Yuan-Harel-Lupski Syndrome (YUHAL)

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OMIM 58 616652 Orphanet 60 ORPHA477817

MedGen 43 C4225255 SNOMED-CT via HPO 70 111496009 128602000 22066006 224958001 22631008 228156007 229844004 23414001 236069009 246799009 247578003 249321001 25136009 253273004 263681008 27272007 27911000 298203008 349006 36440009 37280007 394616008 396351009 432788009 59494005 78164000 91138005 more

OMIM : ⁵⁸ Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A; 118220), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS; 610883), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015). (616652)

MalaCards based summary : Yuan-Harel-Lupski Syndrome, also known as pmp22-rai1 contiguous gene duplication syndrome, is related to xp22.3 microdeletion syndrome and xq12-q13.3 duplication syndrome. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Related phenotypes are syringomyelia and high palate

Genetics Home Reference : ²⁶ Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.

Clinical features from OMIM:

616652

Search Clinical Trials , NIH Clinical Center for Yuan-Harel-Lupski Syndrome

Search GEO for disease gene expression data for Yuan-Harel-Lupski Syndrome.