MCID: EPL025
MIFTS: 43

Epileptic Encephalopathy, Early Infantile, 2 malady

Neuronal diseases, Ear diseases categories

Summaries for Epileptic Encephalopathy, Early Infantile, 2

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46OMIM, 32MalaCards
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MalaCards: Epileptic Encephalopathy, Early Infantile, 2, also known as rett syndrome, atypical, is related to rett syndrome and epilepsy syndrome, and has symptoms including gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia, urinary/renal lithiasis/kidney stones/nephritic colic and dilated cerebral ventricles without hydrocephaly. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (cyclin-dependent kinase-like 5). Affiliated tissues include kidney and cerebellum, and related mouse phenotypes are taste/olfaction and nervous system.

Description from OMIM:46 300672,312750,613454

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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60UMLS, 48Orphanet, 20GeneTests, 22GTR, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
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 20 22 46 60
rett syndrome, atypical 60
atypical rett syndrome 48
rett syndrome variant 48
rett syndrome 60
atypical rtt 48


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Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

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17GeneCards, 18GeneDecks
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Diseases in the Epileptic Encephalopathy, Early Infantile, 2 family:

Infantile Epileptic Encephalopathy Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 16
Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 8

Diseases related to Epileptic Encephalopathy, Early Infantile, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1rett syndrome32.1CDKL5, NTNG1, MECP2, FOXG1
2epilepsy syndrome30.8CDKL5, MECP2
3intellectual disability30.2CDKL5, MECP2
4angelman syndrome29.9MECP2
5brain disease29.9CDKL5, MECP2
6microcephaly29.9CDKL5, MECP2, FOXG1
7neuronitis10.7
8atypical rett syndrome10.6
9rett syndrome, congenital variant10.4
10autism spectrum disorder10.4
11rett syndrome and variant rett syndrome multi-gene panels10.3
12adult syndrome10.2
13image syndrome10.2
14mecp2 duplication syndrome10.2
15encephalopathy, neonatal severe10.2
16autistic disorder10.1
17cerebritis10.1
18down syndrome10.1
19osteoporosis10.1
20diabetes mellitus10.1
21neuronal ceroid lipofuscinosis10.1
22sleep disorder10.1
23developmental disabilities10.1
24classic rett syndrome10.1
25rett syndrome, preserved speech variant10.1
26attention deficit hyperactivity disorder10.0
27stroke, ischemic10.0
28neurofibromatosis10.0
29bruxism10.0
30tuberous sclerosis10.0
31gilles de la tourette syndrome10.0
32krabbe disease10.0
33muscular atrophy10.0
34type 1 diabetes mellitus10.0
35fetal alcohol syndrome10.0
36fragile x syndrome10.0
37renal tubular acidosis10.0
38coffin-lowry syndrome10.0
39chromosomal disease10.0
40constipation10.0
41pervasive developmental disorder10.0
42spinal muscular atrophy10.0
43ppm-x syndrome10.0
44prion disease10.0CDKL5
45gait apraxia10.0CDKL5, MECP2
46infantile epileptic encephalopathy10.0MECP2, CDKL5
47mental retardation10.0MECP2, CDKL5

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 2:



Diseases related to epileptic encephalopathy, early infantile, 2

Clinical Features for Epileptic Encephalopathy, Early Infantile, 2

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300672,312750,613454

Clinical synopsis from OMIM:

300672

Symptoms:

48 (show all 24)
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • eeg anomalies
  • movement disorder
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • dysplastic/thick/grooved fingernails
  • fine hair
  • long/large/bulbous nose
  • thin/hypoplastic ala nasi
  • macrostomia/big mouth
  • thick lips
  • long philtrum
  • anomalies of ear and hearing
  • antitragus abnormal
  • hearing loss/hypoacusia/deafness
  • metacarpal anomalies/archibald's sign
  • camptodactyly of some fingers
  • clinodactyly of fifth finger
  • microcephaly

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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Genetic tests related to Epileptic Encephalopathy, Early Infantile, 2:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 220 CDKL5
2 Early Infantile Epileptic Encephalopathy 222

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

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32MalaCards
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MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 2:

32
Kidney, Cerebellum

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

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36MGI
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MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4CDKL5, FOXG1
2MP:00036317.7CDKL5, NTNG1, MECP2, FOXG1

Publications for Epileptic Encephalopathy, Early Infantile, 2

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Genetic Variations for Epileptic Encephalopathy, Early Infantile, 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

62 (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

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 2.

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epileptic Encephalopathy, Early Infantile, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet