YUHAL
MCID: YNH001
MIFTS: 21

Yuan-Harel-Lupski Syndrome (YUHAL)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Yuan-Harel-Lupski Syndrome

MalaCards integrated aliases for Yuan-Harel-Lupski Syndrome:

Name: Yuan-Harel-Lupski Syndrome 58 26 60
Pmp22-Rai1 Contiguous Gene Duplication Syndrome 26 60
17p11.2p12 Microduplication Syndrome 60
Trisomy 17p11.2-P12 60
Trisomy 17p11.2p12 60
Dup(17)(p11.2p12) 60
Yuhal Syndrome 26
Yuhal 58

Characteristics:

OMIM:

58
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:

33
yuan-harel-lupski syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Yuan-Harel-Lupski Syndrome

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, 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). 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.

Related Diseases for Yuan-Harel-Lupski Syndrome

Symptoms & Phenotypes for Yuan-Harel-Lupski Syndrome

Human phenotypes related to Yuan-Harel-Lupski Syndrome:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 syringomyelia 33 occasional (7.5%) HP:0003396
2 high palate 33 HP:0000218
3 intellectual disability 33 HP:0001249
4 failure to thrive 33 HP:0001508
5 global developmental delay 33 HP:0001263
6 smooth philtrum 33 HP:0000319
7 feeding difficulties 33 HP:0011968
8 strabismus 33 HP:0000486
9 decreased nerve conduction velocity 33 HP:0000762
10 gait ataxia 33 HP:0002066
11 abnormality of the foot 33 HP:0001760
12 joint laxity 33 HP:0001388
13 upslanted palpebral fissure 33 HP:0000582
14 thin upper lip vermilion 33 HP:0000219
15 areflexia 33 HP:0001284
16 triangular face 33 HP:0000325
17 wide nose 33 HP:0000445
18 generalized hypotonia 33 HP:0001290
19 unsteady gait 33 HP:0002317
20 demyelinating peripheral neuropathy 33 HP:0007108
21 distal sensory impairment 33 HP:0002936
22 poor speech 33 HP:0002465
23 broad-based gait 33 HP:0002136
24 chronic constipation 33 HP:0012450
25 abnormal cardiac septum morphology 33 HP:0001671
26 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
unsteady gait
poor speech
wide-based gait
ataxic gait
more
Head And Neck Face:
smooth philtrum
triangular face
dysmorphic facial features, variable (in some patients)

Head And Neck Eyes:
strabismus
upslanting palpebral fissures

Neurologic Peripheral Nervous System:
demyelinating peripheral neuropathy
distal sensory impairment
decreased nerve conduction velocities
hypo- or areflexia

Muscle Soft Tissue:
hypotonia
distal muscle atrophy due to peripheral neuropathy
distal muscle weakness due to peripheral neuropathy

Head And Neck Nose:
broad nose

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities

Genitourinary Kidneys:
structural renal abnormalities (uncommon)

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
feeding difficulties
chronic constipation

Skeletal:
joint laxity

Cardiovascular Heart:
congenital heart defects (in some patients)
septal defects
aortic defects
aortic valve defects

Head And Neck Mouth:
high-arched palate
thin upper lip

Skeletal Feet:
foot deformities

Head And Neck Ears:
ear abnormalities

Clinical features from OMIM:

616652

Drugs & Therapeutics for Yuan-Harel-Lupski Syndrome

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

Genetic Tests for Yuan-Harel-Lupski Syndrome

Anatomical Context for Yuan-Harel-Lupski Syndrome

Publications for Yuan-Harel-Lupski Syndrome

Articles related to Yuan-Harel-Lupski Syndrome:

# Title Authors Year
1
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. ( 26544804 )
2015

Variations for Yuan-Harel-Lupski Syndrome

Expression for Yuan-Harel-Lupski Syndrome

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

Pathways for Yuan-Harel-Lupski Syndrome

GO Terms for Yuan-Harel-Lupski Syndrome

Sources for Yuan-Harel-Lupski Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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