Crouzon syndrome with acanthosis nigricans

Preferred Label : Crouzon syndrome with acanthosis nigricans;

Symbol : CAN;

CISMeF acronym : CAN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Crouzonodermoskeletal syndrome;

Description : Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation (A391E) in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0011);

Prefixed ID : #612247;

Details

Origin ID

612247;

UMLS CUI

C2677099;

Automatic exact mappings (from CISMeF team)
- Can [NCIt concept]
- Can - unit of product usage (qualifier value) [SNOMED CT concept]
- Can Dosing Unit [NCIt concept]
- Chronic Allograft Nephropathy [NCIt concept]
- Crouzon syndrome - acanthosis nigricans [ICD-11 More detail]
- Crouzon syndrome-acanthosis nigricans syndrome [DO Concept]
- GDC AJCC Clinical N Terminology [NCIt concept]
- NUP214 wt Allele [NCIt concept]
- Nuclear Pore Complex Protein Nup214 [NCIt concept]
- nucleoporin 214 [ORDO Gene]
- nucleoporin 214 [HGNC gene]
CISMeF manual mappings
- Crouzon syndrome with acanthosis nigricans (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Crouzon syndrome-acanthosis nigricans syndrome [ORDO Disease]
- crouzon syndrome with acanthosis nigricans [MeSH concept]
- crouzon syndrome with acanthosis nigricans [MeSH Supplementary Concept]
DO Cross reference
- Crouzon syndrome-acanthosis nigricans syndrome [DO Concept]
False automatic mappings
- Canada [NCIt concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Choanal atresia [HPO term]
- Craniosynostosis [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Melanocytic nevus [HPO term]
- Midface retrusion [HPO term]
- Proptosis [HPO term]
ORDO concept(s)
- Crouzon syndrome-acanthosis nigricans syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Crouzon syndrome with acanthosis nigricans (disorder) [SNOMED CT concept]
- Crouzon syndrome-acanthosis nigricans syndrome [ORDO Disease]
- crouzon syndrome with acanthosis nigricans [MeSH Supplementary Concept]
- crouzon syndrome with acanthosis nigricans [MeSH concept]

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