MCID: YNH001
MIFTS: 23

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 53 55
Pmp22-Rai1 Contiguous Gene Duplication Syndrome 55
17p11.2p12 Microduplication Syndrome 55
Trisomy 17p11.2-P12 55
Trisomy 17p11.2p12 55
Dup(17)(p11.2p12) 55
Yuhal 53

Characteristics:

OMIM:

53
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:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Yuan-Harel-Lupski Syndrome

OMIM : 53 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 xp22.13p22.2 duplication syndrome and xq12-q13.3 duplication syndrome, and has symptoms including joint laxity, gait ataxia and chronic constipation. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Affiliated tissues include heart.

Related Diseases for Yuan-Harel-Lupski Syndrome

Diseases related to Yuan-Harel-Lupski Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 xp22.13p22.2 duplication syndrome 10.2
2 xq12-q13.3 duplication syndrome 10.2

Symptoms & Phenotypes for Yuan-Harel-Lupski Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity

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)

Neurologic Peripheral Nervous System:
distal sensory impairment
demyelinating peripheral neuropathy
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)

Abdomen Gastroin testinal:
chronic constipation
feeding difficulties

Growth Other:
failure to thrive

Head And Neck Eyes:
strabismus
upslanting palpebral fissures

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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 HP:0001388
2 gait ataxia 31 HP:0002066
3 chronic constipation 31 HP:0012450
4 high palate 31 HP:0000218
5 intellectual disability 31 HP:0001249
6 failure to thrive 31 HP:0001508
7 global developmental delay 31 HP:0001263
8 smooth philtrum 31 HP:0000319
9 feeding difficulties 31 HP:0011968
10 strabismus 31 HP:0000486
11 decreased nerve conduction velocity 31 HP:0000762
12 abnormality of the foot 31 HP:0001760
13 upslanted palpebral fissure 31 HP:0000582
14 thin upper lip vermilion 31 HP:0000219
15 triangular face 31 HP:0000325
16 wide nose 31 HP:0000445
17 generalized hypotonia 31 HP:0001290
18 unsteady gait 31 HP:0002317
19 distal sensory impairment 31 HP:0002936
20 poor speech 31 HP:0002465
21 syringomyelia 31 occasional (7.5%) HP:0003396
22 demyelinating peripheral neuropathy 31 HP:0007108
23 broad-based gait 31 HP:0002136
24 abnormal cardiac septum morphology 31 HP:0001671

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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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