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Fraser-Syndrom

Das Fraser-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen in den Genen FRAS1, GRIP1 und FREM2 ausgelöst wird. Sie ist durch Syndaktylie und Kryptophthalmos gekennzeichnet.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
Autosomal dominantes Robinow-Syndrom 1
BMP7
BNAR-Syndrom
Branchio-okulo-faziales Syndrom
Branchio-oto-renale Dysplasie
Branchiootische Syndrom
CHARGE-Syndrom
CHD1L
Denys-Drash-Syndrom
Fraser-Syndrom
FRAS1
FREM2
GRIP1
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Hirnmalformation mit Urogenitaldefekten
IVIC-Syndrom
Ivemark-Syndrom
Kabuki-Syndrom
Kongenitale Anomalien der Niere und des Harntraktes 1
Kongenitale Anomalien der Niere und des Harntraktes 2
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
Lakrimo-aurikulo-dento-digitales Syndrom
Mowat-Wilson-Syndrom
Neigung zu zystischen Nierenfehlbildung
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Simpson-Golabi-Behmel-Syndrom
Smith-Lemli-Opitz-Syndrom
Somatisches Nephroblastom
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Urofaziales Syndrom
Vesicoureteraler Reflux
WAGR-Syndrom
autosomal rezessives Robinow-Syndrom

Referenzen:

1.

Lurie IW et al. (1984) Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.

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2.

Thomas IT et al. (1986) Isolated and syndromic cryptophthalmos.

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3.

None (1986) Cryptophthalmos-syndactyly syndrome without cryptophthalmos.

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4.

Gattuso J et al. (1987) The clinical spectrum of the Fraser syndrome: report of three new cases and review.

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5.

Bialer MG et al. (1988) Syndromic cryptophthalmos.

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6.

Mortimer G et al. (1985) Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis.

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7.

Ide CH et al. (1969) Multiple congenital abnormalities associated with cryptophthalmia.

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8.

Azevêdo ES et al. (1973) Cryptophthalmos in two families from Bahia, Brazil.

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9.

None (1969) [Malformative syndrome with cryptophthalmos].

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10.

Codère F et al. (1981) Cryptophthalmos syndrome with bilateral renal agenesis.

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11.

Kiyozumi D et al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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12.

Burn J et al. (1982) Fraser syndrome presenting as bilateral renal agenesis in three sibs.

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13.

Stevens CA et al. (1994) Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome.

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14.

Pankau R et al. (1994) Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.

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15.

Andiran F et al. (1999) Fraser syndrome associated with anterior urethral atresia.

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16.

Elçioglu HN et al. (2000) Fraser syndrome: diagnosed in a 50-year-old museum specimen.

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17.

Slavotinek AM et al. (2002) Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

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18.

van Haelst MM et al. (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

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19.

Gupta SP et al. (1962) CRYPTOPHTHALMOS.

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20.

Greenberg F et al. (1986) Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome.

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21.

Takamiya K et al. (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

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22.

Vogel MJ et al. (2012) Mutations in GRIP1 cause Fraser syndrome.

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23.

Darling S et al. (1994) A mouse model for Fraser syndrome?

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24.

McGregor L et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

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25.

Vrontou S et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

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26.

Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

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27.

Cavalcanti DP et al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

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28.

van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.

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29.

Jadeja S et al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

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30.

Shafeghati Y et al. (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2.

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31.

Ramsing M et al. (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

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32.

None (1990) Fraser syndrome and mouse 'bleb' mutants.

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33.

Schauer GM et al. (1990) Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.

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34.

Francannet C et al. (1990) Fraser syndrome with renal agenesis in two consanguineous Turkish families.

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35.

Serville F et al. (1989) Fraser syndrome: prenatal ultrasonic detection.

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36.

Boyd PA et al. (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.

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37.

Koenig R et al. (1986) Cryptophthalmos--syndactyly syndrome without cryptophthalmos.

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38.

Orphanet article

Orphanet ID 2052 external link
39.

OMIM.ORG article

Omim 219000 external link
40.

Wikipedia Artikel

Wikipedia DE (Fraser-Syndrom) external link
Update: 14. August 2020
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