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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease crouzon disease
Symptom C0000889|acanthosis nigricans
Sentences 11
PubMedID- 23986840 crouzon syndrome associated with acanthosis nigricans: prenatal 2d and 3d ultrasound findings and postnatal 3d ct findings.
PubMedID- 24476664 Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome.
PubMedID- 25442473 These clinical anomalies suggested a case of crouzon syndrome with acanthosis nigricans, which was later confirmed by the finding of a mutation in the fgfr3 gene.
PubMedID- 23571469 Conclusions and relevance: in addition to craniofacial malformations, crouzon syndrome with acanthosis nigricans results in characteristic cutaneous findings.
PubMedID- 20061739 A rare association of acanthosis nigricans with crouzon syndrome.
PubMedID- 25129254 The fgfr-related craniosynostosis spectrum includes ps, apert syndrome, jackson-weiss syndrome, beare-stevenson syndrome, crouzon syndrome, crouzon syndrome with acanthosis nigricans, muenke syndrome, and fgfr2-related isolated coronal synostosis (11,13,22).
PubMedID- 22529939 However, the a391e mutation causes a distinctly different phenotype, crouzon syndrome with acanthosis nigricans, a disorder which impacts predominantly the cranial bones and the skin , not the long bones.
PubMedID- 21136065 crouzon syndrome with acanthosis nigricans: a case-based update.
PubMedID- 23437153 The a391e mutation in fibroblast growth factor receptor 3 (fgfr3) is the genetic cause for crouzon syndrome with acanthosis nigricans.
PubMedID- 26244699 First, we show that the a391e mutation, linked to crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances fgfr3 dimerization in the absence of ligand and thus induces aberrant receptor interactions.
PubMedID- 22649697 In particular, gly380arg and ala391glu mutations in the tmregion of fgfr3 cause lethal dysplasia , respectively.

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