TDH4
MCID: THY063
MIFTS: 26

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 57 12 72 13 70
Deiodinase Deficiency 57 12 72 6
Iodotyrosine Dehalogenase Deficiency 57 12 72
Tdh4 57 12 72
Congenital Hypothyroidism Due to Dyshormonogenesis Type 4 72
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 4 57
Genetic Defect in Thyroid Hormonogenesis Type 4 72
Thyroid Hormonogenesis, Genetic Defect in, 4 57
Genetic Defect in Thyroid Hormonogenesis 4 12
Thyroid Dyshormonogenesis, Type 4 39
Chdh4 72

Characteristics:

OMIM®:

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


HPO:

31
thyroid dyshormonogenesis 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112188
OMIM® 57 274800
MeSH 44 D003409
MedGen 41 C0342195
UMLS 70 C0342195

Summaries for Thyroid Dyshormonogenesis 4

UniProtKB/Swiss-Prot : 72 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 deiodinase 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 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 IYD on chromosome 6q25.1.

More information 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:

# Related Disease Score Top Affiliating Genes
1 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency 11.1
2 hypothyroidism 10.5
3 congenital hypothyroidism 10.2
4 familial thyroid dyshormonogenesis 10.2
5 goiter 10.2
6 graves disease 1 10.0
7 hyperthyroxinemia 9.9
8 iodine hypothyroidism 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:

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

Symptoms via clinical synopsis from OMIM®:

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

Growth Other:
growth retardation

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

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

Clinical features from OMIM®:

274800 (Updated 20-May-2021)

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:

40
Thyroid

Publications for Thyroid Dyshormonogenesis 4

Articles related to Thyroid Dyshormonogenesis 4:

(show all 12)
# Title Authors PMID Year
1
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. 57 6
18765512 2008
2
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. 57 6
18434651 2008
3
Hypothyroidism as an inborn error of metabolism. 6 57
13183981 1954
4
A variant of iodotyrosine-dehalogenase deficiency. 57
838849 1977
5
[Thyroid hormonosynthesis disorders due to iodotyrosine-dehalogenase deficiency. Value of the D.I.T. test for the detection of heterozygotes]. 57
4135480 1974
6
[Infantile hypothyroidism caused by iodotyrosine-dehalogenase deficiency. II. Results of iodine treatment in 5 cases (8 years of recession in 1 case]. 57
4994830 1970
7
THYROIDAL DEIODINATION DEFECT IN THREE SISTERS WITH SIMPLE GOITER. 57
14169503 1964
8
Defective deiodination of I-131-labeled L-diiodotyrosine in patients with simple goiter. 57
13927578 1963
9
Sporadic non-endemic goitrous cretinism; hereditary transmission. 6
13333116 1956
10
Characterization of thermostable direct hemolysins encoded by four representative tdh genes of Vibrio parahaemolyticus. 61
1890953 1991
11
Similarity of the tdh gene-bearing plasmids of Vibrio cholerae non-O1 and Vibrio parahaemolyticus. 61
1857199 1991
12
Duplication and variation of the thermostable direct haemolysin (tdh) gene in Vibrio parahaemolyticus. 61
2319944 1990

Variations for Thyroid Dyshormonogenesis 4

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IYD NM_203395.3(IYD):c.301C>T (p.Arg101Trp) SNV Pathogenic 737 rs121918138 GRCh37: 6:150710610-150710610
GRCh38: 6:150389474-150389474
2 IYD NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) Deletion Pathogenic 738 rs863223276 GRCh37: 6:150710623-150710625
GRCh38: 6:150389487-150389489
3 IYD NM_203395.3(IYD):c.347T>C (p.Ile116Thr) SNV Pathogenic 739 rs121918139 GRCh37: 6:150710656-150710656
GRCh38: 6:150389520-150389520
4 IYD NM_203395.3(IYD):c.658G>A (p.Ala220Thr) SNV Pathogenic 740 rs121918140 GRCh37: 6:150715362-150715362
GRCh38: 6:150394226-150394226
5 IYD NM_203395.3(IYD):c.624del (p.Val209fs) Deletion Pathogenic 1030475 GRCh37: 6:150715323-150715323
GRCh38: 6:150394187-150394187
6 IYD NM_203395.3(IYD):c.673del (p.Leu224_Leu225insTer) Deletion Pathogenic 1031821 GRCh37: 6:150715377-150715377
GRCh38: 6:150394241-150394241
7 IYD NM_203395.3(IYD):c.687+1305T>C SNV Benign 257584 rs612421 GRCh37: 6:150716696-150716696
GRCh38: 6:150395560-150395560

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

72
# Symbol AA change Variation ID SNP ID
1 IYD p.Arg101Trp VAR_045963 rs121918138
2 IYD p.Ile116Thr VAR_045965 rs121918139

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

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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