Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Orofaciodigital syndrome 01

Papillon-Léage-Psaume syndrome is an x-linked dominant disorder caused by mutations of the OFD1 gene. The disease is lethal in males. It is a ciliopathy characterized by skeletal, neuronal and visceral malformations.

Systematic

Orofaciodigital syndrome
Orofaciodigital syndrome 01
OFD1
Orofaciodigital syndrome 04
Orofaciodigital syndrome 06
Orofaciodigital syndrome 16

References:

1.

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

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2.

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

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3.

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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4.

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

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5.

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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6.

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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7.

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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8.

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

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9.

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10.

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

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11.

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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12.

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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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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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Update: Oct. 11, 2018