Thyroid Hormone Metabolism, Abnormal

Description

Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.

Clinical Features

Phenotypes and symptoms related to Thyroid Hormone Metabolism, Abnormal

  • Short stature
  • Growth delay
  • Delayed skeletal maturation
  • Increased thyroid-stimulating hormone level
  • Abnormality of thyroid physiology

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Thyroid Hormone Metabolism, Abnormal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
Thyroid hormone metabolism, abnormal (sequence analysis of SECISBP2 gene).

By CGC Genetics in Portugal.

SECISBP2
Specificity
100 %
Genes
50 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
SECISBP2-Related Disorders via the SECISBP2 Gene.

By PreventionGenetics PreventionGenetics in United States.

SECISBP2
Specificity
100 %
Genes
50 %
Thyroid hormone metabolism abnormal.

By Centogene AG - the Rare Disease Company in Germany.

SECISBP2
Specificity
100 %
Genes
50 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
CONGENITAL HYPOTHYROIDISM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Thyroid dyshormonogenesis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC26A4, SECISBP2, IYD, TSHR, SLC16A2, THRB, DUOXA2, DUOX2, SLC5A5, TG
Specificity
10 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
SECISBP2.

By Fulgent Genetics Fulgent Genetics in United States.

SECISBP2
Specificity
100 %
Genes
50 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Short Stature-delayed Bone Age due to Thyroid Hormone Metabolism Deficiency , Sequencing SECISBP2 Gene.

By Reference Laboratory Genetics in Spain.

SECISBP2
Specificity
100 %
Genes
50 %
Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, SLC16A2, THRB, DUOXA2, DUOX2, SLC5A5, TG
Specificity
10 %
Genes
50 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
6 %
Genes
50 %
Cerebrooculofacioskeletal syndrome 4 (sequence analysis of ERCC1 gene).

By CGC Genetics in Portugal.

ERCC1
Specificity
100 %
Genes
50 %
Xeroderma pigmentosum Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
Xeroderma pigmentosum NGS panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
Xeroderma pigmentosum Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
Cerebrooculofacioskeletal syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC6, ERCC5, ERCC1
Specificity
25 %
Genes
50 %
Cerebrooculofacioskeletal syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC6, ERCC5, ERCC1
Specificity
25 %
Genes
50 %
Cerebrooculofacioskeletal syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ERCC2, ERCC6, ERCC5, ERCC1
Specificity
25 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
50 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Cerebrooculofacioskeletal syndrome, type 4.

By Centogene AG - the Rare Disease Company in Germany.

ERCC1
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Single gene testing ERCC1.

By CeGaT GmbH in Germany.

ERCC1
Specificity
100 %
Genes
50 %
Xeroderma Pigmentosum NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
ERCC1.

By Fulgent Genetics Fulgent Genetics in United States.

ERCC1
Specificity
100 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Xeroderma Pigmentosum Panel.

By Blueprint Genetics in Finland.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
ERCC1 expression.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

ERCC1
Specificity
100 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
XERODERMA PIGMENTOSUM.

By Laboratorio de Genetica Clinica SL in Spain.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Xeroderma Pigmentosum: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC, POLH, DDB2, ERCC1
Specificity
12 %
Genes
50 %

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