Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Synonyms: PMSE syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | PMSE syndrome |
| fr | Syndrome de polyhydramnios-mégalencéphalie-épilepsie symptomatique | Syndrome PMSE |
| de | Polyhydramnion-Megalenzephalie-symptomatische Epilepsie-Syndrom | PMSE-Syndrom |
| es | Síndrome de polihidramnios-megalencefalia-epilepsia sintomática | Síndrome PMSE |
| it | Sindrome polidramnios - megalencefalia - epilessia sintomatica | |
| nl | Polyhydramnion - megalencefalie - symptomatische epilepsie-syndroom | PMSE-syndroom |
| pt | Síndrome de epilepsia sintomática por polidramnios-megalencefalia | |
| pl | Zespół wielowodzia, padaczki objawowej i megalencefalii | = en |
| cs | Syndrom zahrnující polyhydramnion, megalencefalii a symptomatickou epilepsii | PMSE syndrome · PMSE syndrom |
| uk | Синдром полігідрамніозу-мегаленцефалії-симптоматичної епілепсії | Синдром PMSE |
| zh | 羊水过多-巨颅畸形-症状性癫痫综合征 | = en |
| tr | Polihidramnios-megalensefali-semptomatik epilepsi sendromu | PMSE sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611087 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | not yet validated |
| MONDO | 0012611 | E | validated | |
| MeSH | C567020 | E | validated | |
| UMLS | C1970203 | E | validated | |
| GARD | 12913 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STRADA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30172 | ENSG00000266173 | 608626 | 17q23.3 | STE20 related adaptor alpha | 28688840[PMID]_27170158[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 27170158[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27170158[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.
HPO phenotypes
34 annotations · validated 2020-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0012469 | Infantile spasms | |
| HP:0000256 | Macrocephaly | |
| HP:0001355 | Megalencephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0030891 | Periventricular white matter hyperintensities | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001344 | Absent speech | |
| HP:0001631 | Atrial septal defect | |
| HP:0001635 | Congestive heart failure | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000873 | Diabetes insipidus | |
| HP:0002307 | Drooling | |
| HP:0000297 | Facial hypotonia | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000348 | High forehead | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0001382 | Joint hypermobility | |
| HP:0000275 | Narrow face | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000194 | Open mouth | |
| HP:0011344 | Severe global developmental delay | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0002133 | Status epilepticus | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000154 | Wide mouth | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 17522105[PMID]_27170158[PMID]_30311510[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500533
- This record as JSON: /data/d/500533.json