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Thyroid hormone metabolism, abnormal, 3(THMA3)

MedGen UID:
1824065
•Concept ID:
C5774292
•
Disease or Syndrome
Synonym: THMA3
 
Gene (location): TRU-TCA1-1 (19q13.32)
 
Monarch Initiative: MONDO:0859354
OMIM®: 620198

Definition

Abnormal thyroid hormone metabolism-3 (THMA3) is characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH (see 188540) and free T3 levels. Patients also show low plasma selenium levels and reduced levels of stress-related selenoproteins (Schoenmakers et al., 2016; Geslot et al., 2021). For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698). [from OMIM]

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
•Concept ID:
C0000737
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
See: Feature record | Search on this feature
Easy fatigability
MedGen UID:
373253
•Concept ID:
C1837098
•
Finding
Increased susceptibility to fatigue.
See: Feature record | Search on this feature
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
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Decreased circulating selenium concentration
MedGen UID:
1756605
•Concept ID:
C5421674
•
Finding
An abnormally reduced concentration of selenium in the blood circulation.
See: Feature record | Search on this feature
Euthyroid hyperthyroxinemia
MedGen UID:
867191
•Concept ID:
C4021549
•
Disease or Syndrome
Increased levels of thyroxine without evidence of clinical thyroid disease.
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Increased circulating free T3
MedGen UID:
867466
•Concept ID:
C4021843
•
Finding
An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
See: Feature record | Search on this feature
Abnormal thyroid-stimulating hormone level
MedGen UID:
1384219
•Concept ID:
C4476968
•
Finding
Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
See: Feature record | Search on this feature
Abnormal circulating free T3 concentration
MedGen UID:
1689152
•Concept ID:
C5139194
•
Finding
A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.
See: Feature record | Search on this feature
Abnormal circulating free T4 concentration
MedGen UID:
1732628
•Concept ID:
C5421590
•
Finding
A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.
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Increased circulating free T4 concentration
MedGen UID:
1771990
•Concept ID:
C5421591
•
Finding
An elevated concentration of free thyroxine (fT4) in the blood circulation.
See: Feature record | Search on this feature
Elevated circulating reverse T3 concentration
MedGen UID:
1815050
•Concept ID:
C5706144
•
Finding
Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The Management of Thyroid Abnormalities in Chronic Heart Failure.
Biondi B
Heart Fail Clin 2019 Jul;15(3):393-398. Epub 2019 Apr 5 doi: 10.1016/j.hfc.2019.02.008. PMID: 31079697

Recent clinical studies

Etiology

The Management of Thyroid Abnormalities in Chronic Heart Failure.
Biondi B
Heart Fail Clin 2019 Jul;15(3):393-398. Epub 2019 Apr 5 doi: 10.1016/j.hfc.2019.02.008. PMID: 31079697
Effects of thyroid dysfunction on the severity of coronary artery lesions and its prognosis.
Bai MF, Gao CY, Yang CK, Wang XP, Liu J, Qi DT, Zhang Y, Hao PY, Li MW
J Cardiol 2014 Dec;64(6):496-500. Epub 2014 Jun 17 doi: 10.1016/j.jjcc.2014.03.009. PMID: 24951271

Therapy

The Management of Thyroid Abnormalities in Chronic Heart Failure.
Biondi B
Heart Fail Clin 2019 Jul;15(3):393-398. Epub 2019 Apr 5 doi: 10.1016/j.hfc.2019.02.008. PMID: 31079697

Prognosis

The Management of Thyroid Abnormalities in Chronic Heart Failure.
Biondi B
Heart Fail Clin 2019 Jul;15(3):393-398. Epub 2019 Apr 5 doi: 10.1016/j.hfc.2019.02.008. PMID: 31079697
Effects of thyroid dysfunction on the severity of coronary artery lesions and its prognosis.
Bai MF, Gao CY, Yang CK, Wang XP, Liu J, Qi DT, Zhang Y, Hao PY, Li MW
J Cardiol 2014 Dec;64(6):496-500. Epub 2014 Jun 17 doi: 10.1016/j.jjcc.2014.03.009. PMID: 24951271

Clinical prediction guides

Effects of thyroid dysfunction on the severity of coronary artery lesions and its prognosis.
Bai MF, Gao CY, Yang CK, Wang XP, Liu J, Qi DT, Zhang Y, Hao PY, Li MW
J Cardiol 2014 Dec;64(6):496-500. Epub 2014 Jun 17 doi: 10.1016/j.jjcc.2014.03.009. PMID: 24951271

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    Related information

    • ClinVar
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      Related information in NCBI Gene
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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