EIEE9
MCID: EPL029
MIFTS: 40

Epileptic Encephalopathy, Early Infantile, 9 (EIEE9)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 9

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 9:

Name: Epileptic Encephalopathy, Early Infantile, 9 58 76 13
Early Infantile Epileptic Encephalopathy 9 12 30 6 15
Efmr 58 12 60 76
Eiee9 58 12 76
Epilepsy, Female-Restricted, with Mental Retardation 58 74
Juberg-Hellman Syndrome 58 60
Epilepsy, Female-Restricted, with Mental Retardation; Efmr 58
Early Infantile Female-Limited Epilecptic Encephalopathy 12
Female Restricted Epilepsy with Intellectual Disability 60
Female Restricted Epilepsy with Mental Retardation 12
Epilepsy Female-Restricted with Mental Retardation 76
Encephalopathy, Epileptic, Early Infantile, Type 9 41
Convulsive Disorder and Mental Retardation 76
Juberg Hellman Syndrome 12

Characteristics:

OMIM:

58
Inheritance:
x-linked

Miscellaneous:
intellectual disability is variable
seizure onset at a mean of 14 months (range 6 to 36 months)
some patients have cessation of seizures at a mean of 12 years
carrier males are unaffected except for psychiatric/behavioral abnormalities


HPO:

33
epileptic encephalopathy, early infantile, 9:
Onset and clinical course infantile onset
Inheritance x-linked inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 9

OMIM : 58 Epileptic encephalopathy-9 is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300088)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 9, also known as early infantile epileptic encephalopathy 9, is related to early infantile epileptic encephalopathy and encephalopathy, and has symptoms including absence seizures, myoclonic seizures and convulsive seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 9 is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Naphthalene metabolism. Affiliated tissues include testes, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 9: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.

Wikipedia : 77 Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic... more...

Related Diseases for Epileptic Encephalopathy, Early Infantile, 9

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71

Diseases related to Epileptic Encephalopathy, Early Infantile, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 30.0 CDKL5 PCDH19 SCN1A
2 encephalopathy 29.8 CDKL5 MECP2 PCDH19 SCN1A
3 epilepsy 29.4 CDKL5 MECP2 PCDH19 SCN1A SRPX2
4 pcdh19-related female-limited epilepsy 11.5
5 febrile infection-related epilepsy syndrome 10.3 PCDH19 SCN1A
6 hyperphosphatasia-intellectual disability syndrome 10.2 PIGO PIGV
7 epilepsy, idiopathic generalized 10.1 PCDH10 PCDH19 SCN1A
8 neonatal period electroclinical syndrome 10.0 CDKL5 SCN1A
9 gait apraxia 10.0 CDKL5 MECP2
10 infancy electroclinical syndrome 9.9 CDKL5 PCDH10 PCDH19 SCN1A
11 epileptic encephalopathy, early infantile, 6 9.9 CDKL5 PCDH10 PCDH19 SCN1A
12 seizure disorder 9.9 CDKL5 MECP2 SCN1A
13 bruxism 9.9 CDKL5 MECP2
14 visual epilepsy 9.8 CDKL5 MECP2 SCN1A
15 x-linked non-specific intellectual disability 9.8 MECP2 TSPAN7
16 west syndrome 9.8 CDKL5 MECP2 SCN1A

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 9:



Diseases related to Epileptic Encephalopathy, Early Infantile, 9

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 9

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 9:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 frequent (33%) HP:0001249
2 global developmental delay 33 frequent (33%) HP:0001263
3 developmental regression 33 HP:0002376
4 generalized myoclonic seizures 33 HP:0002123
5 generalized tonic-clonic seizures 33 HP:0002069
6 psychosis 33 HP:0000709
7 aggressive behavior 33 HP:0000718
8 status epilepticus 33 HP:0002133
9 atonic seizures 33 HP:0010819
10 focal-onset seizure 33 HP:0007359
11 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
psychosis
autistic features
aggression
obsessive features
carrier males show rigid personality
more
Metabolic Features:
seizures often associated with fever (63%)

Neurologic Central Nervous System:
status epilepticus
seizures, myoclonic
delayed development, variable severity, from birth in some patients
developmental regression in about 50% of patients
normal development in some patients
more

Clinical features from OMIM:

300088

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 9:


absence seizures, myoclonic seizures, convulsive seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 9

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 9

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 9

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 9:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 9 30 PCDH19

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 9

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 9:

42
Testes

Publications for Epileptic Encephalopathy, Early Infantile, 9

Articles related to Epileptic Encephalopathy, Early Infantile, 9:

# Title Authors Year
1
The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9). ( 30431232 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 9

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 9:

76 (show all 35)
# Symbol AA change Variation ID SNP ID
1 PCDH19 p.Val441Glu VAR_046484 rs132630323
2 PCDH19 p.Asn557Lys VAR_046485 rs267606933
3 PCDH19 p.Asp121Asn VAR_064481 rs796052795
4 PCDH19 p.Glu199Gln VAR_064482
5 PCDH19 p.His203Pro VAR_064483
6 PCDH19 p.Phe206Cys VAR_064484 rs746274631
7 PCDH19 p.Ser276Pro VAR_064485
8 PCDH19 p.Asn340Ser VAR_064486 rs796052839
9 PCDH19 p.Asp377His VAR_064487
10 PCDH19 p.Thr404Ile VAR_064488
11 PCDH19 p.Glu414Gln VAR_064489
12 PCDH19 p.Leu543Pro VAR_064490
13 PCDH19 p.Leu81Arg VAR_064840
14 PCDH19 p.Thr146Arg VAR_064842 rs796052799
15 PCDH19 p.Phe206Tyr VAR_064843
16 PCDH19 p.Glu249Asp VAR_064844
17 PCDH19 p.Asp341Glu VAR_064845
18 PCDH19 p.Pro561Arg VAR_064846 rs796052819
19 PCDH19 p.Pro567Leu VAR_064847 rs201989363
20 PCDH19 p.Asp618Asn VAR_064848
21 PCDH19 p.Leu25Pro VAR_067472
22 PCDH19 p.Val72Gly VAR_067473
23 PCDH19 p.Ala153Thr VAR_067474
24 PCDH19 p.Leu190Arg VAR_067475
25 PCDH19 p.Val191Leu VAR_067476 rs753757730
26 PCDH19 p.Asn232Ser VAR_067477 rs587784299
27 PCDH19 p.Asn234Ser VAR_067478
28 PCDH19 p.Pro236Ser VAR_067479
29 PCDH19 p.Ala262Asp VAR_067480
30 PCDH19 p.Pro344Arg VAR_067481
31 PCDH19 p.Asp377Glu VAR_067482
32 PCDH19 p.Leu433Pro VAR_067483
33 PCDH19 p.Gly513Arg VAR_067484
34 PCDH19 p.Val642Met VAR_067485
35 PCDH19 p.Pro236Leu VAR_078724

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 9:

6 (show top 50) (show all 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH19 NM_001105243.1(PCDH19): c.2834C> A (p.Ala945Glu) single nucleotide variant Uncertain significance rs371109150 GRCh37 Chromosome X, 99551747: 99551747
2 PCDH19 NM_001105243.1(PCDH19): c.2834C> A (p.Ala945Glu) single nucleotide variant Uncertain significance rs371109150 GRCh38 Chromosome X, 100296749: 100296749
3 PCDH19 NM_001105243.1(PCDH19): c.2601A> G (p.Gln867=) single nucleotide variant Uncertain significance rs61742914 GRCh37 Chromosome X, 99597007: 99597007
4 PCDH19 NM_001105243.1(PCDH19): c.2601A> G (p.Gln867=) single nucleotide variant Uncertain significance rs61742914 GRCh38 Chromosome X, 100342009: 100342009
5 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh37 Chromosome X, 99657779: 99657779
6 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh38 Chromosome X, 100402781: 100402781
7 PCDH19 NM_001105243.1(PCDH19): c.1969C> T (p.Leu657Phe) single nucleotide variant Uncertain significance rs587784296 GRCh37 Chromosome X, 99661627: 99661627
8 PCDH19 NM_001105243.1(PCDH19): c.1969C> T (p.Leu657Phe) single nucleotide variant Uncertain significance rs587784296 GRCh38 Chromosome X, 100406629: 100406629
9 PCDH19 NM_001105243.1(PCDH19): c.1548C> T (p.Tyr516=) single nucleotide variant Uncertain significance rs587784295 GRCh37 Chromosome X, 99662048: 99662048
10 PCDH19 NM_001105243.1(PCDH19): c.1548C> T (p.Tyr516=) single nucleotide variant Uncertain significance rs587784295 GRCh38 Chromosome X, 100407050: 100407050
11 PCDH19 NM_001105243.1(PCDH19): c.790G> T (p.Asp264Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs587784300 GRCh37 Chromosome X, 99662806: 99662806
12 PCDH19 NM_001105243.1(PCDH19): c.790G> T (p.Asp264Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs587784300 GRCh38 Chromosome X, 100407808: 100407808
13 PCDH19 NM_001105243.1(PCDH19): c.695A> T (p.Asn232Ile) single nucleotide variant Likely pathogenic rs587784299 GRCh37 Chromosome X, 99662901: 99662901
14 PCDH19 NM_001105243.1(PCDH19): c.695A> T (p.Asn232Ile) single nucleotide variant Likely pathogenic rs587784299 GRCh38 Chromosome X, 100407903: 100407903
15 PCDH19 NM_001105243.1(PCDH19): c.686C> T (p.Thr229Ile) single nucleotide variant Uncertain significance rs587784298 GRCh37 Chromosome X, 99662910: 99662910
16 PCDH19 NM_001105243.1(PCDH19): c.686C> T (p.Thr229Ile) single nucleotide variant Uncertain significance rs587784298 GRCh38 Chromosome X, 100407912: 100407912
17 PCDH19 NM_001105243.1(PCDH19): c.497A> T (p.Tyr166Phe) single nucleotide variant Uncertain significance rs587784297 GRCh37 Chromosome X, 99663099: 99663099
18 PCDH19 NM_001105243.1(PCDH19): c.497A> T (p.Tyr166Phe) single nucleotide variant Uncertain significance rs587784297 GRCh38 Chromosome X, 100408101: 100408101
19 PCDH19 NM_001184880.1(PCDH19): c.545G> C (p.Gly182Ala) single nucleotide variant Uncertain significance rs727504067 GRCh37 Chromosome X, 99663051: 99663051
20 PCDH19 NM_001184880.1(PCDH19): c.545G> C (p.Gly182Ala) single nucleotide variant Uncertain significance rs727504067 GRCh38 Chromosome X, 100408053: 100408053
21 PCDH19 NM_001105243.1(PCDH19): c.769G> C (p.Val257Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201713027 GRCh37 Chromosome X, 99662827: 99662827
22 PCDH19 NM_001105243.1(PCDH19): c.769G> C (p.Val257Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201713027 GRCh38 Chromosome X, 100407829: 100407829
23 PCDH19 NM_001184880.1(PCDH19): c.559T> G (p.Phe187Val) single nucleotide variant Uncertain significance rs764980282 GRCh37 Chromosome X, 99663037: 99663037
24 PCDH19 NM_001184880.1(PCDH19): c.559T> G (p.Phe187Val) single nucleotide variant Uncertain significance rs764980282 GRCh38 Chromosome X, 100408039: 100408039
25 PCDH19 NM_001184880.1(PCDH19): c.3400A> C (p.Asn1134His) single nucleotide variant Benign rs141816797 GRCh37 Chromosome X, 99551322: 99551322
26 PCDH19 NM_001184880.1(PCDH19): c.3400A> C (p.Asn1134His) single nucleotide variant Benign rs141816797 GRCh38 Chromosome X, 100296324: 100296324
27 PCDH19 NM_001184880.1(PCDH19): c.3127A> T (p.Ile1043Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs189342249 GRCh38 Chromosome X, 100296597: 100296597
28 PCDH19 NM_001184880.1(PCDH19): c.3127A> T (p.Ile1043Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs189342249 GRCh37 Chromosome X, 99551595: 99551595
29 PCDH19 NM_001184880.1(PCDH19): c.2873G> A (p.Arg958Gln) single nucleotide variant Benign/Likely benign rs748581653 GRCh38 Chromosome X, 100296851: 100296851
30 PCDH19 NM_001184880.1(PCDH19): c.2873G> A (p.Arg958Gln) single nucleotide variant Benign/Likely benign rs748581653 GRCh37 Chromosome X, 99551849: 99551849
31 PCDH19 NM_001105243.1(PCDH19): c.2258delA (p.Asn753Thrfs) deletion Pathogenic rs796052836 GRCh37 Chromosome X, 99657739: 99657739
32 PCDH19 NM_001105243.1(PCDH19): c.2258delA (p.Asn753Thrfs) deletion Pathogenic rs796052836 GRCh38 Chromosome X, 100402741: 100402741
33 PCDH19 NM_001184880.1(PCDH19): c.2024T> G (p.Val675Gly) single nucleotide variant Likely benign rs780704524 GRCh37 Chromosome X, 99661572: 99661572
34 PCDH19 NM_001184880.1(PCDH19): c.2024T> G (p.Val675Gly) single nucleotide variant Likely benign rs780704524 GRCh38 Chromosome X, 100406574: 100406574
35 PCDH19 NM_001184880.1(PCDH19): c.1968T> A (p.Ala656=) single nucleotide variant Benign/Likely benign rs776150934 GRCh38 Chromosome X, 100406630: 100406630
36 PCDH19 NM_001184880.1(PCDH19): c.1968T> A (p.Ala656=) single nucleotide variant Benign/Likely benign rs776150934 GRCh37 Chromosome X, 99661628: 99661628
37 PCDH19 NM_001184880.1(PCDH19): c.1618C> T (p.Leu540Phe) single nucleotide variant Benign/Likely benign rs374593325 GRCh38 Chromosome X, 100406980: 100406980
38 PCDH19 NM_001184880.1(PCDH19): c.1618C> T (p.Leu540Phe) single nucleotide variant Benign/Likely benign rs374593325 GRCh37 Chromosome X, 99661978: 99661978
39 PCDH19 NM_001184880.1(PCDH19): c.1294A> G (p.Met432Val) single nucleotide variant Benign/Likely benign rs200728466 GRCh38 Chromosome X, 100407304: 100407304
40 PCDH19 NM_001184880.1(PCDH19): c.1294A> G (p.Met432Val) single nucleotide variant Benign/Likely benign rs200728466 GRCh37 Chromosome X, 99662302: 99662302
41 PCDH19 NM_001184880.1(PCDH19): c.1164G> T (p.Leu388Phe) single nucleotide variant Uncertain significance rs763059359 GRCh38 Chromosome X, 100407434: 100407434
42 PCDH19 NM_001184880.1(PCDH19): c.1164G> T (p.Leu388Phe) single nucleotide variant Uncertain significance rs763059359 GRCh37 Chromosome X, 99662432: 99662432
43 PCDH19 NM_001184880.1(PCDH19): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052812 GRCh37 Chromosome X, 99662482: 99662482
44 PCDH19 NM_001184880.1(PCDH19): c.1114C> T (p.Arg372Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs796052812 GRCh38 Chromosome X, 100407484: 100407484
45 PCDH19 NM_001184880.1(PCDH19): c.1091dupC (p.Tyr366Leufs) duplication Pathogenic rs758946412 GRCh37 Chromosome X, 99662505: 99662505
46 PCDH19 NM_001184880.1(PCDH19): c.1091dupC (p.Tyr366Leufs) duplication Pathogenic rs758946412 GRCh38 Chromosome X, 100407507: 100407507
47 PCDH19 NM_001105243.1(PCDH19): c.1059_1062delTGAG (p.Glu354Leufs) deletion Pathogenic rs796052828 GRCh38 Chromosome X, 100407536: 100407539
48 PCDH19 NM_001105243.1(PCDH19): c.1059_1062delTGAG (p.Glu354Leufs) deletion Pathogenic rs796052828 GRCh37 Chromosome X, 99662534: 99662537
49 PCDH19 NM_001184880.1(PCDH19): c.1019A> G (p.Asn340Ser) single nucleotide variant Pathogenic rs796052839 GRCh37 Chromosome X, 99662577: 99662577
50 PCDH19 NM_001184880.1(PCDH19): c.1019A> G (p.Asn340Ser) single nucleotide variant Pathogenic rs796052839 GRCh38 Chromosome X, 100407579: 100407579

Expression for Epileptic Encephalopathy, Early Infantile, 9

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 9.

Pathways for Epileptic Encephalopathy, Early Infantile, 9

Pathways related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.77 PIGO PIGV
2 10.34 AKR1C1 AKR1C3
3 9.77 AKR1C1 AKR1C3

GO Terms for Epileptic Encephalopathy, Early Infantile, 9

Biological processes related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.58 CDH17 PCDH10 PCDH19
2 GPI anchor biosynthetic process GO:0006506 9.43 PIGO PIGV
3 neuromuscular process controlling posture GO:0050884 9.37 MECP2 SCN1A
4 retinal metabolic process GO:0042574 9.32 AKR1C1 AKR1C3
5 progesterone metabolic process GO:0042448 9.26 AKR1C1 AKR1C3
6 daunorubicin metabolic process GO:0044597 9.16 AKR1C1 AKR1C3
7 doxorubicin metabolic process GO:0044598 8.96 AKR1C1 AKR1C3
8 cellular response to jasmonic acid stimulus GO:0071395 8.62 AKR1C1 AKR1C3

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.46 AKR1C1 AKR1C3
2 aldo-keto reductase (NADP) activity GO:0004033 9.43 AKR1C1 AKR1C3
3 alcohol dehydrogenase (NADP+) activity GO:0008106 9.4 AKR1C1 AKR1C3
4 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.37 AKR1C1 AKR1C3
5 steroid dehydrogenase activity GO:0016229 9.32 AKR1C1 AKR1C3
6 ketosteroid monooxygenase activity GO:0047086 9.26 AKR1C1 AKR1C3
7 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity GO:0047115 9.16 AKR1C1 AKR1C3
8 indanol dehydrogenase activity GO:0047718 8.96 AKR1C1 AKR1C3
9 phenanthrene 9,10-monooxygenase activity GO:0018636 8.62 AKR1C1 AKR1C3

Sources for Epileptic Encephalopathy, Early Infantile, 9

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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