Encephalopathy, neonatal severe, due to mecp2 mutations

Preferred Label : Encephalopathy, neonatal severe, due to mecp2 mutations;

Type : Phenotype, molecular basis known;

Description : The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Since then, additional reports have confirmed a severe phenotype in males with RTT-associated MECP2 mutations (Moog et al., 2003; Villard, 2007). Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes: see also nonspecific X-linked mental retardation, X-linked mental retardation with spasticity (300055), and X-linked mental retardation due to increased dosage of the MECP2 gene (300260).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, 300005.0003);

Prefixed ID : #300673;

Détails

Origin ID

300673;

UMLS CUI

C1968556;

Automatic exact mappings (from CISMeF team)
- Severe Neonatal Encephalopathy Due to MECP2 Mutations [NCIt concept]
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
Currated CISMeF NLP mapping
- Severe neonatal-onset encephalopathy with microcephaly [ORDO Disease]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH concept]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH Supplementary Concept]
DO Cross reference
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]
Genes related to phenotype
- Methyl-cpg-binding protein 2 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Central hypoventilation [HPO term]
- Congenital onset [HPO term]
- EEG abnormality [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Myoclonus [HPO term]
- Polymicrogyria [HPO term]
- Progressive microcephaly [HPO term]
- Respiratory insufficiency [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Severe neonatal-onset encephalopathy with microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methyl-cytosine phosphate guanine binding protein 2 related severe neonatal encephalopathy (disorder) [SNOMED CT concept]
- Severe Neonatal Encephalopathy Due to MECP2 Mutations [NCIt concept]
- Severe neonatal onset encephalopathy with microcephaly (disorder) [SNOMED CT concept]
- Severe neonatal-onset encephalopathy with microcephaly [ORDO Disease]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH Supplementary Concept]
- encephalopathy, neonatal severe, due to Mecp2 mutations [MeSH concept]
- severe congenital encephalopathy due to MECP2 mutation [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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