ATHYHM
MCID: THY064
MIFTS: 21

Thyroid Hormone Metabolism, Abnormal (ATHYHM)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Thyroid Hormone Metabolism, Abnormal

MalaCards integrated aliases for Thyroid Hormone Metabolism, Abnormal:

Name: Thyroid Hormone Metabolism, Abnormal 58 30 13 6 41 74
Abnormal Thyroid Hormone Metabolism 76 38
Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency 60
Athyhm 76

Characteristics:

Orphanet epidemiological data:

60

HPO:

33
thyroid hormone metabolism, abnormal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

OMIM 58 609698
KEGG 38 H01186
MeSH 45 D013959
ICD10 via Orphanet 35 E03.1
Orphanet 60 ORPHA171706
MedGen 43 C1864761
SNOMED-CT via HPO 70 123983008 258211005 309080005
UMLS 74 C1864761

Summaries for Thyroid Hormone Metabolism, Abnormal

UniProtKB/Swiss-Prot : 76 Abnormal thyroid hormone metabolism: A disorder associated with a reduction in type II iodothyronine deiodinase activity.

MalaCards based summary : Thyroid Hormone Metabolism, Abnormal, also known as abnormal thyroid hormone metabolism, is related to rere-related disorders. An important gene associated with Thyroid Hormone Metabolism, Abnormal is SECISBP2 (SECIS Binding Protein 2). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include thyroid, and related phenotypes are delayed skeletal maturation and increased thyroid-stimulating hormone level

Description from OMIM: 609698

Related Diseases for Thyroid Hormone Metabolism, Abnormal

Diseases related to Thyroid Hormone Metabolism, Abnormal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rere-related disorders 9.9

Symptoms & Phenotypes for Thyroid Hormone Metabolism, Abnormal

Human phenotypes related to Thyroid Hormone Metabolism, Abnormal:

33
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 33 HP:0002750
2 increased thyroid-stimulating hormone level 33 HP:0002925

Clinical features from OMIM:

609698

Drugs & Therapeutics for Thyroid Hormone Metabolism, Abnormal

Drugs for Thyroid Hormone Metabolism, Abnormal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Analysis of the Relative Risk for Low Triiodothyronine Syndrome in Patients With Chronic Radiation Enteritis Completed NCT02452073

Search NIH Clinical Center for Thyroid Hormone Metabolism, Abnormal

Genetic Tests for Thyroid Hormone Metabolism, Abnormal

Genetic tests related to Thyroid Hormone Metabolism, Abnormal:

# Genetic test Affiliating Genes
1 Thyroid Hormone Metabolism, Abnormal 30 SECISBP2

Anatomical Context for Thyroid Hormone Metabolism, Abnormal

MalaCards organs/tissues related to Thyroid Hormone Metabolism, Abnormal:

42
Thyroid

Publications for Thyroid Hormone Metabolism, Abnormal

Articles related to Thyroid Hormone Metabolism, Abnormal:

# Title Authors Year
1
Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism. ( 29973617 )
2018
2
Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. ( 17318265 )
2007
3
Altered RNA binding activity underlies abnormal thyroid hormone metabolism linked to a mutation in selenocysteine insertion sequence-binding protein 2. ( 17901054 )
2007
4
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. ( 16228000 )
2005
5
Prevalence and clinical implications of abnormal thyroid hormone metabolism in advanced heart failure. ( 8333797 )
1993

Variations for Thyroid Hormone Metabolism, Abnormal

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Hormone Metabolism, Abnormal:

76
# Symbol AA change Variation ID SNP ID
1 SECISBP2 p.Arg540Gln VAR_025282 rs119461976

ClinVar genetic disease variations for Thyroid Hormone Metabolism, Abnormal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SECISBP2 NM_024077.4(SECISBP2): c.1619G> A (p.Arg540Gln) single nucleotide variant Pathogenic rs119461976 GRCh37 Chromosome 9, 91963010: 91963010
2 SECISBP2 NM_024077.4(SECISBP2): c.1619G> A (p.Arg540Gln) single nucleotide variant Pathogenic rs119461976 GRCh38 Chromosome 9, 89348095: 89348095
3 SECISBP2 NM_024077.4(SECISBP2): c.1312A> T (p.Lys438Ter) single nucleotide variant Pathogenic rs119461977 GRCh37 Chromosome 9, 91956271: 91956271
4 SECISBP2 NM_024077.4(SECISBP2): c.1312A> T (p.Lys438Ter) single nucleotide variant Pathogenic rs119461977 GRCh38 Chromosome 9, 89341356: 89341356
5 SECISBP2 NM_024077.4(SECISBP2): c.1212+29G> A single nucleotide variant Pathogenic rs730880269 GRCh37 Chromosome 9, 91953524: 91953524
6 SECISBP2 NM_024077.4(SECISBP2): c.1212+29G> A single nucleotide variant Pathogenic rs730880269 GRCh38 Chromosome 9, 89338609: 89338609
7 TRU-TCA1-1 NC_000019.10: g.45478610G> C single nucleotide variant Pathogenic rs879255589 GRCh38 Chromosome 19, 45478610: 45478610
8 TRU-TCA1-1 NC_000019.10: g.45478610G> C single nucleotide variant Pathogenic rs879255589 GRCh37 Chromosome 19, 45981868: 45981868

Expression for Thyroid Hormone Metabolism, Abnormal

Search GEO for disease gene expression data for Thyroid Hormone Metabolism, Abnormal.

Pathways for Thyroid Hormone Metabolism, Abnormal

GO Terms for Thyroid Hormone Metabolism, Abnormal

Sources for Thyroid Hormone Metabolism, Abnormal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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