Fraser syndrome

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Fraser syndrome2016-11-25T20:58:42+00:00

Fraser syndrome

GENETICS

A multisystem malformation complex (OMIM:219000) usually characterised by cryptophthalmos, cutaneous syndactyly, ear defects, renal agenesis and congenital heart defects.

Molecular pathology Defects of

FRAS1 (OMIM:607830), which encodes a matrix protein involved in regulating epidermal-basement membrane adhesion and organogenesis during development, or 

FREM2 (OMIM:608945), which encodes a basement membrane protein that plays a role in craniofacial and renal development and epithelial differentiation, or 

GRIP1 (OMIM:604597), which encodes a protein thought to act as a localised scaffold for assembling a multiprotein signaling complex and mediating trafficking of its binding partners at specific subcellular sites in neurons,

all cause Fraser syndrome.

Synonyms Cryptophthalmos-syndactyly syndrome, cryptophthalmos with other malformations 

References http://www.uniprot.org/uniprot/Q86XX4

http://www.omim.org/entry/219000

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