MCID: THY062
MIFTS: 18

Thyroid Dyshormonogenesis 5

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 5

MalaCards integrated aliases for Thyroid Dyshormonogenesis 5:

Name: Thyroid Dyshormonogenesis 5 53 71 13 69
Tdh5 53 71
Congenital Hypothyroidism Due to Dyshormonogenesis Type 5 71
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 5 53
Genetic Defect in Thyroid Hormonogenesis Type 5 71
Thyroid Hormonogenesis, Genetic Defect in, 5 53
Chdh5 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
thyroid dyshormonogenesis 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 5

UniProtKB/Swiss-Prot : 71 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, and has symptoms including hypothyroidism, goiter and intellectual disability. An important gene associated with Thyroid Dyshormonogenesis 5 is DUOXA2 (Dual Oxidase Maturation Factor 2). Affiliated tissues include thyroid.

Description from OMIM: 274900

Related Diseases for Thyroid Dyshormonogenesis 5

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 5

Symptoms via clinical synopsis from OMIM:

53
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:

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

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:

38
Thyroid

Publications for Thyroid Dyshormonogenesis 5

Variations for Thyroid Dyshormonogenesis 5

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 5:

6
# 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.413dupA (p.Tyr138Terfs) duplication Pathogenic rs778410503 GRCh38 Chromosome 15, 45116588: 45116588

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
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....