Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorder of the thyroid hormon system

This group includes all hereditary disorders that affect the thyroid hormon system. Disturbances affecting secretion, regulation, and action may be distinguished.

Systematic

Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Disorder of the aldosterone system
Disorder of the thyroid hormon system
Hyperthyroidism
Familial gestational hyperthyroidism
TSHR
Graves disease
GC
McCune-Albright syndrom
GNAS
Non-autoimmune hyperthyroidism
TSHR
Susceptibility to thyrotoxic periodic paralysis 1
CACNA1S
Hypothyroidism
Bamforth-Lazarus syndrome
FOXE1
Central hypothyroidism
Central hypothyroidism and testicular enlargement
IGSF1
Generalized thyrotropin-releasing hormone resistance
TRHR
Thyrotropin-releasing hormone deficiency
TRH
Choreoathetosis with hypothyroidism and neonatal respiratory distress
NKX2-1
Congenital nongoitrous hypothyroidism
Congenital nongoitrous hypothyroidism 1
TSHR
Congenital nongoitrous hypothyroidism 2
PAX8
Congenital nongoitrous hypothyroidism 3
Congenital nongoitrous hypothyroidism 4
TSHB
Congenital nongoitrous hypothyroidism 5
NKX2-5
Congenital nongoitrous hypothyroidism 6
THRA
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Thyroid dyshormonogenesis
Pendred syndrome
SLC26A4
Thyroid dyshormonogenesis 1
SLC5A5
Thyroid dyshormonogenesis 2a
TPO
Thyroid dyshormonogenesis 3
TG
Thyroid dyshormonogenesis 4
IYD
Thyroid dyshormonogenesis 5
DUOXA2
Thyroid dyshormonogenesis 6
DUOX2
Susceptibility to autoimmune thyroid disease
Graves disease
GC
Susceptibility to autoimmune thyroid disease 1
Susceptibility to autoimmune thyroid disease 2
Susceptibility to autoimmune thyroid disease 3
TG
ZFAT
Susceptibility to autoimmune thyroid disease 4
Susceptibility to autoimmune thyroid disease 5
Thyroid cancer
Familial medullary thyroid cancer
NTRK1
RET
Non-medullary thyroid cancer
Familial follicular thyroid carcinoma
MINPP1
Follicular thyroid carcinoma
HRAS
NRAS
Hyperfunctioning thyroid adenoma
TSHR
Non-medullary thyroid cancer 2
SRGAP1
Non-medullary thyroid cancer 3
Non-medullary thyroid cancer 4
FOXE1
Non-medullary thyroid cancer 4
NKX2-1
Non-medullary thyroid cancer 5
HABP2
Thyroid carcinoma with thyrotoxicosis
TSHR
Thyroid hormone resistance
Abnormal thyroid hormone metabolism
SECISBP2
Allan-Herndon-Dudley syndrome
SLC16A2
RXRA
Thyroid hormone resistance, generalized, autosomal dominant
THRA
THRB
Thyroid hormone resistance, generalized, autosomal recessive
THRB
Thyroid hormone resistance, selective pituitary
THRB
Disorders of sex development
Disorders of the growth control system
Disorders of the parathyroid hormone system
Disorders of the steroid hormone system
Hereditary diabetes insipidus
Hereditary dsorders of the pituitary gland
Kidney disease appearing as endocrinological disorders
Pheochromocytoma

References:

1.

Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.

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2.

Mamanasiri S et al. (2006) Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

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3.

Usala SJ et al. (1991) A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

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4.

Takeda K et al. (1991) Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

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5.

Usala SJ et al. (1990) A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

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6.

Sakurai A et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

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7.

Magner JA et al. (1986) Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei.

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8.

Pohlenz J et al. (1999) Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.

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9.

Charles MA et al. (1975) Nuclear receptors for thyroid hormone: evidence for nonrandom distribution within chromatin.

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10.

Usala SJ et al. (1988) Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene.

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11.

Gharib H et al. (1985) Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones.

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12.

None (1985) Thyroid hormone action at the nuclear level.

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13.

Hopwood NJ et al. (1986) Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis?

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14.

None (1973) Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones.

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15.

Bode HH et al. (1973) Partial target organ resistance to thyroid hormone.

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16.

Elewaut A et al. (1976) Familial partial target organ resistance to thyroid hormones.

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17.

None (1982) Syndromes of thyroid hormone resistance.

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18.

Bantle JP et al. (1982) Resistance to thyroid hormones. A disorder frequently confused with Graves' disease.

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19.

Ohzeki T et al. (1984) Thyroid hormone unresponsiveness in two siblings with intrauterine growth retardation exophthalmos.

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20.

Refetoff S et al. (1980) Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone.

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21.

Brooks MH et al. (1981) Familial thyroid hormone resistance.

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22.

Maxon HR et al. (1980) Euthyroid, familial hyperthyroxinemia.

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23.

Refetoff S et al. (1993) The syndromes of resistance to thyroid hormone.

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24.

Hauser P et al. (1993) Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone.

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25.

Weiss RE et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.

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26.

OMIM.ORG article

Omim 188570 [^]
Update: April 29, 2019