MCID: YNH001
MIFTS: 19

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 54 56
Pmp22-Rai1 Contiguous Gene Duplication Syndrome 56
17p11.2p12 Microduplication Syndrome 56
Trisomy 17p11.2-P12 56
Trisomy 17p11.2p12 56
Dup(17)(p11.2p12) 56

Characteristics:

OMIM:

54
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


Classifications:



Summaries for Yuan-Harel-Lupski Syndrome

OMIM : 54
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 cleft palate, isolated, and has symptoms including failure to thrive, distal sensory impairment and strabismus. 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:

id Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 9.5 RAI1 YUHAL

Symptoms & Phenotypes for Yuan-Harel-Lupski Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

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

Neurologic- Central Nervous System:
delayed psychomotor development
unsteady gait
intellectual disability
poor speech
delayed walking
more
Head And Neck- Eyes:
strabismus
upslanting palpebral fissures

Skeletal- Feet:
foot deformities

Head And Neck- Face:
triangular face
smooth philtrum
dysmorphic facial features, variable (in some patients)

Neurologic- Behavioral Psychiatric Manifestations:
behavioral abnormalities

Genitourinary- Kidneys:
structural renal abnormalities (uncommon)

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

Head And Neck- Nose:
broad nose

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

Skeletal:
joint laxity

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

Abdomen- Gastroin testinal:
feeding difficulties
chronic constipation

Head And Neck- Ears:
ear abnormalities


Clinical features from OMIM:

616652

Human phenotypes related to Yuan-Harel-Lupski Syndrome:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 distal sensory impairment 32 HP:0002936
3 strabismus 32 HP:0000486
4 unsteady gait 32 HP:0002317
5 joint laxity 32 HP:0001388
6 global developmental delay 32 HP:0001263
7 intellectual disability 32 HP:0001249
8 poor speech 32 HP:0002465
9 gait ataxia 32 HP:0002066
10 syringomyelia 32 occasional (7.5%) HP:0003396
11 triangular face 32 HP:0000325
12 feeding difficulties 32 HP:0011968
13 broad-based gait 32 HP:0002136
14 high palate 32 HP:0000218
15 smooth philtrum 32 HP:0000319
16 muscular hypotonia 32 HP:0001252
17 chronic constipation 32 HP:0012450
18 wide nose 32 HP:0000445
19 thin upper lip vermilion 32 HP:0000219
20 demyelinating peripheral neuropathy 32 HP:0007108
21 abnormality of the foot 32 HP:0001760
22 upslanted palpebral fissure 32 HP:0000582
23 abnormality of the cardiac septa 32 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:

39
Heart

Publications for Yuan-Harel-Lupski Syndrome

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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