MCID: ENC054
MIFTS: 21

Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Categories: Genetic 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 57 75
Severe Neonatal-Onset Encephalopathy with Microcephaly 59 29 6
Encephalopathy, Neonatal Severe 57 13
Severe Congenital Encephalopathy Due to Mecp2 Mutation 59
Encephalopathy, Neonatal, Severe 40
Ens-Mecp2 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
encephalopathy, neonatal severe, due to mecp2 mutations:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

OMIM : 57 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 apnea, myoclonus and seizures. 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 : 75 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 12.4
2 mecp2-related severe neonatal encephalopathy 11.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hyperreflexia 32 HP:0001347
3 failure to thrive 32 HP:0001508
4 respiratory insufficiency 32 HP:0002093
5 eeg abnormality 32 HP:0002353
6 global developmental delay 32 HP:0001263
7 gastroesophageal reflux 32 HP:0002020
8 feeding difficulties in infancy 32 HP:0008872
9 intellectual disability, severe 32 HP:0010864
10 myoclonus 32 HP:0001336
11 apnea 32 HP:0002104
12 intellectual disability, progressive 32 HP:0006887
13 rigidity 32 HP:0002063
14 polymicrogyria 32 HP:0002126
15 encephalopathy 32 HP:0001298
16 central hypoventilation 32 HP:0007110
17 muscular hypotonia of the trunk 32 HP:0008936
18 progressive microcephaly 32 HP:0000253

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


apnea, myoclonus, seizures, 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 29 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 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
2 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
3 MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic
4 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh37 Chromosome X, 153297719: 153297719
5 MECP2 NM_004992.3(MECP2): c.316C> T (p.Arg106Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28934907 GRCh38 Chromosome X, 154032268: 154032268
6 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
7 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh38 Chromosome X, 154031020: 154031020
8 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
9 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
10 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
11 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
12 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
13 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh38 Chromosome X, 154031326: 154031326
14 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh37 Chromosome X, 153296516: 153296516
15 MECP2 NM_004992.3(MECP2): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61749721 GRCh38 Chromosome X, 154031065: 154031065
16 MECP2 MECP2, 2-BP DEL, 488GG deletion Pathogenic
17 MECP2 MECP2, 32-BP DEL, NT1154 deletion Pathogenic
18 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
19 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh38 Chromosome X, 154031022: 154031022
20 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh37 Chromosome X, 153296082: 153296122
21 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh38 Chromosome X, 154030631: 154030671
22 MECP2 NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs) deletion Pathogenic rs63749748 GRCh37 Chromosome X, 153296079: 153296122
23 MECP2 NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs) deletion Pathogenic rs63749748 GRCh38 Chromosome X, 154030628: 154030671
24 MECP2 NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs) deletion Pathogenic rs61752992 GRCh37 Chromosome X, 153296072: 153296115
25 MECP2 NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs) deletion Pathogenic rs61752992 GRCh38 Chromosome X, 154030621: 154030664
26 MECP2 NM_004992.3(MECP2): c.119_120delAG (p.Glu40Glyfs) deletion Pathogenic rs267608428 GRCh37 Chromosome X, 153297915: 153297916
27 MECP2 NM_004992.3(MECP2): c.119_120delAG (p.Glu40Glyfs) deletion Pathogenic rs267608428 GRCh38 Chromosome X, 154032464: 154032465
28 MECP2 NM_004992.3(MECP2): c.380C> T (p.Pro127Leu) single nucleotide variant Likely pathogenic rs267608387 GRCh38 Chromosome X, 154031448: 154031448
29 MECP2 NM_004992.3(MECP2): c.380C> T (p.Pro127Leu) single nucleotide variant Likely pathogenic rs267608387 GRCh37 Chromosome X, 153296899: 153296899
30 MECP2 NM_004992.3(MECP2): c.488_489delGG (p.Gly163Glufs) deletion Pathogenic rs267608488 GRCh37 Chromosome X, 153296790: 153296791
31 MECP2 NM_004992.3(MECP2): c.488_489delGG (p.Gly163Glufs) deletion Pathogenic rs267608488 GRCh38 Chromosome X, 154031339: 154031340
32 MECP2 NM_004992.3(MECP2): c.753dupC (p.Gly252Argfs) duplication Pathogenic rs61749751 GRCh37 Chromosome X, 153296526: 153296526
33 MECP2 NM_004992.3(MECP2): c.753dupC (p.Gly252Argfs) duplication Pathogenic rs61749751 GRCh38 Chromosome X, 154031075: 154031075
34 MECP2 NM_004992.3(MECP2): c.808delC (p.Arg270Glufs) deletion Pathogenic rs62931162 GRCh37 Chromosome X, 153296471: 153296471
35 MECP2 NM_004992.3(MECP2): c.808delC (p.Arg270Glufs) deletion Pathogenic rs62931162 GRCh38 Chromosome X, 154031020: 154031020
36 MECP2 NM_001110792.1(MECP2): c.414-3_419delCAGTCCCCA deletion Pathogenic rs267608466 GRCh38 Chromosome X, 154031445: 154031453
37 MECP2 NM_001110792.1(MECP2): c.414-3_419delCAGTCCCCA deletion Pathogenic rs267608466 GRCh37 Chromosome X, 153296896: 153296904
38 MECP2 NM_004992.3(MECP2): c.1162C> G (p.Pro388Ala) single nucleotide variant Benign/Likely benign rs61753000 GRCh38 Chromosome X, 154030666: 154030666
39 MECP2 NM_004992.3(MECP2): c.1162C> G (p.Pro388Ala) single nucleotide variant Benign/Likely benign rs61753000 GRCh37 Chromosome X, 153296117: 153296117
40 MECP2 NM_004992.3(MECP2): c.568C> T (p.Arg190Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587783137 GRCh38 Chromosome X, 154031260: 154031260
41 MECP2 NM_004992.3(MECP2): c.568C> T (p.Arg190Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587783137 GRCh37 Chromosome X, 153296711: 153296711
42 MECP2 NM_001110792.1(MECP2): c.45_47dupAGG (p.Gly16dup) duplication Conflicting interpretations of pathogenicity rs587783744 GRCh37 Chromosome X, 153363076: 153363078
43 MECP2 NM_001110792.1(MECP2): c.45_47dupAGG (p.Gly16dup) duplication Conflicting interpretations of pathogenicity rs587783744 GRCh38 Chromosome X, 154097619: 154097621
44 MECP2 NM_004992.3(MECP2): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance rs786205037 GRCh38 Chromosome X, 154032207: 154032207
45 MECP2 NM_004992.3(MECP2): c.377A> G (p.Asn126Ser) single nucleotide variant Uncertain significance rs786205037 GRCh37 Chromosome X, 153297658: 153297658
46 MECP2 NM_001110792.1(MECP2): c.62+1G> A single nucleotide variant Pathogenic rs786205048 GRCh37 Chromosome X, 153363060: 153363060
47 MECP2 NM_001110792.1(MECP2): c.62+1G> A single nucleotide variant Pathogenic rs786205048 GRCh38 Chromosome X, 154097603: 154097603
48 MECP2 NM_001110792.1(MECP2): c.18_23dupCGCCGC (p.Ala8_Pro9insAlaAla) duplication Conflicting interpretations of pathogenicity rs398123566 GRCh37 Chromosome X, 153363100: 153363105
49 MECP2 NM_001110792.1(MECP2): c.18_23dupCGCCGC (p.Ala8_Pro9insAlaAla) duplication Conflicting interpretations of pathogenicity rs398123566 GRCh38 Chromosome X, 154097643: 154097648
50 MECP2 NM_004992.3(MECP2): c.1328C> T (p.Ala443Val) single nucleotide variant Uncertain significance rs375101073 GRCh38 Chromosome X, 154030500: 154030500

Expression for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

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