MCID: THY062
MIFTS: 17

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 54 71 13 69
Congenital Hypothyroidism Due to Dyshormonogenesis Type 5 71
Genetic Defect in Thyroid Hormonogenesis Type 5 71
Chdh5 71
Tdh5 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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, also known as congenital hypothyroidism due to dyshormonogenesis type 5, is related to congenital hypothyroidism, duoxa2-related, and has symptoms including intellectual disability, goiter and hypothyroidism. 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

Diseases in the Thyroid Dyshormonogenesis 2a family:

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

Diseases related to Thyroid Dyshormonogenesis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism, duoxa2-related 11.1

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 5

Symptoms via clinical synopsis from OMIM:

54

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

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

Endocrine Features:
hypothyroidism

Head And Neck- Neck:
goiter


Clinical features from OMIM:

274900

Human phenotypes related to Thyroid Dyshormonogenesis 5:

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

39
Thyroid

Publications for Thyroid Dyshormonogenesis 5

Variations for Thyroid Dyshormonogenesis 5

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 5:

6
id 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 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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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