MCID: THY062
MIFTS: 18

Thyroid Dyshormonogenesis 5

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 5

MalaCards integrated aliases for Thyroid Dyshormonogenesis 5:

Name: Thyroid Dyshormonogenesis 5 57 75 13 73
Tdh5 57 75
Congenital Hypothyroidism Due to Dyshormonogenesis Type 5 75
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 5 57
Genetic Defect in Thyroid Hormonogenesis Type 5 75
Thyroid Hormonogenesis, Genetic Defect in, 5 57
Chdh5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
thyroid dyshormonogenesis 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 5

UniProtKB/Swiss-Prot : 75 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 hypothyroidism and intellectual disability

Description from OMIM: 274900

Related Diseases for Thyroid Dyshormonogenesis 5

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
goiter

Endocrine Features:
hypothyroidism

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

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


Clinical features from OMIM:

274900

Human phenotypes related to Thyroid Dyshormonogenesis 5:

32
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 intellectual disability 32 HP:0001249
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 growth delay 32 HP:0001510
5 goiter 32 HP:0000853

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:

41
Thyroid

Publications for Thyroid Dyshormonogenesis 5

Variations for Thyroid Dyshormonogenesis 5

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 5:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 DUOXA2 NM_207581.3(DUOXA2): c.738C> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs4774518 GRCh37 Chromosome 15, 45409472: 45409472
2 DUOXA2 NM_207581.3(DUOXA2): c.738C> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs4774518 GRCh38 Chromosome 15, 45117274: 45117274
3 DUOXA2 NM_207581.3(DUOXA2): c.413dupA (p.Tyr138Terfs) duplication Pathogenic rs778410503 GRCh38 Chromosome 15, 45116588: 45116588
4 DUOXA2 NM_207581.3(DUOXA2): c.413dupA (p.Tyr138Terfs) duplication Pathogenic rs778410503 GRCh37 Chromosome 15, 45408786: 45408786
5 DUOXA2 NM_207581.3(DUOXA2): c.298C> G (p.Arg100Gly) single nucleotide variant Benign rs2576090 GRCh38 Chromosome 15, 45116216: 45116216
6 DUOXA2 NM_207581.3(DUOXA2): c.298C> G (p.Arg100Gly) single nucleotide variant Benign rs2576090 GRCh37 Chromosome 15, 45408414: 45408414
7 DUOXA2 NM_207581.3(DUOXA2): c.341-15C> T single nucleotide variant Benign rs2252371 GRCh38 Chromosome 15, 45116501: 45116501
8 DUOXA2 NM_207581.3(DUOXA2): c.341-15C> T single nucleotide variant Benign rs2252371 GRCh37 Chromosome 15, 45408699: 45408699
9 DUOXA2 NM_207581.3(DUOXA2): c.341-4A> G single nucleotide variant Benign rs2554459 GRCh37 Chromosome 15, 45408710: 45408710
10 DUOXA2 NM_207581.3(DUOXA2): c.341-4A> G single nucleotide variant Benign rs2554459 GRCh38 Chromosome 15, 45116512: 45116512
11 DUOXA2 NM_207581.3(DUOXA2): c.554+6T> C single nucleotide variant Benign rs2576092 GRCh38 Chromosome 15, 45116735: 45116735
12 DUOXA2 NM_207581.3(DUOXA2): c.554+6T> C single nucleotide variant Benign rs2576092 GRCh37 Chromosome 15, 45408933: 45408933
13 DUOXA2 NM_207581.3(DUOXA2): c.555-18C> T single nucleotide variant Benign rs955152 GRCh38 Chromosome 15, 45117073: 45117073
14 DUOXA2 NM_207581.3(DUOXA2): c.555-18C> T single nucleotide variant Benign rs955152 GRCh37 Chromosome 15, 45409271: 45409271

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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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