ORPHA:2849
Perlman syndrome
Synonyms: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare overgrowth syndrome characterized by polyhydramnios, pre- and postnatal macrosomia, muscular hypotonia, renal anomalies, organomegaly, abdominal distension, cryptorchidism, typical facial dysmorphism, neurodevelopmental delay and high neonatal mortality. Individuals surviving infancy show a high risk of developing Wilms tumor.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perlman syndrome | Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome |
| fr | Syndrome de Perlman | Syndrome de néphroblastomatose-ascite foetale-macrosome-tumeur de Wilms |
| de | Perlman-Syndrom | Nephroblastom - fetaler Aszites - Makrosomie - Wilms Tumor |
| es | Síndrome de Perlman | Nefroblastomatosis-ascitis fetal-macrosomía-tumor de Wilms |
| it | Sindrome di Perlman | Nefroblastomatosi - ascite fetale - macrosomia - tumore di Wilms |
| nl | Syndroom van Perlman | Nefroblastomatose - foetale ascites - macrosomie - Wilmstumor-syndroom |
| pt | Síndrome Perlman | Síndrome de nefroblastomatose-ascite fetal-macrossomia-tumor de Wilms |
| pl | Zespół Perlmana | Nefroblastomatoza - wodobrzusze płodu - makrosomia - guz Wilmsa |
| cs | Perlmanův syndrom | Syndrom zahrnující nefroblastomatózu, fetální ascites, makrosomii a Wilmsův tumor |
| uk | Синдром Перлмана | Синдром нефробластоматозу - асциту плода - макросомії - пухлини Вільмса |
| zh | Perlman综合征 | 肾母细胞瘤-胎儿腹水-巨大儿-Wilms瘤综合征 |
| tr | Perlman sendromu | Nefroblastomatozis-fetal asit-makrozomi-Wilms tümör sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267000 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0009965 | E | validated | |
| MeSH | C536399 | E | validated | |
| UMLS | C0796113 | E | validated | |
| GARD | 3936 | E | validated | |
| MedDRA | 10088870 | 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 (3):
- ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DIS3L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28648 | ENSG00000144535 | 614184 | 2q37.1 | DIS3 like 3'-5' exoribonuclease 2 | 22306653[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 18780370[PMID]_28328139[PMID]_38161545[PMID]_34964966[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 18780370[PMID]_28328139[PMID]_38161545[PMID]_34964966[PMID]_ORPHANET |
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
38 annotations · validated 2017-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000177 | Abnormality of upper lip | |
| HP:0000490 | Deeply set eye | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0000348 | High forehead | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000194 | Open mouth | |
| HP:0000278 | Retrognathia | |
| HP:0000311 | Round face | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0001328 | Specific learning disability | |
| HP:0000098 | Tall stature | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0012090 | Abnormal pancreas morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002705 | High, narrow palate | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000369 | Low-set ears | |
| HP:0002667 | Nephroblastoma | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000391 | Thickened helices | |
| Occasional (29-5%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000268 | Dolichocephaly | |
| HP:0100541 | Femoral hernia | |
| HP:0000023 | Inguinal hernia | |
| HP:0010733 | Naevus flammeus of the eyelid | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22306653[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2849
- This record as JSON: /data/d/2849.json