TDH5
MCID: THY062
MIFTS: 22

Thyroid Dyshormonogenesis 5 (TDH5)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 5

MalaCards integrated aliases for Thyroid Dyshormonogenesis 5:

Name: Thyroid Dyshormonogenesis 5 57 12 72 13 70
Tdh5 57 12 72
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 5 57 6
Congenital Hypothyroidism Due to Dyshormonogenesis Type 5 72
Genetic Defect in Thyroid Hormonogenesis Type 5 72
Thyroid Hormonogenesis, Genetic Defect in, 5 57
Genetic Defect in Thyroid Hormonogenesis 5 12
Thyroid Dyshormonogenesis, Type 5 39
Chdh5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
thyroid dyshormonogenesis 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112184
OMIM® 57 274900
MeSH 44 D003409
MedGen 41 C0342196
UMLS 70 C0342196

Summaries for Thyroid Dyshormonogenesis 5

UniProtKB/Swiss-Prot : 72 Thyroid dyshormonogenesis 5: A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism.

MalaCards based summary : Thyroid Dyshormonogenesis 5, is also known as tdh5. An important gene associated with Thyroid Dyshormonogenesis 5 is DUOXA2 (Dual Oxidase Maturation Factor 2). Affiliated tissues include thyroid, and related phenotypes are intellectual disability and hypothyroidism

Disease Ontology : 12 A familial thyroid dyshormonogenesis that has material basis in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.

More information from OMIM: 274900

Related Diseases for Thyroid Dyshormonogenesis 5

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 5

Human phenotypes related to Thyroid Dyshormonogenesis 5:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hypothyroidism 31 HP:0000821
3 growth delay 31 HP:0001510
4 goiter 31 HP:0000853
5 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
hypothyroidism

Neurologic Central Nervous System:
mental retardation (if untreated in infancy)

Head And Neck Neck:
goiter

Laboratory Abnormalities:
low or low-normal serum t4
absent or abnormal thyroglobulin
thyroglobulin synthesis defect

Clinical features from OMIM®:

274900 (Updated 20-May-2021)

Drugs & Therapeutics for Thyroid Dyshormonogenesis 5

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 5

Genetic Tests for Thyroid Dyshormonogenesis 5

Anatomical Context for Thyroid Dyshormonogenesis 5

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 5:

40
Thyroid

Publications for Thyroid Dyshormonogenesis 5

Articles related to Thyroid Dyshormonogenesis 5:

# Title Authors PMID Year
1
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. 57 6
18042646 2008
2
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. 6
23292166 2013
3
Chromosomal G + C content evolution in yeasts: systematic interspecies differences, and GC-poor troughs at centromeres. 61
20693156 2010
4
Chromosomal polymorphism in the yeast species Debaryomyces hansenii. 61
14533711 2003
5
Chromosomal polymorphism in the yeast species Debaryomyces hansenii. 61
12776916 2003
6
Analysis of the tdh gene cloned from a tdh gene- and trh gene-positive strain of Vibrio parahaemolyticus. 61
1908042 1991

Variations for Thyroid Dyshormonogenesis 5

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 5:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DUOXA2 NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) SNV Pathogenic 444 rs4774518 GRCh37: 15:45409472-45409472
GRCh38: 15:45117274-45117274
2 DUOXA2 NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) Duplication Pathogenic 225344 rs778410503 GRCh37: 15:45408785-45408786
GRCh38: 15:45116587-45116588
3 DUOXA2 NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter) SNV Pathogenic 547935 rs1555415049 GRCh37: 15:45408787-45408787
GRCh38: 15:45116589-45116589
4 DUOXA2 NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) SNV Pathogenic 917857 GRCh37: 15:45408874-45408874
GRCh38: 15:45116676-45116676
5 DUOXA2 NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) SNV Pathogenic 972709 rs770148072 GRCh37: 15:45409338-45409338
GRCh38: 15:45117140-45117140
6 DUOXA2 NM_207581.4(DUOXA2):c.147+2T>C SNV Pathogenic 1033703 GRCh37: 15:45406952-45406952
GRCh38: 15:45114754-45114754
7 DUOXA2 NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) Duplication Likely pathogenic 974896 GRCh37: 15:45406893-45406894
GRCh38: 15:45114695-45114696
8 DUOXA2 NM_207581.4(DUOXA2):c.205+2T>C SNV Uncertain significance 265105 rs201506037 GRCh37: 15:45408056-45408056
GRCh38: 15:45115858-45115858
9 DUOXA2 NM_207581.4(DUOXA2):c.341-15C>T SNV Benign 263303 rs2252371 GRCh37: 15:45408699-45408699
GRCh38: 15:45116501-45116501
10 DUOXA2 NM_207581.4(DUOXA2):c.555-18C>T SNV Benign 263306 rs955152 GRCh37: 15:45409271-45409271
GRCh38: 15:45117073-45117073
11 DUOXA2 NM_207581.4(DUOXA2):c.341-4A>G SNV Benign 263304 rs2554459 GRCh37: 15:45408710-45408710
GRCh38: 15:45116512-45116512
12 DUOXA2 NM_207581.4(DUOXA2):c.554+6T>C SNV Benign 263305 rs2576092 GRCh37: 15:45408933-45408933
GRCh38: 15:45116735-45116735
13 DUOXA2 NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly) SNV Benign 263302 rs2576090 GRCh37: 15:45408414-45408414
GRCh38: 15:45116216-45116216

Expression for Thyroid Dyshormonogenesis 5

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 5.

Pathways for Thyroid Dyshormonogenesis 5

GO Terms for Thyroid Dyshormonogenesis 5

Sources for Thyroid Dyshormonogenesis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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