craniometaphyseal dysplasia—autosomal dominant

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craniometaphyseal dysplasia—autosomal dominant2016-11-25T13:13:18+00:00

craniometaphyseal dysplasia—autosomal dominant 

METABOLISM

A rare autosomal dominant skeletal disorder (OMIM:123000) characterised by abnormal bone formation and mineralisation of membranous and endochondral bones with progressive bone thickening and narrowing of cranial foramina, leading to visual and neurologic impairment, facial palsy and deafness.

Molecular pathology Defects of ANK1, which encodes a protein that regulates intra- and extracellular levels of inorganic pyrophosphate–PPi, cause craniometaphyseal dysplasia–autosomal dominant. 

Synonym Craniometaphyseal dysplasia—Jackson type 

References http://www.uniprot.org/uniprot/Q9HCJ1

http://www.omim.org/entry/123000

 

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