THMA
MCID: THY064
MIFTS: 28

Thyroid Hormone Metabolism, Abnormal (THMA)

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 72 29 13 6 39 70
Thma 57 72
Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency 58
Abnormal Thyroid Hormone Metabolism 36

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
thyroid hormone metabolism, abnormal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM® 57 609698
KEGG 36 H01186
MeSH 44 D013959
ICD10 via Orphanet 33 E03.1
Orphanet 58 ORPHA171706
MedGen 41 C1864761
UMLS 70 C1864761

Summaries for Thyroid Hormone Metabolism, Abnormal

KEGG : 36 Abnormal thyroid hormone metabolism is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins. Fibroblasts of affected patients show decreased deiodinase type 2 (DIO2) enzymatic activity not linked to the DIO2 locus.

MalaCards based summary : Thyroid Hormone Metabolism, Abnormal, also known as thma, is related to tibial hemimelia and hemimelia. An important gene associated with Thyroid Hormone Metabolism, Abnormal is SECISBP2 (SECIS Binding Protein 2). Affiliated tissues include thyroid and bone, and related phenotypes are delayed skeletal maturation and short stature

OMIM® : 57 SECISBP2-associated abnormal thyroid hormone metabolism is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by Catli et al., 2018). (609698) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Thyroid hormone metabolism, abnormal: A disorder associated with a reduction in type II iodothyronine deiodinase activity.

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 tibial hemimelia 10.9
2 hemimelia 10.9
3 hypothyroidism 10.0
4 acute myocardial infarction 10.0

Symptoms & Phenotypes for Thyroid Hormone Metabolism, Abnormal

Human phenotypes related to Thyroid Hormone Metabolism, Abnormal:

31
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 HP:0002750
2 short stature 31 HP:0004322
3 increased thyroid-stimulating hormone level 31 HP:0002925

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
increased serum thyrotropin
increased total thyroxine (t(4))
increased free thyroxine (t(4))
increased reverse triiodothyronine (rt(3))
decreased triiodothyronine (t(3))

Muscle Soft Tissue:
weakness, proximal extremity muscles
fatty infiltration of muscles

Growth Height:
short stature (pre-pubertal)

Laboratory Abnormalities:
low serum selenium

Clinical features from OMIM®:

609698 (Updated 20-May-2021)

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:

40
Thyroid, Bone

Publications for Thyroid Hormone Metabolism, Abnormal

Articles related to Thyroid Hormone Metabolism, Abnormal:

(show all 33)
# Title Authors PMID Year
1
A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy. 6 57
29882503 2018
2
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 57 6
16228000 2005
3
Removal of 1,4-dioxane during on-site wastewater treatment using nitrogen removing biofilters. 61
33548721 2021
4
Faster region convolutional neural network and semen tracking algorithm for sperm analysis. 61
33465511 2021
5
Enhanced long-term attenuation of 1,4-dioxane in bioaugmented flow-through aquifer columns. 61
32468172 2020
6
Heterologous and Engineered Biosynthesis of Nematocidal Polyketide-Nonribosomal Peptide Hybrid Macrolactone from Extreme Thermophilic Fungi. 61
31904941 2020
7
Highly Efficient and Stable Solar Cells Based on Crystalline Oriented 2D/3D Hybrid Perovskite. 61
31194267 2019
8
Abundance of Chlorinated Solvent and 1,4-Dioxane Degrading Microorganisms at Five Chlorinated Solvent Contaminated Sites Determined via Shotgun Sequencing. 61
30427665 2018
9
Two-Dimensional Ruddlesden-Popper Perovskite with Nanorod-like Morphology for Solar Cells with Efficiency Exceeding 15. 61
30157626 2018
10
1,4-Dioxane-degrading consortia can be enriched from uncontaminated soils: prevalence of Mycobacterium and soluble di-iron monooxygenase genes. 61
28984418 2018
11
Associating potential 1,4-dioxane biodegradation activity with groundwater geochemical parameters at four different contaminated sites. 61
29059571 2018
12
Microbial reductive dehalogenation of trihalomethanes by a Dehalobacter-containing co-culture. 61
28424844 2017
13
Hydrogen-bond interaction assisted branched copolymer HILIC material for separation and N-glycopeptides enrichment. 61
27343616 2016
14
Estimating temperature-dependent anisotropic hydrogen displacements with the invariom database and a new segmented rigid-body analysis program. 61
26664341 2015
15
Reduction of Acetate and Lactate Contributed to Enhancement of a Recombinant Protein Production in E. coli BL21. 61
25791848 2015
16
Trehalose promotes Rhodococcus sp. strain YYL colonization in activated sludge under tetrahydrofuran (THF) stress. 61
26029182 2015
17
Widespread distribution of soluble di-iron monooxygenase (SDIMO) genes in Arctic groundwater impacted by 1,4-dioxane. 61
23909410 2013
18
Functionalised zinc oxide nanowire gas sensors: Enhanced NO(2) gas sensor response by chemical modification of nanowire surfaces. 61
23016141 2012
19
Synthesis and neurotoxicity profile of 2,4,5-trihydroxymethamphetamine and its 6-(N-acetylcystein-S-yl) conjugate. 61
21557581 2011
20
Modulation of hydrolysis and transglycosylation activity of Thermus maltogenic amylase by combinatorial saturation mutagenesis. 61
18756100 2008
21
Enzymatic synthesis of a selective inhibitor for alpha-glucosidases: alpha-acarviosinyl-(1-->9)-3-alpha-D-glucopyranosylpropen. 61
18553919 2008
22
Physiological, numerical and molecular characterization of alkyl ether-utilizing rhodococci. 61
17504487 2007
23
The atlA operon of Streptococcus mutans: role in autolysin maturation and cell surface biogenesis. 61
16980491 2006
24
Mutagenesis of Ala290, which modulates substrate subsite affinity at the catalytic interface of dimeric ThMA. 61
15975859 2005
25
L-glutamate enhances the expression of Thermus maltogenic amylase in Escherichia coli. 61
14763819 2004
26
Directed evolution of Thermus maltogenic amylase toward enhanced thermal resistance. 61
12902281 2003
27
Cloning and characterization of a gene cluster involved in tetrahydrofuran degradation in Pseudonocardia sp. strain K1. 61
12632259 2003
28
Preparation and characterization of alpha-D-glucopyranosyl-alpha-acarviosinyl-D-glucopyranose, a novel inhibitor specific for maltose-producing amylase. 61
12119024 2002
29
Modulation of the multisubstrate specificity of Thermus maltogenic amylase by truncation of the N-terminal domain and by a salt-induced shift of the monomer/dimer equilibrium. 61
11714271 2001
30
Role of the glutamate 332 residue in the transglycosylation activity of ThermusMaltogenic amylase. 61
10841756 2000
31
Modes of action of acarbose hydrolysis and transglycosylation catalyzed by a thermostable maltogenic amylase, the gene for which was cloned from a Thermus strain. 61
10103262 1999
32
Thermophilin 13, a nontypical antilisterial poration complex bacteriocin, that functions without a receptor. 61
9162062 1997
33
[Changes in the content of 17-oxycorticosteroids in blood plasma in patients with bronchial thma]. 61
5617202 1967

Variations for Thyroid Hormone Metabolism, Abnormal

ClinVar genetic disease variations for Thyroid Hormone Metabolism, Abnormal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SECISBP2 NM_024077.5(SECISBP2):c.1619G>A (p.Arg540Gln) SNV Pathogenic 2919 rs119461976 GRCh37: 9:91963010-91963010
GRCh38: 9:89348095-89348095
2 SECISBP2 NM_024077.5(SECISBP2):c.1312A>T (p.Lys438Ter) SNV Pathogenic 2920 rs119461977 GRCh37: 9:91956271-91956271
GRCh38: 9:89341356-89341356
3 SECISBP2 NM_024077.5(SECISBP2):c.1212+29G>A SNV Pathogenic 2921 rs730880269 GRCh37: 9:91953524-91953524
GRCh38: 9:89338609-89338609
4 SECISBP2 NM_024077.5(SECISBP2):c.800dup (p.Gly268_Glu269insTer) Duplication Pathogenic 638567 rs1587875298 GRCh37: 9:91943797-91943798
GRCh38: 9:89328882-89328883
5 TRU-TCA1-1 NC_000019.10:g.45478610G>C SNV Pathogenic 217868 rs879255589 GRCh37: 19:45981868-45981868
GRCh38: 19:45478610-45478610
6 SECISBP2 NM_024077.5(SECISBP2):c.2391dup (p.Thr798fs) Duplication Pathogenic 998331 GRCh37: 9:91973033-91973034
GRCh38: 9:89358118-89358119
7 SECISBP2 NM_024077.5(SECISBP2):c.575-2A>C SNV Pathogenic 1032154 GRCh37: 9:91943573-91943573
GRCh38: 9:89328658-89328658
8 SECISBP2 NM_024077.5(SECISBP2):c.137C>G (p.Ser46Cys) SNV Uncertain significance 1028292 GRCh37: 9:91934667-91934667
GRCh38: 9:89319752-89319752

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

72
# Symbol AA change Variation ID SNP ID
1 SECISBP2 p.Arg540Gln VAR_025282 rs119461976

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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