MECP2-related severe neonatal encephalopathy
Synonyms: Severe congenital encephalopathy due to MECP2 mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MECP2-related severe neonatal encephalopathy | Severe congenital encephalopathy due to MECP2 mutation |
| fr | Encéphalopathie néonatale sévère liée à la protéine MECP2 | Encéphalopathie congénitale sévère due à une mutation du gène MECP2 |
| de | MECP2-assoziierte schwere neonatale Enzephalopathie | Enzephalopathie, kongenitale schwere, durch MECP2-Genmutation |
| es | Encefalopatía neonatal grave asociada a MECP2 | Encefalopatía congénita grave por una mutación del gen MECP2 |
| it | Encefalopatia neonatale grave correlata a MECP2 | Encefalopatia congenita grave da mutazione di MECP2 |
| nl | MECP2-gerelateerde ernstige neonatale encefalopathie | Ernstige congenitale encefalopathie door MECP2-mutatie |
| pt | Encefalopatia grave de apresentação neo-natal com microcefalia | |
| pl | Ciężka encefalopatia noworodków związana z MECP2 | = en |
| cs | Těžká novorozenecká encefalopatie s mikrocefalií | Těžká vrozená encefalopatie způsobená mutací MECP2 |
| uk | Тяжка неонатальна енцефалопатія з мікроцефалією | Тяжка вроджена енцефалопатія внаслідок мутації MECP2 |
| zh | 重度新生儿期起病的脑病伴小头畸形 | MECP2基因突变所致重度先天性脑病 |
| tr | Mikrosefali ile seyreden ağır yenidoğan başlangıçlı ensefalopati | MECP2 mutasyonuna bağlı ağır doğumsal ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300673 | E | validated | |
| ICD-10 | Q02 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0010397 | E | validated | |
| UMLS | C1968556 | 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 (2):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MECP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6990 | ENSG00000169057 | 300005 | Xq28 | methyl-CpG binding protein 2 | 18477000[PMID]_20301670[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
19 annotations · validated 2022-12-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002104 | Apnea | |
| HP:0001298 | Encephalopathy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0010843 | EEG with focal slow activity | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001510 | Growth delay | |
| HP:0004305 | Involuntary movements | |
| HP:0000252 | Microcephaly | |
| HP:0002033 | Poor suck | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0000218 | High palate | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0002126 | Polymicrogyria | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 34271245[PMID]_18477000[PMID]_20301670[PMID]_16832102[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209370
- This record as JSON: /data/d/209370.json