YUHAL
MCID: YNH001
MIFTS: 27
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Yuan-Harel-Lupski Syndrome (YUHAL)
Categories:
Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Yuan-Harel-Lupski Syndrome:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset at birth onset of peripheral neuropathy in the first decade genomic duplications occur de novo pmp22 and rai1 are included in smallest region of overlap HPO:31
yuan-harel-lupski syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course congenital onset Classifications:
Orphanet: 58
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Genetics Home Reference :
25
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.
The first signs and symptoms of YUHAL syndrome begin in infancy. Infants with YUHAL syndrome usually have weak muscle tone (hypotonia), which may lead to feeding problems. They typically do not grow and gain weight at the expected rate. Babies and children with YUHAL syndrome have delayed development, including delayed speech and language skills and motor skills such as walking. YUHAL syndrome is also associated with behavioral difficulties. Many affected individuals have sleep problems, including pauses in breathing during sleep (sleep apnea) or trouble falling asleep and staying asleep. Some people with YUHAL syndrome have subtle differences in facial features, including outside corners of the eyes that point downward (down-slanting palpebral fissures), a triangular face, and eyes that do not look in the same direction (strabismus). These signs and symptoms are similar to those of Potocki-Lupski syndrome.
Other signs and symptoms of YUHAL syndrome begin in childhood and result from damage to peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Damage to peripheral nerves can lead to loss of sensation and wasting (atrophy) of muscles in the legs. Children with YUHAL syndrome often develop muscle weakness, particularly in the lower legs, which may lead to an unusual walking style (gait). Some affected individuals have foot abnormalities such as flat feet (pes planus), high arches (pes cavus), or an inward- and upward-turning foot (clubfoot). They may also experience reduced reflexes and a decreased sensitivity to touch, heat, and cold in the feet and lower legs. Similar features are seen in individuals with type 1A Charcot-Marie-Tooth disease, although they may appear earlier in people with YUHAL syndrome, often before age 5.
Abnormal development of other tissues and organs, such as the heart or kidneys, can occur in YUHAL syndrome.
MalaCards based summary : Yuan-Harel-Lupski Syndrome, also known as pmp22-rai1 contiguous gene duplication syndrome, is related to smith-magenis syndrome and charcot-marie-tooth disease, demyelinating, type 1a. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Affiliated tissues include heart, brain and eye, and related phenotypes are global developmental delay and delayed speech and language development OMIM : 56 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) |
Diseases related to Yuan-Harel-Lupski Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Yuan-Harel-Lupski Syndrome:![]() |
Human phenotypes related to Yuan-Harel-Lupski Syndrome:58 31 (show top 50) (show all 58)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616652 |
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MalaCards organs/tissues related to Yuan-Harel-Lupski Syndrome:40
Heart,
Brain,
Eye,
Spinal Cord,
Kidney
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Articles related to Yuan-Harel-Lupski Syndrome:
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