MCID: EPL025
MIFTS: 35

Epileptic Encephalopathy, Early Infantile, 2 malady

Neuronal, Ear categories

Summaries for Epileptic Encephalopathy, Early Infantile, 2

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Epileptic Encephalopathy, Early Infantile, 2, also known as rett syndrome, atypical, is related to rett syndrome and mental retardation, and has symptoms including microcephaly, long/large/bulbous nose and thin/hypoplastic ala nasi. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (cyclin-dependent kinase-like 5). Related mouse phenotypes are taste/olfaction and nervous system.

Description from OMIM:47 300672,312750,613454

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

Sources:
61UMLS, 49Orphanet, 20GeneTests, 22GTR, 47OMIM
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 61
rett syndrome, atypical 61
atypical rett syndrome 49
rett syndrome variant 49
rett syndrome 61
atypical rtt 49


External Ids:

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

Sources:
17GeneCards, 18GeneDecks
See all sources

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, 14
epileptic encephalopathy, early infantile, 16 epileptic encephalopathy, early infantile, 17
epileptic encephalopathy, early infantile, 7 epileptic encephalopathy, early infantile, 8
early infantile epileptic encephalopathy without suppression burst

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1rett syndrome32.1CDKL5, NTNG1, MECP2, FOXG1
2mental retardation30.6MECP2, CDKL5
3angelman syndrome29.9MECP2
4brain disease29.9CDKL5, MECP2
5microcephaly29.9CDKL5, MECP2, FOXG1
6n syndrome11.0
7atypical rett syndrome10.7
8classic rett syndrome10.7
9rett syndrome, congenital variant10.6
10micro syndrome10.6
11foxg1 syndrome10.5
12rett syndrome, preserved speech variant10.5
13char syndrome10.5
14autism spectrum disorder10.4
15null syndrome10.4
16rett syndrome and variant rett syndrome multi-gene panels10.3
17adult syndrome10.2
18down syndrome10.2
19mecp2 duplication syndrome10.2
20mecp2-related disorders10.2
21young syndrome10.2
22hypoxia10.2
23encephalopathy, neonatal severe10.2
24autistic disorder10.1
25osteoporosis10.1
26sleep disorder10.1
27developmental disabilities10.1
28mass syndrome10.1
29infantile neuronal ceroid lipofuscinosis10.1
30autonomic dysfunction10.1
31myoclonus10.1
3214q12 microdeletion syndrome10.1
33attention deficit hyperactivity disorder10.0
34stroke, ischemic10.0
35neurofibromatosis10.0
36bruxism10.0
37tuberous sclerosis10.0
38krabbe disease10.0
39muscular atrophy10.0
40fetal alcohol syndrome10.0
41conn's syndrome10.0
42renal tubular acidosis10.0
43arc syndrome10.0
44coffin-lowry syndrome10.0
45spinal muscular atrophy10.0
463-m syndrome10.0
47tuberous sclerosis complex10.0
48short syndrome10.0
49atypical mole syndrome10.0
50bod syndrome10.0

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300672,312750,613454

Clinical synopsis from OMIM:

300672

Symptoms:

49 (show all 24)
  • microcephaly
  • 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
  • fine hair
  • dysplastic/thick/grooved fingernails
  • 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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.4CDKL5, FOXG1
2MP:00036317.7CDKL5, NTNG1, MECP2, FOXG1

Publications for Epileptic Encephalopathy, Early Infantile, 2

Sources:
51PubMed
See all sources

Articles related to Epileptic Encephalopathy, Early Infantile, 2:

idTitleAuthorsYear
1
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. (23456534)
2014

Genetic Variations for Epileptic Encephalopathy, Early Infantile, 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

63 (show all 14)
id Symbol AA change Variation SNP ID
1CDKL5p.Cys152PheVAR_023560
2CDKL5p.Arg175SerVAR_023561
3CDKL5p.Pro180LeuVAR_037635
4CDKL5p.Val793AlaVAR_037636
5CDKL5p.Ala40ValVAR_058022
6CDKL5p.Ile72AsnVAR_058023
7CDKL5p.Ile72ThrVAR_058024
8CDKL5p.His127ArgVAR_058025
9CDKL5p.Arg178ProVAR_058026
10CDKL5p.Leu220ProVAR_058027
11CDKL5p.Thr288IleVAR_058028
12CDKL5p.Cys291TyrVAR_058029
13CDKL5p.Asn399ThrVAR_058030
14CDKL5p.Val718MetVAR_058032

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epileptic Encephalopathy, Early Infantile, 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet