MCID: EPL025
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 2 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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Epileptic Encephalopathy, Early Infantile, 2, Aliases & Descriptions:

Name: Epileptic Encephalopathy, Early Infantile, 2 45 10 20 22


Classifications:

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


External Ids:

OMIM45 300672

Summaries for Epileptic Encephalopathy, Early Infantile, 2

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OMIM:45 EIEE2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life... (300672) more...

MalaCards based summary: Epileptic Encephalopathy, Early Infantile, 2 and has symptoms including thick lower lip vermilion, progressive microcephaly and broad forehead. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (cyclin-dependent kinase-like 5). Affiliated tissues include eye.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

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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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Symptoms by clinical synopsis from OMIM:

300672

Clinical features from OMIM:

300672

HPO human phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

(show all 27)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion HP:0000179
2 progressive microcephaly HP:0000253
3 broad forehead HP:0000337
4 anteverted nares HP:0000463
5 deeply set eye HP:0000490
6 stereotypic behavior HP:0000733
7 poor eye contact HP:0000817
8 tapered finger HP:0001182
9 muscular hypotonia HP:0001252
10 global developmental delay HP:0001263
11 myoclonus HP:0001336
12 x-linked dominant inheritance HP:0001423
13 short foot HP:0001773
14 constipation HP:0002019
15 gastroesophageal reflux HP:0002020
16 generalized myoclonic seizures HP:0002123
17 intellectual disability, profound HP:0002187
18 developmental regression HP:0002376
19 hypsarrhythmia HP:0002521
20 inability to walk HP:0002540
21 scoliosis HP:0002650
22 hyperventilation HP:0002883
23 infantile onset HP:0003593
24 short palm HP:0004279
25 prominent forehead HP:0011220
26 infantile spasms HP:0012469
27 small hand HP:0200055

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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Drug clinical trials:

Search ClinicalTrials for Epileptic Encephalopathy, Early Infantile, 2

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

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

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

31
Eye

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

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Publications for Epileptic Encephalopathy, Early Infantile, 2

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Variations for Epileptic Encephalopathy, Early Infantile, 2

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

62 (show all 14)
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
14CDKL5p.Arg178GlnVAR_071103

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

6 (show all 14)
id Gene Variation 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 variantPathogenicrs62641235GRCh37Chr 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
14CDKL5NM_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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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
  • Proteins
  • Kits and Assays

Sources for Epileptic Encephalopathy, Early Infantile, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet