Details of Disease | DrugMAP

General Information of Disease (ID: DISHZEW1)

Disease Name	Cenani-Lenz syndactyly syndrome
Synonyms	syndactyly Cenani Lenz type; Cenani-Lenz type syndactyly; syndactyly, type 7; Cenani-Lenz syndrome; CLSS; Cenani syndactylism; Cenani-Lenz syndactyly syndrome; Cenani syndactyly; Cenani-Lenz syndactyly; syndactyly type 7
Definition	Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Disease Hierarchy	DISFLSDF: Polydactyly-syndactyly-triphalangism DIS3LICD: Congenital limb malformation DISHZEW1: Cenani-Lenz syndactyly syndrome
Disease Identifiers	MONDO ID MONDO_0008931 MESH ID C538150 UMLS CUI C1859309 OMIM ID 212780 MedGen ID 395226 Orphanet ID 3258 SNOMED CT ID 720633009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APC	OTKV0TIK	Supportive	Autosomal recessive	[1]
LRP4	OTO4M459	Definitive	Autosomal recessive	[2]
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References

1	A novel APC mutation defines a second locus for Cenani-Lenz syndrome. J Med Genet. 2015 May;52(5):317-21. doi: 10.1136/jmedgenet-2014-102850. Epub 2015 Feb 12.
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.