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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
Orofaciodigital syndrome 9

References:

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: Aug. 14, 2020
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