ATHYHM
MCID: THY064
MIFTS: 23

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 57 29 13 6 40 73
Abnormal Thyroid Hormone Metabolism 75 37
Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency 59
Athyhm 75

Characteristics:

Orphanet epidemiological data:

59

HPO:

32
thyroid hormone metabolism, abnormal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 609698
Orphanet 59 ORPHA171706
ICD10 via Orphanet 34 E03.1
MedGen 42 C1864761
MeSH 44 D013959
KEGG 37 H01186
SNOMED-CT via HPO 69 258211005 123983008 309080005
UMLS 73 C1864761

Summaries for Thyroid Hormone Metabolism, Abnormal

UniProtKB/Swiss-Prot : 75 Abnormal thyroid hormone metabolism: A disorder associated with a reduction in type II iodothyronine deiodinase activity.

MalaCards based summary : Thyroid Hormone Metabolism, Abnormal, is also known as abnormal thyroid hormone metabolism. An important gene associated with Thyroid Hormone Metabolism, Abnormal is SECISBP2 (SECIS Binding Protein 2). Affiliated tissues include thyroid, bone and heart, and related phenotypes are delayed skeletal maturation and increased thyroid-stimulating hormone level

Description from OMIM: 609698

Related Diseases for Thyroid Hormone Metabolism, Abnormal

Symptoms & Phenotypes for Thyroid Hormone Metabolism, Abnormal

Clinical features from OMIM:

609698

Human phenotypes related to Thyroid Hormone Metabolism, Abnormal:

32
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 HP:0002750
2 increased thyroid-stimulating hormone level 32 HP:0002925

Drugs & Therapeutics for Thyroid Hormone Metabolism, Abnormal

Search Clinical Trials , 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 29 SECISBP2

Anatomical Context for Thyroid Hormone Metabolism, Abnormal

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

41
Thyroid, Bone, Heart

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:

75
# 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 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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