MCID: THY063
MIFTS: 23

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 54 71 13 69
Congenital Hypothyroidism Due to Dyshormonogenesis Type 4 71
Genetic Defect in Thyroid Hormonogenesis Type 4 71
Iodotyrosine Dehalogenase Deficiency 71
Deiodinase Deficiency 71
Chdh4 71
Tdh4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 congenital hypothyroidism due to dyshormonogenesis type 4, is related to hypothyroidism, and has symptoms including intellectual disability, goiter and hypothyroidism. An important gene associated with Thyroid Dyshormonogenesis 4 is IYD (Iodotyrosine Deiodinase). The drugs Coal tar and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include thyroid and lung.

Description from OMIM: 274800

Related Diseases for Thyroid Dyshormonogenesis 4

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

id Related Disease Score Top Affiliating Genes
1 hypothyroidism 10.1

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 4

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
iodine depletion
tyrosine loss
continuous urinary iodine loss
iodotyrosine deiodinase deficiency
rapid high rai (radioactive iodine) uptake and turnover
more
Neurologic- Central Nervous System:
mental retardation (if untreated in infancy)

Growth- Other:
growth retardation

Endocrine Features:
hypothyroidism

Head And Neck- Neck:
goiter


Clinical features from OMIM:

274800

Human phenotypes related to Thyroid Dyshormonogenesis 4:

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

Drugs & Therapeutics for Thyroid Dyshormonogenesis 4

Drugs for Thyroid Dyshormonogenesis 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 2 8007-45-2
2 Anesthetics Phase 2
3 Anesthetics, General Phase 2
4 Anesthetics, Inhalation Phase 2
5 Anti-Allergic Agents Phase 2
6 Anti-Asthmatic Agents Phase 2
7 Anti-Inflammatory Agents Phase 2
8 Autonomic Agents Phase 2
9 Bronchodilator Agents Phase 2
10 Central Nervous System Depressants Phase 2
11 Dermatologic Agents Phase 2
12
Fluticasone Phase 2 90566-53-3, 80474-14-2 62924 22833648
13 Keratolytic Agents Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Respiratory System Agents Phase 2
16 Xenon Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Hyperpolarized Xenon-129 MRI: a New Multi-dimensional Biomarker to Determine Pulmonary Physiologic Responses to COPD Therapeutics Recruiting NCT03002389 Phase 2 Anoro Ellipta;Arnuity Ellipta
2 Assessing Deformable Image Registration in the Lung Using Hyperpolarized-gas MRI Recruiting NCT02995590 Phase 1 Hyperpolarized Helium
3 Study of Airflow in the Lungs Using Helium MRI Recruiting NCT02154568 hyperpolarized helium MRI of the chest

Search 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:

39
Thyroid, Lung

Publications for Thyroid Dyshormonogenesis 4

Variations for Thyroid Dyshormonogenesis 4

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

71
id 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
id 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
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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