Links from Gene

Thyroid hormone metabolism, abnormal 1(THMA1)

MedGen UID:: 1801974
•Concept ID:: C5676891
•: Finding

Synonyms:	Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THMA1
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SECISBP2 (9q22.2)

Monarch Initiative:	MONDO:0800046
OMIM®:	609698
Orphanet:	ORPHA171706

Definition

Abnormal thyroid hormone metabolism-1 (THMA1) is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by Catli et al., 2018). Genetic Heterogeneity of Abnormal Thyroid Hormone Metabolism THMA2 (619855) is caused by mutation in the DIO1 gene (147892) on chromosome 1p32. THMA3 (620198) is caused by mutation in the TRU-TCA1-1 gene (165060) on chromosome 19q13. [from OMIM]

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Delayed skeletal maturation

MedGen UID:: 108148
•Concept ID:: C0541764
•: Finding

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

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Hypothyroidism

MedGen UID:: 6991
•Concept ID:: C0020676
•: Disease or Syndrome

Deficiency of thyroid hormone.

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Elevated circulating thyroid-stimulating hormone concentration

MedGen UID:: 108325
•Concept ID:: C0586553
•: Finding

Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.

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Increased circulating T4 concentration

MedGen UID:: 1619052
•Concept ID:: C4531079
•: Finding

An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).

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Decreased circulating free T3