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Neurofibromatosis-Noonan syndrome

Neurofibromatosis type 1 with Noonan syndrome is an autosomal dominant disorder caused by mutations of the NF1 gene. It is a variant of neurofibromatosis 1 which in addition to cafe-au-lait spots and and multiple neurofibromas shows physical signs of Noonan syndrome.

Symptoms

Café au lait spots
In this type of neurofibromatosis cafe-au-lait spots are also associated with physical deformations typical of Noonan syndrome.

Systematic

Neurofibromatosis
Familial spinal neurofibromatosis
Legius syndrome
Neurofibromatosis 1
Neurofibromatosis-Noonan syndrome
NF1
Noonan syndrome 6
Watson syndrome

References:

1.

Colley A et al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

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2.

Klopfenstein KJ et al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases.

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3.

Bahuau M et al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

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4.

Bahuau M et al. (1996) Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

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5.

Jamieson CR et al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

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6.

Opitz JM et al. (1985) The neurofibromatosis-Noonan syndrome.

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7.

Abuelo DN et al. (1988) Neurofibromatosis with fully expressed Noonan syndrome.

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8.

None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.

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9.

Quattrin T et al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome.

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10.

Nyström AM et al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

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11.

Thiel C et al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

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12.

Stevenson DA et al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

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13.

De Luca A et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

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14.

Bertola DR et al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

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15.

Baralle D et al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

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16.

Allanson JE et al. (1985) Noonan phenotype associated with neurofibromatosis.

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17.

OMIM.ORG article

Omim 601321 external link
18.

Orphanet article

Orphanet ID 638 external link
19.

Wikipedia article

Wikipedia EN (Watson_syndrome) external link
Update: Aug. 14, 2020
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