Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Nicht-autoimmunbedingte Hyperthyreose

Die nicht-autoimmunbedingte Hyperthyreose ist eine autosomal dominante Erkrankung, die durch aktivierende Mutationen im TSHR-Gen hervorgerufen wird.

Gliederung

Hyperthyreose
Basedow-Krankheit
Familiäre Schwangerschaftshyperthyreose
McCune-Albright-Syndrom
Neigung zur thyreotoxischen periodischen Paralyse 1
Nicht-autoimmunbedingte Hyperthyreose
TSHR

Referenzen:

1.

Paschke R et al. (1997) The thyrotropin receptor in thyroid diseases.

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2.

Thomas JS et al. (1982) Familial hyperthyroidism without evidence of autoimmunity.

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3.

Kopp P et al. (1995) Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.

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4.

Duprez L et al. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

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5.

de Roux N et al. (1996) A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

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6.

Hollingsworth DR et al. (1976) Congenital graves disease. Four familial cases with long-term follow-up and perspective.

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7.

Hollingsworth DR et al. (1972) Hereditary aspects of Graves' disease in infancy and childhood.

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8.

Orphanet article

Orphanet ID 424 [^]
9.

OMIM.ORG article

Omim 609152 [^]
Update: 10. Mai 2019