Details of Disease

General Information of Disease (ID: DISR5S5K)

Disease Name Crouzon syndrome-acanthosis nigricans syndrome
Synonyms can; Crouzon syndrome with acanthosis nigricans; CAN; Chronic kidney allograft nephropathy; Crouzonodermoskeletal syndrome; Crouzon-dermoskeletal syndrome; chronic allograft nephropathy
Definition
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).
Disease Hierarchy
DISEUVBK: Syndromic craniosynostosis
DIS3HIWD: Autosomal dominant disease
DISR5S5K: Crouzon syndrome-acanthosis nigricans syndrome
Disease Identifiers
MONDO ID
MONDO_0012833
MESH ID
C567382
UMLS CUI
C2677099
OMIM ID
612247
MedGen ID
394201
Orphanet ID
93262
SNOMED CT ID
702361006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR3 TTST7KB Limited Genetic Variation [1]
FGFR3 TTST7KB Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGFR3 OTSAXDIL Definitive Autosomal dominant [2]
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References

1 Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.Cleft Palate Craniofac J. 2018 Feb;55(2):296-300. doi: 10.1177/1055665617723918. Epub 2017 Dec 14.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.