TDH4
MCID: THY063
MIFTS: 25

Thyroid Dyshormonogenesis 4 (TDH4)

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

Aliases & Classifications for Thyroid Dyshormonogenesis 4

MalaCards integrated aliases for Thyroid Dyshormonogenesis 4:

Name: Thyroid Dyshormonogenesis 4 58 76 13 74
Iodotyrosine Dehalogenase Deficiency 58 76
Deiodinase Deficiency 58 76
Tdh4 58 76
Congenital Hypothyroidism Due to Dyshormonogenesis Type 4 76
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 4 58
Genetic Defect in Thyroid Hormonogenesis Type 4 76
Thyroid Hormonogenesis, Genetic Defect in, 4 58
Chdh4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
thyroid dyshormonogenesis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 4

UniProtKB/Swiss-Prot : 76 Thyroid dyshormonogenesis 4: A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism.

MalaCards based summary : Thyroid Dyshormonogenesis 4, also known as iodotyrosine dehalogenase deficiency, is related to hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency and hypothyroidism. An important gene associated with Thyroid Dyshormonogenesis 4 is IYD (Iodotyrosine Deiodinase). Affiliated tissues include thyroid and testes, and related phenotypes are hypothyroidism and intellectual disability

Description from OMIM: 274800

Related Diseases for Thyroid Dyshormonogenesis 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency 12.2
2 hypothyroidism 10.4
3 graves disease 1 9.9
4 anxiety 9.9
5 goiter 9.9
6 depression 9.9

Graphical network of the top 20 diseases related to Thyroid Dyshormonogenesis 4:



Diseases related to Thyroid Dyshormonogenesis 4

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 4

Human phenotypes related to Thyroid Dyshormonogenesis 4:

33 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 33 HP:0000821
2 intellectual disability 33 HP:0001249
3 growth delay 33 HP:0001510
4 goiter 33 HP:0000853

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
hypothyroidism

Growth Other:
growth retardation

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

Head And Neck Neck:
goiter

Laboratory Abnormalities:
low t4
low t3
rapid high rai (radioactive iodine) uptake and turnover
iodotyrosine deiodinase deficiency
continuous urinary iodine loss
more

Clinical features from OMIM:

274800

Drugs & Therapeutics for Thyroid Dyshormonogenesis 4

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 4

Genetic Tests for Thyroid Dyshormonogenesis 4

Anatomical Context for Thyroid Dyshormonogenesis 4

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 4:

42
Thyroid, Testes

Publications for Thyroid Dyshormonogenesis 4

Articles related to Thyroid Dyshormonogenesis 4:

(showing 7, show less)
# Title Authors Year
1
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. ( 18434651 )
2008
2
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. ( 18765512 )
2008
3
The test of overloading L-diiodotyrosine (DIT) in the screening of iodotyrosine dehalogenase deficiency. ( 579538 )
1978
4
A variant of iodotyrosine-dehalogenase deficiency. ( 838849 )
1977
5
Normal conversion of thyroxine to triiodothyronine in a subject with iodotyrosine-dehalogenase deficiency. ( 1004933 )
1976
6
Sporadic non-endemic goitrous cretinism; hereditary transmission. ( 13333116 )
1956
7
Hypothyroidism as an inborn error of metabolism. ( 13183981 )
1954

Variations for Thyroid Dyshormonogenesis 4

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 4:

76 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 IYD p.Arg101Trp VAR_045963 rs121918138
2 IYD p.Ile116Thr VAR_045965 rs121918139

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 4:

6 (showing 10, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 IYD NM_001164694.1(IYD): c.793T> C (p.Cys265Arg) single nucleotide variant Benign rs612421 GRCh37 Chromosome 6, 150716696: 150716696
2 IYD NM_001164694.1(IYD): c.793T> C (p.Cys265Arg) single nucleotide variant Benign rs612421 GRCh38 Chromosome 6, 150395560: 150395560
3 IYD NM_203395.2(IYD): c.658G> A (p.Ala220Thr) single nucleotide variant Pathogenic rs121918140 GRCh38 Chromosome 6, 150394226: 150394226
4 IYD NM_203395.2(IYD): c.658G> A (p.Ala220Thr) single nucleotide variant Pathogenic rs121918140 GRCh37 Chromosome 6, 150715362: 150715362
5 IYD NM_203395.2(IYD): c.347T> C (p.Ile116Thr) single nucleotide variant Pathogenic rs121918139 GRCh38 Chromosome 6, 150389520: 150389520
6 IYD NM_203395.2(IYD): c.347T> C (p.Ile116Thr) single nucleotide variant Pathogenic rs121918139 GRCh37 Chromosome 6, 150710656: 150710656
7 IYD NM_203395.2(IYD): c.315_317delCAT (p.Phe105_Ile106delinsLeu) deletion Pathogenic rs863223276 GRCh38 Chromosome 6, 150389488: 150389490
8 IYD NM_203395.2(IYD): c.315_317delCAT (p.Phe105_Ile106delinsLeu) deletion Pathogenic rs863223276 GRCh37 Chromosome 6, 150710624: 150710626
9 IYD NM_203395.2(IYD): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121918138 GRCh38 Chromosome 6, 150389474: 150389474
10 IYD NM_203395.2(IYD): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121918138 GRCh37 Chromosome 6, 150710610: 150710610

Expression for Thyroid Dyshormonogenesis 4

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 4.

Pathways for Thyroid Dyshormonogenesis 4

GO Terms for Thyroid Dyshormonogenesis 4

Sources for Thyroid Dyshormonogenesis 4

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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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