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Orofaciodigitales Syndrom 01

Das Papillon-Léage-Psaume-Syndrom ist eine x-chromosomal dominante Erkrankung, die durch Mutationen im OFD1-Gen ausgelöst wird. Die Erkrankung gehört in die Gruppe der Ziliopathien und deshalb werden neben den typischen Skelettfehlbildungen auch neuronale und viszerale Entwicklungsstörungen gefunden. Bei männlichen Anlageträgern verläuft die Erkrankung lethal.

Gliederung

Orofaciodigitales Syndrom
Orofaciodigitales Syndrom 01
OFD1
Orofaciodigitales Syndrom 04
Orofaciodigitales Syndrom 06
Orofaciodigitales Syndrom 16
Orofaciodigitales Syndrom 9

Referenzen:

1.

Harrod MJ et al. (1976) Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.

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2.

KUSHNICK T et al. (1963) OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT.

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3.

DOEGE TC et al. (1964) STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

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4.

RUESS AL et al. (1962) The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.

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5.

Gurrieri F et al. (2007) Oral-facial-digital syndromes: review and diagnostic guidelines.

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6.

None (2009) Are the oral-facial-digital syndromes ciliopathies?

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7.

Chetty-John S et al. (2010) Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

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8.

Bruel AL et al. (2017) Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

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9.

Townes PL et al. (1976) Further heterogeneity of the oral-facial-digital syndromes.

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10.

Melnick M et al. (1975) Orofaciodigital syndrome, type I: a phenotypic and genetic analysis.

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11.

Ferrante MI et al. (2001) Identification of the gene for oral-facial-digital type I syndrome.

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12.

Larralde de Luna M et al. (1992) Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume.

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13.

Goodship J et al. (1991) A male with type I orofaciodigital syndrome.

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14.

Salinas CF et al. (1991) Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

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15.

Lipp MJ et al. (1990) The oral-facial-digital syndrome: case report of a mother and daughter.

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16.

Connacher AA et al. (1987) Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

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17.

Donnai D et al. (1987) Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

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18.

Towfighi J et al. (1985) Neuropathology of oral-facial-digital syndromes.

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19.

Wahrman J et al. (1966) The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes.

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20.

FUHRMANN W et al. (1960) [On the genetics of the combination of harelip-cleft palate and syndactylia].

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21.

Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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22.

Rakkolainen A et al. (2002) Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

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23.

Morisawa T et al. (2004) Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

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24.

Thauvin-Robinet C et al. (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

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25.

Ferrante MI et al. (2009) Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

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26.

Zullo A et al. (2010) Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

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27.

Solomon LM et al. (1970) Pilosebaceous dysplasia in the oral-facial-digital syndrome.

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28.

Reinwein H et al. (1966) [Studies on a family with orofaciodigital syndrome].

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29.

Annerén G et al. (1984) Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

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30.

Cohen MM et al. (1981) Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1.

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31.

Feather SA et al. (1997) The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

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32.

Feather SA et al. (1997) Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

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33.

Morán-Barroso V et al. (1998) Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

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34.

Gedeon AK et al. (1999) Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

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35.

Shotelersuk V et al. (1999) Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

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36.

Degner D et al. (1999) [Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings].

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37.

GORLIN RJ et al. (1961) Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another.

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38.

GORLIN RJ et al. (1962) Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.

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39.

OMIM.ORG article

Omim 311200 external link
Update: 14. August 2020
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