MCID: EPL025
MIFTS: 40

Epileptic Encephalopathy, Early Infantile, 2 malady

Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases categories

Summaries for Epileptic Encephalopathy, Early Infantile, 2

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48OMIM, 34MalaCards
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MalaCards: Epileptic Encephalopathy, Early Infantile, 2, also known as rett syndrome, atypical, is related to rett syndrome and atypical rett syndrome, and has symptoms including failure to thrive/difficulties for feeding in infancy/growth delay, microcephaly and short hand/brachydactyly. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (cyclin-dependent kinase-like 5). Affiliated tissues include eye, and related mouse phenotypes are hearing/vestibular/ear and taste/olfaction.

Description from OMIM:48 300672,312750,613454

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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63UMLS, 50Orphanet, 21GeneTests, 23GTR, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
atypical rett syndrome:
Inheritance: Autosomal dominant,X-linked dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

epileptic encephalopathy, early infantile, 2 21 23 48 63
rett syndrome, atypical 63
atypical rett syndrome 50
rett syndrome variant 50
rett syndrome 63
atypical rtt 50


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Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Epileptic Encephalopathy, Early Infantile, 2:



Diseases related to epileptic encephalopathy, early infantile, 2

Symptoms for Epileptic Encephalopathy, Early Infantile, 2

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300672

Clinical features from OMIM:

300672,312750,613454

Symptoms:

50 (show all 30)
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • cardiac rhythm disorder/arrhythmia
  • dysautonomia/autonomous nervous sytem anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autism/autistic disoders
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • generalized obesity
  • early death/lethality
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • sleep and vigilance disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • tics/stereotypias
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • anomalies of eyes and vision
  • scoliosis
  • fine hair
  • respiratory rhythm disorder
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • eeg anomalies
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • movement disorder

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Epileptic Encephalopathy, Early Infantile, 2

Drug clinical trials:

Search ClinicalTrials for Epileptic Encephalopathy, Early Infantile, 2

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 2

Search CenterWatch for Epileptic Encephalopathy, Early Infantile, 2

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

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21GeneTests, 23GTR
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Genetic tests related to Epileptic Encephalopathy, Early Infantile, 2:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 221 CDKL5
2 Early Infantile Epileptic Encephalopathy 223

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

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34MalaCards
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MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 2:

34
Eye

Animal Models for Epileptic Encephalopathy, Early Infantile, 2 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1MECP2, FOXG1
2MP:00053949.0CDKL5, FOXG1
3MP:00053868.3MECP2, FOXG1, CDKL5
4MP:00036318.0CDKL5, MECP2, FOXG1, NTNG1

Publications for Epileptic Encephalopathy, Early Infantile, 2

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Variations for Epileptic Encephalopathy, Early Infantile, 2

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

65 (show all 13)
id Symbol AA change Variation ID SNP ID
1CDKL5p.Cys152PheVAR_023560
2CDKL5p.Arg175SerVAR_023561
3CDKL5p.Pro180LeuVAR_037635
4CDKL5p.Ala40ValVAR_058022
5CDKL5p.Ile72AsnVAR_058023
6CDKL5p.Ile72ThrVAR_058024
7CDKL5p.His127ArgVAR_058025
8CDKL5p.Arg178ProVAR_058026
9CDKL5p.Leu220ProVAR_058027
10CDKL5p.Thr288IleVAR_058028
11CDKL5p.Cys291TyrVAR_058029
12CDKL5p.Asn399ThrVAR_058030
13CDKL5p.Val718MetVAR_058032

Clinvar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

1 (show all 28)
id Gene Name Type Significance SNP ID Assembly Location
1CDKL5CDKL5, 1-BP DEL, 183TdeletionPathogenic
2CDKL5CDKL5, IVSAS13, G-A, -1single nucleotide variantPathogenic
3CDKL5NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe)single nucleotide variantPathogenicrs122460157GRCh37Chr X, 18600062: 18600062
4CDKL5NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser)single nucleotide variantPathogenicrs61749700GRCh37Chr X, 18602444: 18602444
5CDKL5CDKL5, 4-BP DEL, 166GAAAdeletionPathogenic
6CDKL5CDKL5, 2-BP DEL, 2636CTdeletionPathogenic
7CDKL5NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter)single nucleotide variantPathogenicrs122460158GRCh37Chr X, 18646494: 18646494
8CDKL5CDKL5, IVS6AS, G-T, -1single nucleotide variantPathogenic
9CDKL5NM_003159.2(CDKL5): c.119C> T (p.Ala40Val)single nucleotide variantPathogenicrs122460159GRCh37Chr X, 18582616: 18582616
10CDKL5NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr)single nucleotide variantPathogenic, Uncertain significancers62641235GRCh37Chr X, 18593543: 18593543
11CDKL5NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile)single nucleotide variantPathogenicrs267606713GRCh37Chr X, 18616619: 18616619
12CDKL5NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr)single nucleotide variantPathogenicrs267606714GRCh37Chr X, 18616628: 18616628
13CDKL5CDKL5, 2-BP INS, 903GAinsertionPathogenic
14MECP2NM_001110792.1(MECP2): c.433C> T (p.Arg145Cys)single nucleotide variantPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
15MECP2NM_001110792.1(MECP2): c.500T> C (p.Phe167Ser)single nucleotide variantPathogenicrs28934905GRCh37Chr X, 153296815: 153296815
16MECP2NM_001110792.1(MECP2): c.509C> T (p.Thr170Met)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
17MECP2NM_001110792.1(MECP2): c.352C> T (p.Arg118Trp)single nucleotide variantPathogenicrs28934907GRCh37Chr X, 153297719: 153297719
18MECP2NM_001110792.1(MECP2): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
19MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
20MECP2NM_001110792.1(MECP2): c.455C> T (p.Ala152Val)single nucleotide variantPathogenicrs28934908GRCh37Chr X, 153296860: 153296860
21MECP2NM_001110792.1(MECP2): c.952C> T (p.Arg318Cys)single nucleotide variantPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
22MECP2NM_001110792.1(MECP2): c.538C> T (p.Arg180Ter)single nucleotide variantPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
23MECP2NM_001110792.1(MECP2): c.799C> T (p.Arg267Ter)single nucleotide variantPathogenicrs61749721GRCh37Chr X, 153296516: 153296516
24MECP2NM_001110792.1(MECP2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs104894864GRCh37Chr X, 153295916: 153295916
25MECP2NM_001110792.1(MECP2): c.334C> G (p.Leu112Val)single nucleotide variantPathogenicrs28935168GRCh37Chr X, 153297737: 153297737
26MECP2NM_001110792.1(MECP2): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs179363901GRCh37Chr X, 153363118: 153363118
27MECP2NM_001110792.1(MECP2): c.746delG (p.Gly249Valfs)deletionPathogenicrs61749743GRCh37Chr X, 153296569: 153296569
28CDKL5NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro)single nucleotide variantPathogenicrs267606715GRCh37Chr X, 18602452: 18602452

Expression for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Pathways for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Compounds for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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GO Terms for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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17Gene Ontology
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Biological processes related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription, DNA-templatedGO:0458929.1FOXG1, MECP2

Products for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Sources for Epileptic Encephalopathy, Early Infantile, 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet