MCID: THY063
MIFTS: 20

Thyroid Dyshormonogenesis 4

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 4

MalaCards integrated aliases for Thyroid Dyshormonogenesis 4:

Name: Thyroid Dyshormonogenesis 4 53 71 13 69
Iodotyrosine Dehalogenase Deficiency 53 71
Deiodinase Deficiency 53 71
Tdh4 53 71
Congenital Hypothyroidism Due to Dyshormonogenesis Type 4 71
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 4 53
Genetic Defect in Thyroid Hormonogenesis Type 4 71
Thyroid Hormonogenesis, Genetic Defect in, 4 53
Chdh4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
thyroid dyshormonogenesis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 4

UniProtKB/Swiss-Prot : 71 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 hypothyroidism, and has symptoms including hypothyroidism, intellectual disability and growth delay. An important gene associated with Thyroid Dyshormonogenesis 4 is IYD (Iodotyrosine Deiodinase). Affiliated tissues include thyroid.

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 hypothyroidism 10.2

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 4

Symptoms via clinical synopsis from OMIM:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 intellectual disability 31 HP:0001249
3 growth delay 31 HP:0001510
4 goiter 31 HP:0000853

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:

38
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:

71
# 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.315_317delCAT (p.Phe105_Ile106delinsLeu) deletion Pathogenic rs863223276 GRCh37 Chromosome 6, 150710624: 150710626
3 IYD NM_203395.2(IYD): c.347T> C (p.Ile116Thr) single nucleotide variant Pathogenic rs121918139 GRCh37 Chromosome 6, 150710656: 150710656
4 IYD NM_203395.2(IYD): c.658G> A (p.Ala220Thr) single nucleotide variant Pathogenic rs121918140 GRCh37 Chromosome 6, 150715362: 150715362

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
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
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