MCID: THY063
MIFTS: 21

Thyroid Dyshormonogenesis 4

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 4

MalaCards integrated aliases for Thyroid Dyshormonogenesis 4:

Name: Thyroid Dyshormonogenesis 4 57 75 13 73
Iodotyrosine Dehalogenase Deficiency 57 75
Deiodinase Deficiency 57 75
Tdh4 57 75
Congenital Hypothyroidism Due to Dyshormonogenesis Type 4 75
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 4 57
Genetic Defect in Thyroid Hormonogenesis Type 4 75
Thyroid Hormonogenesis, Genetic Defect in, 4 57
Chdh4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
thyroid dyshormonogenesis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 4

UniProtKB/Swiss-Prot : 75 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 related phenotypes are hypothyroidism and goiter

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:

# Related Disease Score Top Affiliating Genes
1 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency 12.0
2 hypothyroidism 10.2

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 4

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
growth retardation

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

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

Endocrine Features:
hypothyroidism


Clinical features from OMIM:

274800

Human phenotypes related to Thyroid Dyshormonogenesis 4:

32
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 goiter 32 HP:0000853
3 intellectual disability 32 HP:0001249
4 growth delay 32 HP:0001510

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:

41
Thyroid

Publications for Thyroid Dyshormonogenesis 4

Articles related to Thyroid Dyshormonogenesis 4:

# Title Authors Year
1
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. ( 18765512 )
2008

Variations for Thyroid Dyshormonogenesis 4

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 IYD NM_203395.2(IYD): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121918138 GRCh37 Chromosome 6, 150710610: 150710610
2 IYD NM_203395.2(IYD): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121918138 GRCh38 Chromosome 6, 150389474: 150389474
3 IYD NM_203395.2(IYD): c.315_317delCAT (p.Phe105_Ile106delinsLeu) deletion Pathogenic rs863223276 GRCh37 Chromosome 6, 150710624: 150710626
4 IYD NM_203395.2(IYD): c.315_317delCAT (p.Phe105_Ile106delinsLeu) deletion Pathogenic rs863223276 GRCh38 Chromosome 6, 150389488: 150389490
5 IYD NM_203395.2(IYD): c.347T> C (p.Ile116Thr) single nucleotide variant Pathogenic rs121918139 GRCh37 Chromosome 6, 150710656: 150710656
6 IYD NM_203395.2(IYD): c.347T> C (p.Ile116Thr) single nucleotide variant Pathogenic rs121918139 GRCh38 Chromosome 6, 150389520: 150389520
7 IYD NM_203395.2(IYD): c.658G> A (p.Ala220Thr) single nucleotide variant Pathogenic rs121918140 GRCh37 Chromosome 6, 150715362: 150715362
8 IYD NM_203395.2(IYD): c.658G> A (p.Ala220Thr) single nucleotide variant Pathogenic rs121918140 GRCh38 Chromosome 6, 150394226: 150394226
9 IYD NM_001164694.1(IYD): c.793T> C (p.Cys265Arg) single nucleotide variant Benign rs612421 GRCh38 Chromosome 6, 150395560: 150395560
10 IYD NM_001164694.1(IYD): c.793T> C (p.Cys265Arg) single nucleotide variant Benign rs612421 GRCh37 Chromosome 6, 150716696: 150716696

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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