MCID: YNH001
MIFTS: 21

Yuan-Harel-Lupski Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Yuan-Harel-Lupski Syndrome

MalaCards integrated aliases for Yuan-Harel-Lupski Syndrome:

Name: Yuan-Harel-Lupski Syndrome 57 59
Pmp22-Rai1 Contiguous Gene Duplication Syndrome 59
17p11.2p12 Microduplication Syndrome 59
Trisomy 17p11.2-P12 59
Trisomy 17p11.2p12 59
Dup(17)(p11.2p12) 59
Yuhal 57

Characteristics:

OMIM:

57
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:

32
yuan-harel-lupski syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Yuan-Harel-Lupski Syndrome

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

Related Diseases for Yuan-Harel-Lupski Syndrome

Symptoms & Phenotypes for Yuan-Harel-Lupski Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Yuan-Harel-Lupski Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 thin upper lip vermilion 32 HP:0000219
3 smooth philtrum 32 HP:0000319
4 triangular face 32 HP:0000325
5 wide nose 32 HP:0000445
6 strabismus 32 HP:0000486
7 upslanted palpebral fissure 32 HP:0000582
8 decreased nerve conduction velocity 32 HP:0000762
9 intellectual disability 32 HP:0001249
10 global developmental delay 32 HP:0001263
11 generalized hypotonia 32 HP:0001290
12 joint laxity 32 HP:0001388
13 failure to thrive 32 HP:0001508
14 abnormal cardiac septum morphology 32 HP:0001671
15 abnormality of the foot 32 HP:0001760
16 gait ataxia 32 HP:0002066
17 broad-based gait 32 HP:0002136
18 unsteady gait 32 HP:0002317
19 poor speech 32 HP:0002465
20 distal sensory impairment 32 HP:0002936
21 syringomyelia 32 occasional (7.5%) HP:0003396
22 demyelinating peripheral neuropathy 32 HP:0007108
23 feeding difficulties 32 HP:0011968
24 chronic constipation 32 HP:0012450

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

MalaCards organs/tissues related to Yuan-Harel-Lupski Syndrome:

41
Heart

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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