ORPHA:477817
PMP22-RAI1 contiguous gene duplication syndrome
Synonyms: 17p11.2p12 microduplication syndrome · Dup(17)(p11.2p12) · Trisomy 17p11.2-p12 · Trisomy 17p11.2p12 · Yuan-Harel-Lupski syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PMP22-RAI1 contiguous gene duplication syndrome | 17p11.2p12 microduplication syndrome · Dup(17)(p11.2p12) · Trisomy 17p11.2-p12 · Trisomy 17p11.2p12 · Yuan-Harel-Lupski syndrome |
| fr | Syndrome de duplication de gènes contigus PMP22-RAI1 | Dup(17)(p11.2p12) · Syndrome Yuan-Harel-Lupski · Syndrome de microduplication 17p11.2p12 · Trisomie 17p11.2-p12 · Trisomie 17p11.2p12 |
| de | PMP22-RAI1-Contiguous gene duplication-Syndrom | Yuan-Harel-Lupski-Syndrom · Dup(17)(p11.2p12) · Mikroduplikationssyndrom 17p11.2p12 · Trisomie 17p11.2-p12 · Trisomie 17p11.2p12 |
| es | Síndrome de duplicación de genes contiguos PMP22-RAI1 | Dup(17)(p11.2p12) · Síndrome de Yuan-Harel-Lupski · Síndrome de microduplicación 17p11.2p12 · Trisomía 17p11.2-p12 · Trisomía 17p11.2p12 |
| it | Sindrome da duplicazione di geni contigui PMP22-RAI1 | |
| nl | PMP22-RAI1-'contiguous gene'-duplicatiesyndroom | 17p11.2p12-microduplicatiesyndroom · Dup(17)(p11.2p12) · Syndroom met duplicatie van aangrenzende genen PMP22 en RAI1 · Syndroom van Yuan-Harel-Lupski · Syndroom van overlappende PMP22-RAI1-genduplicaties · Trisomie 17p11.2-p12 · Trisomie 17p11.2p12 |
| pt | Síndrome de duplicação dos genes contíguos PMP22-RAI1 | |
| pl | Zespół duplikacji przyległych genów PMP22-RAI1 | Dup(17)(p11.2p12) · Trisomia 17p11.2p12 · Trisomia 17p11.2-p12 · Zespół mikroduplikacji 17p11.2p12 · Zespół Yuana, Harela i Lupskiego |
| cs | Syndrom duplikace přilehlých genů PMP22 a RAI1 | Dup(17)(p11.2p12) · Trisomy 17p11.2p12 · Trisomy 17p11.2-p12 · Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome · Trizomie 17p11.2p12 · Trizomie 17p11.2-p12 · Yuan-Harel-Lupski syndrom · Syndrom mikroduplikace 17p11.2p12 |
| uk | Синдром суміжної дуплікації генів PMP22-RAI1 | Синдром мікродуплікації 17p11.2p12 · Dup(17)(p11.2p12) · Трисомія 17p11.2p12 · Трисомія 17p11.2-p12 · Синдром Юань-Хареля-Лупського |
| zh | PMP22-RAI1临近基因重复综合征 | 染色体17p11.2p12微重复综合征 |
| tr | PMP22-RAI1 bitişik gen duplikasyon sendromu | Dup(17)(p11.2p12) · Trizomi 17p11.2p12 · Trizomi 17p11.2-p12 · Yuan-Harel-Lupski sendromu · 17p11.2p12 mikroduplikasyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616652 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0014723 | E | validated | |
| UMLS | C4225255 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262968Partial duplication of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAI1 | Role in the phenotype of | Assessed | HGNC:9834 | ENSG00000108557 | 607642 | 17p11.2 | retinoic acid induced 1 | 26544804[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 26544804[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26544804[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
46 annotations · validated 2020-01-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0012450 | Chronic constipation | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001382 | Joint hypermobility | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004942 | Aortic aneurysm | |
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0002136 | Broad-based gait | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000343 | Long philtrum | |
| HP:0002623 | Overriding aorta | |
| HP:0001655 | Patent foramen ovale | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0001852 | Sandal gap | |
| HP:0000763 | Sensory neuropathy | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0003396 | Syringomyelia | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000325 | Triangular face | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000445 | Wide nose | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 14699617[PMID]_18327785[PMID]_26544804[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477817
- This record as JSON: /data/d/477817.json