> C (p.Ser398Thr) single nucleotide variant Benign rs2175977 GRCh38 Chromosome 2, 1477459: 1477459
33 TPO NM_000547.5(TPO): c.1193G> C (p.Ser398Thr) single nucleotide variant Benign rs2175977 GRCh37 Chromosome 2, 1481231: 1481231
34 TPO NM_000547.5(TPO): c.1998C> T (p.Asp666=) single nucleotide variant Likely benign rs1126797 GRCh38 Chromosome 2, 1494031: 1494031
35 TPO NM_000547.5(TPO): c.1998C> T (p.Asp666=) single nucleotide variant Likely benign rs1126797 GRCh37 Chromosome 2, 1497803: 1497803
36 TPO NM_000547.5(TPO): c.2145C> T (p.Pro715=) single nucleotide variant Likely benign rs732608 GRCh38 Chromosome 2, 1496127: 1496127
37 TPO NM_000547.5(TPO): c.2145C> T (p.Pro715=) single nucleotide variant Likely benign rs732608 GRCh37 Chromosome 2, 1499899: 1499899
38 TPO NM_000547.5(TPO): c.2173A> C (p.Thr725Pro) single nucleotide variant Likely benign rs732609 GRCh38 Chromosome 2, 1496155: 1496155
39 TPO NM_000547.5(TPO): c.2173A> C (p.Thr725Pro) single nucleotide variant Likely benign rs732609 GRCh37 Chromosome 2, 1499927: 1499927
40 TPO NM_000547.5(TPO): c.2540T> C (p.Val847Ala) single nucleotide variant Benign rs1126799 GRCh38 Chromosome 2, 1516904: 1516904
41 TPO NM_000547.5(TPO): c.2540T> C (p.Val847Ala) single nucleotide variant Benign rs1126799 GRCh37 Chromosome 2, 1520676: 1520676
42 TPO NM_000547.5(TPO): c.1994G> A (p.Arg665Gln) single nucleotide variant Pathogenic rs140124953 GRCh37 Chromosome 2, 1497799: 1497799
43 TPO NM_000547.5(TPO): c.1994G> A (p.Arg665Gln) single nucleotide variant Pathogenic rs140124953 GRCh38 Chromosome 2, 1494027: 1494027
44 TPO duplication Pathogenic GRCh37 Chromosome 2, 1481222: 1481225

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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44 MeSH
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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
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