ENS-MECP2
MCID: ENC054
MIFTS: 22

Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations (ENS-MECP2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

MalaCards integrated aliases for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

Name: Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 58 76
Severe Neonatal-Onset Encephalopathy with Microcephaly 60 30 6
Encephalopathy, Neonatal Severe 58 13
Severe Congenital Encephalopathy Due to Mecp2 Mutation 60
Encephalopathy, Neonatal, Severe 41
Ens-Mecp2 76

Characteristics:

Orphanet epidemiological data:

60
severe neonatal-onset encephalopathy with microcephaly
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Miscellaneous:
onset at birth
death usually within first 2 years of life
mecp2 mutations are those found in females with rett syndrome

Inheritance:
x-linked recessive


HPO:

33
encephalopathy, neonatal severe, due to mecp2 mutations:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

OMIM : 58 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). (300673)

MalaCards based summary : Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations, also known as severe neonatal-onset encephalopathy with microcephaly, is related to encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities and mecp2-related severe neonatal encephalopathy, and has symptoms including seizures, myoclonus and apnea. An important gene associated with Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations is MECP2 (Methyl-CpG Binding Protein 2). Related phenotypes are seizures and hyperreflexia

UniProtKB/Swiss-Prot : 76 Encephalopathy, neonatal severe, due to MECP2 mutations: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.

Related Diseases for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Diseases in the Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations family:

Mecp2-Related Severe Neonatal Encephalopathy

Diseases related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 12.6
2 mecp2-related severe neonatal encephalopathy 11.6
3 hyperparathyroidism, neonatal severe 9.8
4 encephalopathy 9.8

Symptoms & Phenotypes for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Human phenotypes related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hyperreflexia 33 HP:0001347
3 failure to thrive 33 HP:0001508
4 respiratory insufficiency 33 HP:0002093
5 eeg abnormality 33 HP:0002353
6 global developmental delay 33 HP:0001263
7 gastroesophageal reflux 33 HP:0002020
8 feeding difficulties in infancy 33 HP:0008872
9 intellectual disability, severe 33 HP:0010864
10 myoclonus 33 HP:0001336
11 apnea 33 HP:0002104
12 intellectual disability, progressive 33 HP:0006887
13 rigidity 33 HP:0002063
14 polymicrogyria 33 HP:0002126
15 encephalopathy 33 HP:0001298
16 central hypoventilation 33 HP:0007110
17 muscular hypotonia of the trunk 33 HP:0008936
18 progressive microcephaly 33 HP:0000253

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hyperreflexia
myoclonus
developmental delay, severe
mental retardation, severe
more
Respiratory:
respiratory insufficiency
apnea
central hypoventilation

Head And Neck Head:
microcephaly, progressive

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Neurologic Behavioral Psychiatric Manifestations:
stereotypical movements

Clinical features from OMIM:

300673

UMLS symptoms related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:


seizures, myoclonus, apnea, limb rigidity

Drugs & Therapeutics for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Genetic Tests for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Genetic tests related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

# Genetic test Affiliating Genes
1 Severe Neonatal-Onset Encephalopathy with Microcephaly 30 MECP2

Anatomical Context for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Publications for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Variations for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

ClinVar genetic disease variations for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

6 (show top 50) (show all 274)
# Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_001110792.1(MECP2): c.45_47dupAGG (p.Gly16dup) duplication Conflicting interpretations of pathogenicity rs587783744 GRCh37 Chromosome X, 153363076: 153363078
2 MECP2 NM_001110792.1(MECP2): c.45_47dupAGG (p.Gly16dup) duplication Conflicting interpretations of pathogenicity rs587783744 GRCh38 Chromosome X, 154097619: 154097621
3 MECP2 NM_004992.3(MECP2): c.1101_1201del101 (p.His367Glnfs) deletion Pathogenic rs1557135315 GRCh37 Chromosome X, 153296078: 153296178
4 MECP2 NM_004992.3(MECP2): c.1101_1201del101 (p.His367Glnfs) deletion Pathogenic rs1557135315 GRCh38 Chromosome X, 154030627: 154030727
5 MECP2 NM_004992.3(MECP2): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance rs786205037 GRCh38 Chromosome X, 154032207: 154032207
6 MECP2 NM_004992.3(MECP2): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance rs786205037 GRCh37 Chromosome X, 153297658: 153297658
7 MECP2 NM_001110792.1(MECP2): c.62+1G> A single nucleotide variant Pathogenic rs786205048 GRCh37 Chromosome X, 153363060: 153363060
8 MECP2 NM_001110792.1(MECP2): c.62+1G> A single nucleotide variant Pathogenic rs786205048 GRCh38 Chromosome X, 154097603: 154097603
9 MECP2 NM_004992.3(MECP2): c.-143_-138dup duplication Conflicting interpretations of pathogenicity rs398123566 GRCh37 Chromosome X, 153363100: 153363105
10 MECP2 NM_004992.3(MECP2): c.-143_-138dup duplication Conflicting interpretations of pathogenicity rs398123566 GRCh38 Chromosome X, 154097643: 154097648
11 MECP2 NM_004992.3(MECP2): c.1328C> T (p.Ala443Val) single nucleotide variant Uncertain significance rs375101073 GRCh38 Chromosome X, 154030500: 154030500
12 MECP2 NM_004992.3(MECP2): c.1328C> T (p.Ala443Val) single nucleotide variant Uncertain significance rs375101073 GRCh37 Chromosome X, 153295951: 153295951
13 MECP2 NM_004992.3(MECP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs781816931 GRCh37 Chromosome X, 153296091: 153296091
14 MECP2 NM_004992.3(MECP2): c.1188C> T (p.Ser396=) single nucleotide variant Conflicting interpretations of pathogenicity rs781816931 GRCh38 Chromosome X, 154030640: 154030640
15 MECP2 NM_004992.3(MECP2): c.276A> G (p.Gly92=) single nucleotide variant Conflicting interpretations of pathogenicity rs140191561 GRCh37 Chromosome X, 153297759: 153297759
16 MECP2 NM_004992.3(MECP2): c.276A> G (p.Gly92=) single nucleotide variant Conflicting interpretations of pathogenicity rs140191561 GRCh38 Chromosome X, 154032308: 154032308
17 MECP2 NM_004992.3(MECP2): c.397C> T (p.Arg133Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28934904 GRCh37 Chromosome X, 153296882: 153296882
18 MECP2 NM_004992.3(MECP2): c.397C> T (p.Arg133Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28934904 GRCh38 Chromosome X, 154031431: 154031431
19 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
20 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
21 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
22 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh37 Chromosome X, 153297719: 153297719
23 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh38 Chromosome X, 154032268: 154032268
24 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
25 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh38 Chromosome X, 154031020: 154031020
26 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
27 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
28 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
29 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
30 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
31 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
32 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
33 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh38 Chromosome X, 154031326: 154031326
34 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
35 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh38 Chromosome X, 154031065: 154031065
36 MECP2 NM_004992.3(MECP2): c.1282G> A (p.Gly428Ser) single nucleotide variant Likely benign rs61753971 GRCh37 Chromosome X, 153295997: 153295997
37 MECP2 NM_004992.3(MECP2): c.1282G> A (p.Gly428Ser) single nucleotide variant Likely benign rs61753971 GRCh38 Chromosome X, 154030546: 154030546
38 MECP2 NM_004992.3(MECP2): c.1154_1186del (p.Leu386_Ser396del) deletion Pathogenic GRCh37 Chromosome X, 153296093: 153296125
39 MECP2 NM_004992.3(MECP2): c.1154_1186del (p.Leu386_Ser396del) deletion Pathogenic GRCh38 Chromosome X, 154030642: 154030674
40 MECP2 NM_004992.3(MECP2): c.1072G> A (p.Ala358Thr) single nucleotide variant Benign/Likely benign rs147017239 GRCh37 Chromosome X, 153296207: 153296207
41 MECP2 NM_004992.3(MECP2): c.1072G> A (p.Ala358Thr) single nucleotide variant Benign/Likely benign rs147017239 GRCh38 Chromosome X, 154030756: 154030756
42 MECP2 NM_004992.3(MECP2): c.1327G> A (p.Ala443Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922677 GRCh37 Chromosome X, 153295952: 153295952
43 MECP2 NM_004992.3(MECP2): c.1327G> A (p.Ala443Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193922677 GRCh38 Chromosome X, 154030501: 154030501
44 MECP2 NM_004992.3(MECP2): c.932C> T (p.Thr311Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61751445 GRCh37 Chromosome X, 153296347: 153296347
45 MECP2 NM_004992.3(MECP2): c.932C> T (p.Thr311Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61751445 GRCh38 Chromosome X, 154030896: 154030896
46 MECP2 NM_004992.3(MECP2): c.-140_-138dup duplication Conflicting interpretations of pathogenicity rs398123566 GRCh37 Chromosome X, 153363100: 153363102
47 MECP2 NM_004992.3(MECP2): c.-140_-138dup duplication Conflicting interpretations of pathogenicity rs398123566 GRCh38 Chromosome X, 154097643: 154097645
48 MECP2 NM_004992.3(MECP2): c.1071C> T (p.Ser357=) single nucleotide variant Benign/Likely benign rs61750236 GRCh37 Chromosome X, 153296208: 153296208
49 MECP2 NM_004992.3(MECP2): c.1071C> T (p.Ser357=) single nucleotide variant Benign/Likely benign rs61750236 GRCh38 Chromosome X, 154030757: 154030757
50 MECP2 NM_004992.3(MECP2): c.1126C> T (p.Pro376Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61752387 GRCh37 Chromosome X, 153296153: 153296153

Expression for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Search GEO for disease gene expression data for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations.

Pathways for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

GO Terms for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Sources for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....