Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Hyophysenhormonmangel Typ 5

Die Septooptische Dysplasie ist eine autosomal rezessive oder dominante Erkrankung mit variabler Penetranz die von Mutationen im HESX1-gen hervorgerufen wird. Die klinischen Symptome skönnen recht variabel sein und ummfassen neben den Störungen der Hypophysenhormone auch eine Optikusatrophie und Mittelhirnabnormalitäten, wie zum Beispiel das Fehlen des Corpus callosum und des Septum pellucidum. Nur etwa 30% der Betroffenen zeigen eine Ausbildung aller Symptome gleichzeitig.

Epidemiologie

Die Erkrankung ist mit einem jüngeren Alter der Mutter assoziiert und die Inzidenz wird mit 1 bei 10.000 Lebendgeburten angegeben.[Error: Macro 'ref' doesn't exist]

Gliederung

Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
Hyophysenhormonmangel Typ 2
Hyophysenhormonmangel Typ 3
Hyophysenhormonmangel Typ 4
Hyophysenhormonmangel Typ 5
HESX1

Referenzen:

1.

Schuelke M et al. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

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2.

Wales JK et al. (1996) Evidence for possible Mendelian inheritance of septo-optic dysplasia.

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3.

Dattani MT et al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

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4.

Thomas PQ et al. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

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5.

Brickman JM et al. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

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6.

Tajima T et al. (2003) Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

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7.

Carvalho LR et al. (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

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8.

Sobrier ML et al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

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9.

McNay DE et al. (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

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10.

Rush JA et al. (1978) Septo-optic dysplasia (de Morsier syndrome).

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11.

Purdy F et al. (1979) Maternal factors in septo-optic dysplasia.

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12.

Patel H et al. (1975) Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.

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13.

Benner JD et al. (1990) Septo-optic dysplasia in two siblings.

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14.

Blethen SL et al. (1985) Hypopituitarism and septooptic "dysplasia" in first cousins.

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15.

Hoyt WF et al. (1970) Septo-optic dysplasia and pituitary dwarfism.

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16.

Harris RJ et al. (1972) Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome).

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17.

Brook CG et al. (1972) Septo-optic dysplasia.

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18.

Stewart C et al. (1983) Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia.

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19.

Brodsky MC et al. (1997) Sudden death in septo-optic dysplasia. Report of 5 cases.

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20.

None (1962) Median craioencephalic dysraphias and olfactogenital dysplasia.

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21.

Birkebaek NH et al. (2003) Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

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22.

Stevens CA et al. (2004) Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

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23.

Harrison IM et al. (2004) Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

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24.

Webb EA et al. (2010) Septo-optic dysplasia.

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25.

OMIM.ORG article

Omim 182230 [^]
26.

Wikipedia Artikel

Wikipedia DE (Septo-optische_Dysplasie) [^]
Update: 29. April 2019