EIEE9
MCID: EPL029
MIFTS: 44

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 myoclonic seizures, absence 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, liver and eye, 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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

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 30.1 CDKL5 PCDH19 SCN1A
2 encephalopathy 29.8 CDKL5 MECP2 PCDH19 SCN1A
3 epilepsy 29.5 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:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 60 33 frequent (33%) Occasional (29-5%) HP:0001263
3 generalized myoclonic seizures 60 33 Occasional (29-5%) HP:0002123
4 generalized tonic-clonic seizures 60 33 Frequent (79-30%) HP:0002069
5 psychosis 60 33 Very rare (<4-1%) HP:0000709
6 absence seizure 60 33 Occasional (29-5%) HP:0002121
7 aggressive behavior 60 33 Frequent (79-30%) HP:0000718
8 status epilepticus 60 33 Frequent (79-30%) HP:0002133
9 atonic seizures 60 33 Occasional (29-5%) HP:0010819
10 developmental regression 33 HP:0002376
11 behavioral abnormality 60 Frequent (79-30%)
12 delayed speech and language development 60 Frequent (79-30%)
13 intellectual disability, mild 60 Occasional (29-5%)
14 intellectual disability, severe 60 Occasional (29-5%)
15 anxiety 60 Frequent (79-30%)
16 motor delay 60 Frequent (79-30%)
17 intellectual disability, moderate 60 Occasional (29-5%)
18 generalized tonic seizures 60 Frequent (79-30%)
19 febrile seizures 60 Very frequent (99-80%)
20 atypical absence seizure 60 Occasional (29-5%)
21 focal-onset seizure 33 HP:0007359
22 obsessive-compulsive behavior 60 Frequent (79-30%)
23 intellectual disability, profound 60 Occasional (29-5%)
24 abnormal social behavior 60 Frequent (79-30%)
25 autistic behavior 60 Occasional (29-5%)
26 hyperactivity 60 Occasional (29-5%)
27 impulsivity 60 Occasional (29-5%)
28 focal seizures, afebril 60 Occasional (29-5%)
29 complex febrile seizures 60 Occasional (29-5%)
30 abnormal eating behavior 60 Very rare (<4-1%)
31 generalized clonic seizures 60 Frequent (79-30%)

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:


myoclonic seizures, absence 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, Liver, Eye

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
2
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. ( 19752159 )
2010
3
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. ( 19214208 )
2009
4
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. ( 18469813 )
2008
5
A new familial form of convulsive disorder and mental retardation limited to females. ( 5116697 )
1971

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 278)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH19 NM_001184880.1(PCDH19): c.1322T> A (p.Val441Glu) single nucleotide variant Pathogenic rs132630323 GRCh37 Chromosome X, 99662274: 99662274
2 PCDH19 NM_001184880.1(PCDH19): c.1322T> A (p.Val441Glu) single nucleotide variant Pathogenic rs132630323 GRCh38 Chromosome X, 100407276: 100407276
3 PCDH19 NM_001184880.1(PCDH19): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs132630324 GRCh37 Chromosome X, 99663343: 99663343
4 PCDH19 NM_001184880.1(PCDH19): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs132630324 GRCh38 Chromosome X, 100408345: 100408345
5 PCDH19 NM_001184880.1(PCDH19): c.2012C> G (p.Ser671Ter) single nucleotide variant Pathogenic rs132630325 GRCh37 Chromosome X, 99661584: 99661584
6 PCDH19 NM_001184880.1(PCDH19): c.2012C> G (p.Ser671Ter) single nucleotide variant Pathogenic rs132630325 GRCh38 Chromosome X, 100406586: 100406586
7 PCDH19 NM_001184880.1(PCDH19): c.2030dup (p.Leu677Phefs) duplication Pathogenic GRCh38 Chromosome X, 100406568: 100406568
8 PCDH19 NM_001184880.1(PCDH19): c.2030dup (p.Leu677Phefs) duplication Pathogenic GRCh37 Chromosome X, 99661566: 99661566
9 PCDH19 NM_001184880.1(PCDH19): c.142G> T (p.Glu48Ter) single nucleotide variant Pathogenic rs132630326 GRCh37 Chromosome X, 99663454: 99663454
10 PCDH19 NM_001184880.1(PCDH19): c.142G> T (p.Glu48Ter) single nucleotide variant Pathogenic rs132630326 GRCh38 Chromosome X, 100408456: 100408456
11 PCDH19 PCDH19, 5-BP DUP, NT1036 duplication Pathogenic
12 PCDH19 NM_001184880.1(PCDH19): c.1671C> G (p.Asn557Lys) single nucleotide variant Pathogenic rs267606933 GRCh37 Chromosome X, 99661925: 99661925
13 PCDH19 NM_001184880.1(PCDH19): c.1671C> G (p.Asn557Lys) single nucleotide variant Pathogenic rs267606933 GRCh38 Chromosome X, 100406927: 100406927
14 PCDH19 NM_001105243.1(PCDH19): c.1137C> T (p.Gly379=) single nucleotide variant Benign rs56277715 GRCh37 Chromosome X, 99662459: 99662459
15 PCDH19 NM_001105243.1(PCDH19): c.1137C> T (p.Gly379=) single nucleotide variant Benign rs56277715 GRCh38 Chromosome X, 100407461: 100407461
16 PCDH19 NM_001105243.1(PCDH19): c.1627C> T (p.Leu543=) single nucleotide variant Benign rs1953337 GRCh37 Chromosome X, 99661969: 99661969
17 PCDH19 NM_001105243.1(PCDH19): c.1627C> T (p.Leu543=) single nucleotide variant Benign rs1953337 GRCh38 Chromosome X, 100406971: 100406971
18 PCDH19 NM_001105243.1(PCDH19): c.1683G> A (p.Pro561=) single nucleotide variant Conflicting interpretations of pathogenicity rs192354176 GRCh37 Chromosome X, 99661913: 99661913
19 PCDH19 NM_001105243.1(PCDH19): c.1683G> A (p.Pro561=) single nucleotide variant Conflicting interpretations of pathogenicity rs192354176 GRCh38 Chromosome X, 100406915: 100406915
20 PCDH19 NM_001105243.1(PCDH19): c.2328G> A (p.Leu776=) single nucleotide variant Benign rs61744561 GRCh37 Chromosome X, 99657669: 99657669
21 PCDH19 NM_001105243.1(PCDH19): c.2328G> A (p.Leu776=) single nucleotide variant Benign rs61744561 GRCh38 Chromosome X, 100402671: 100402671
22 PCDH19 NM_001184880.1(PCDH19): c.3235C> G (p.Pro1079Ala) single nucleotide variant Likely benign rs200854927 GRCh37 Chromosome X, 99551487: 99551487
23 PCDH19 NM_001184880.1(PCDH19): c.3235C> G (p.Pro1079Ala) single nucleotide variant Likely benign rs200854927 GRCh38 Chromosome X, 100296489: 100296489
24 PCDH19 NM_001184880.1(PCDH19): c.3319C> G (p.Arg1107Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191333060 GRCh37 Chromosome X, 99551403: 99551403
25 PCDH19 NM_001184880.1(PCDH19): c.3319C> G (p.Arg1107Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191333060 GRCh38 Chromosome X, 100296405: 100296405
26 PCDH19 NM_001184880.1(PCDH19): c.655C> T (p.Leu219=) single nucleotide variant Benign/Likely benign rs377627937 GRCh37 Chromosome X, 99662941: 99662941
27 PCDH19 NM_001184880.1(PCDH19): c.655C> T (p.Leu219=) single nucleotide variant Benign/Likely benign rs377627937 GRCh38 Chromosome X, 100407943: 100407943
28 PCDH19 NM_001105243.1(PCDH19): c.6G> A (p.Glu2=) single nucleotide variant Benign/Likely benign rs184883626 GRCh37 Chromosome X, 99663590: 99663590
29 PCDH19 NM_001105243.1(PCDH19): c.6G> A (p.Glu2=) single nucleotide variant Benign/Likely benign rs184883626 GRCh38 Chromosome X, 100408592: 100408592
30 PCDH19 NM_001184880.1(PCDH19): c.81C> T (p.Tyr27=) single nucleotide variant Benign/Likely benign rs56307810 GRCh37 Chromosome X, 99663515: 99663515
31 PCDH19 NM_001184880.1(PCDH19): c.81C> T (p.Tyr27=) single nucleotide variant Benign/Likely benign rs56307810 GRCh38 Chromosome X, 100408517: 100408517
32 PCDH19 NM_001105243.1(PCDH19): c.2797C> T (p.Arg933Cys) single nucleotide variant Benign/Likely benign rs3764758 GRCh37 Chromosome X, 99551784: 99551784
33 PCDH19 NM_001105243.1(PCDH19): c.2797C> T (p.Arg933Cys) single nucleotide variant Benign/Likely benign rs3764758 GRCh38 Chromosome X, 100296786: 100296786
34 PCDH19 NM_001105243.1(PCDH19): c.2877C> T (p.Asp959=) single nucleotide variant Benign rs16983426 GRCh37 Chromosome X, 99551704: 99551704
35 PCDH19 NM_001105243.1(PCDH19): c.2877C> T (p.Asp959=) single nucleotide variant Benign rs16983426 GRCh38 Chromosome X, 100296706: 100296706
36 PCDH19 NM_001184880.1(PCDH19): c.3280C> G (p.Leu1094Val) single nucleotide variant Benign/Likely benign rs184545774 GRCh37 Chromosome X, 99551442: 99551442
37 PCDH19 NM_001184880.1(PCDH19): c.3280C> G (p.Leu1094Val) single nucleotide variant Benign/Likely benign rs184545774 GRCh38 Chromosome X, 100296444: 100296444
38 PCDH19 NM_001105243.1(PCDH19): c.531G> A (p.Glu177=) single nucleotide variant Benign/Likely benign rs192122222 GRCh37 Chromosome X, 99663065: 99663065
39 PCDH19 NM_001105243.1(PCDH19): c.531G> A (p.Glu177=) single nucleotide variant Benign/Likely benign rs192122222 GRCh38 Chromosome X, 100408067: 100408067
40 PCDH19 NM_001184880.1(PCDH19): c.717C> T (p.Ser239=) single nucleotide variant Benign rs199628956 GRCh37 Chromosome X, 99662879: 99662879
41 PCDH19 NM_001184880.1(PCDH19): c.717C> T (p.Ser239=) single nucleotide variant Benign rs199628956 GRCh38 Chromosome X, 100407881: 100407881
42 PCDH19 NM_001184880.1(PCDH19): c.888C> T (p.Gly296=) single nucleotide variant Benign/Likely benign rs368963363 GRCh37 Chromosome X, 99662708: 99662708
43 PCDH19 NM_001184880.1(PCDH19): c.888C> T (p.Gly296=) single nucleotide variant Benign/Likely benign rs368963363 GRCh38 Chromosome X, 100407710: 100407710
44 PCDH19 NM_001105243.1(PCDH19): c.1725C> T (p.Val575=) single nucleotide variant Benign/Likely benign rs200471732 GRCh37 Chromosome X, 99661871: 99661871
45 PCDH19 NM_001105243.1(PCDH19): c.1725C> T (p.Val575=) single nucleotide variant Benign/Likely benign rs200471732 GRCh38 Chromosome X, 100406873: 100406873
46 PCDH19 NM_001105243.1(PCDH19): c.2655C> T (p.Asn885=) single nucleotide variant Conflicting interpretations of pathogenicity rs193148631 GRCh37 Chromosome X, 99596953: 99596953
47 PCDH19 NM_001105243.1(PCDH19): c.2655C> T (p.Asn885=) single nucleotide variant Conflicting interpretations of pathogenicity rs193148631 GRCh38 Chromosome X, 100341955: 100341955
48 PCDH19 NM_001105243.1(PCDH19): c.2834C> A (p.Ala945Glu) single nucleotide variant Uncertain significance rs371109150 GRCh37 Chromosome X, 99551747: 99551747
49 PCDH19 NM_001105243.1(PCDH19): c.2834C> A (p.Ala945Glu) single nucleotide variant Uncertain significance rs371109150 GRCh38 Chromosome X, 100296749: 100296749
50 PCDH19 NM_001105243.1(PCDH19): c.2601A> G (p.Gln867=) single nucleotide variant Uncertain significance rs61742914 GRCh37 Chromosome X, 99597007: 99597007

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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