Yuan-Harel-Lupski Syndrome

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OMIM 57 616652 Orphanet 59 ORPHA477817

MedGen 42 C4225255 SNOMED-CT via HPO 69 263681008 27272007 249321001 128602000 22066006 246799009 228156007 247578003 91138005 224958001 27911000 298203008 36440009 432788009 253273004 396351009 59494005 229844004 25136009 22631008 394616008 111496009 23414001 78164000 236069009 more

OMIM : ⁵⁷ 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, is also known as pmp22-rai1 contiguous gene duplication syndrome. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Affiliated tissues include heart, and related phenotypes are high palate and thin upper lip vermilion

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.