DEE9
MCID: DVL027
MIFTS: 45

Developmental and Epileptic Encephalopathy 9 (DEE9)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 9

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 9:

Name: Developmental and Epileptic Encephalopathy 9 57 12
Early Infantile Epileptic Encephalopathy 9 12 29 6 15
Efmr 57 12 58 73
Epileptic Encephalopathy, Early Infantile, 9 57 73 13
Eiee9 57 12 73
Juberg-Hellman Syndrome 57 58
Dee9 57 12
Epilepsy, Female-Restricted, with Mental Retardation; Efmr 57
Early Infantile Female-Limited Epilecptic Encephalopathy 12
Female Restricted Epilepsy with Intellectual Disability 58
Epilepsy, Female-Restricted, with Mental Retardation 57
Epileptic Encephalopathy, Early Infantile, 9; Eiee9 57
Female Restricted Epilepsy with Mental Retardation 12
Epilepsy Female-Restricted with Mental Retardation 73
Encephalopathy, Epileptic, Early Infantile, Type 9 39
Convulsive Disorder and Mental Retardation 73
Juberg Hellman Syndrome 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 9:
Inheritance x-linked inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Developmental and Epileptic Encephalopathy 9

OMIM® : 57 Developmental and epileptic encephalopathy-9 (DEE9) 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 developmental and epileptic encephalopathy, see 308350. (300088) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 9, also known as early infantile epileptic encephalopathy 9, is related to encephalopathy and epilepsy, and has symptoms including myoclonic seizures, absence seizures and convulsive seizures. An important gene associated with Developmental and Epileptic Encephalopathy 9 is PCDH19 (Protocadherin 19), and among its related pathways/superpathways is Interaction between L1 and Ankyrins. Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has material basis in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 9

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 29.2 STXBP1 SCN1A PCDH19 KCNT1 KCNQ2 CDKL5
2 epilepsy 29.0 STXBP1 SRPX2 SCN1A PCDH19 KCNT1 KCNQ2
3 early infantile epileptic encephalopathy 27.2 TSPAN6 TNMD SYTL4 STXBP1 SRPX2 SCN1A
4 pcdh19-related female-limited epilepsy 11.4
5 febrile infection-related epilepsy syndrome 10.3 SCN1A PCDH19
6 aicardi syndrome 10.2 PCDH19 CDKL5
7 epilepsy with generalized tonic-clonic seizures 10.2 SCN1A CDKL5
8 stxbp1 encephalopathy 10.2 STXBP1 CDKL5
9 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.2 SCN1A CDKL5
10 van maldergem syndrome 10.1 PCDH11X CDH17
11 early onset absence epilepsy 10.1 SCN1A KCNQ2
12 van maldergem syndrome 1 10.1 PCDH11X CDH17
13 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1A KCNQ2
14 x-linked intellectual disability-epilepsy syndrome 10.1
15 specific developmental disorder 10.1 SCN1A PCDH19 CDKL5
16 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.1 PCDH17 KCNQ2
17 chromosome 16p11.2 deletion syndrome 10.1 PCDH19 KCNT1
18 developmental and epileptic encephalopathy 14 10.1 SCN1A KCNT1 CDKL5
19 developmental and epileptic encephalopathy 7 10.1 KCNT1 KCNQ2
20 adolescence-adult electroclinical syndrome 10.1 SCN1A PCDH19 KCNQ2
21 status epilepticus 10.0 SCN1A PCDH19 KCNQ2
22 developmental and epileptic encephalopathy 4 10.0 STXBP1 CDKL5
23 focal epilepsy 10.0 SCN1A KCNT1 CDKL5
24 sturge-weber syndrome 10.0 SCN1A CDKL5
25 craniofacial-deafness-hand syndrome 10.0 PCDH11X CDH17
26 partial motor epilepsy 10.0 SCN1A KCNT1 KCNQ2
27 malignant migrating partial seizures of infancy 9.9 SCN1A KCNT1
28 photosensitive epilepsy 9.9 STXBP1 SCN1A PCDH19 KCNQ2
29 developmental and epileptic encephalopathy 9.8 STXBP1 SCN1A KCNQ2 CDKL5
30 seizure disorder 9.7 STXBP1 SCN1A PCDH19 KCNQ2 CDKL5
31 benign familial neonatal epilepsy 9.6 STXBP1 SCN1A PCDH19 PCDH10 KCNQ2 CDKL5
32 autosomal dominant nocturnal frontal lobe epilepsy 9.5 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
33 benign neonatal seizures 9.5 STXBP1 SCN1A PCDH19 KCNT1 KCNQ2 CDKL5
34 landau-kleffner syndrome 9.4 STXBP1 SRPX2 SCN1A PCDH19 PCDH10 KCNT1
35 infancy electroclinical syndrome 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
36 electroclinical syndrome 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
37 neonatal period electroclinical syndrome 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
38 benign familial infantile epilepsy 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
39 lennox-gastaut syndrome 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
40 early myoclonic encephalopathy 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
41 epilepsy, myoclonic juvenile 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
42 generalized epilepsy with febrile seizures plus 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
43 dravet syndrome 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
44 epilepsy, idiopathic generalized 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
45 childhood absence epilepsy 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
46 west syndrome 9.4 STXBP1 SCN1A PCDH19 PCDH10 KCNT1 KCNQ2
47 childhood electroclinical syndrome 9.3 STXBP1 SRPX2 SCN1A PCDH19 PCDH10 KCNT1
48 benign epilepsy with centrotemporal spikes 9.3 STXBP1 SRPX2 SCN1A PCDH19 PCDH10 KCNT1
49 disease of mental health 8.9 STXBP1 SRPX2 SCN1A PCDH19 PCDH11X PCDH10

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 9:



Diseases related to Developmental and Epileptic Encephalopathy 9

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 9

Human phenotypes related to Developmental and Epileptic Encephalopathy 9:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Occasional (29-5%) HP:0001263
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
5 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
6 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
7 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
8 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
9 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
10 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
11 generalized tonic seizure 31 frequent (33%) HP:0010818
12 generalized clonic seizure 31 frequent (33%) HP:0011169
13 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
14 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
15 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
16 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
17 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
18 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
19 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
20 atonic seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
21 atypical absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007270
22 focal-onset seizure 31 occasional (7.5%) HP:0007359
23 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
24 complex febrile seizure 31 occasional (7.5%) HP:0011172
25 psychosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000709
26 abnormal eating behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100738
27 developmental regression 31 HP:0002376
28 behavioral abnormality 58 Frequent (79-30%)
29 generalized myoclonic seizures 58 Occasional (29-5%)
30 generalized tonic-clonic seizures 58 Frequent (79-30%)
31 absence seizure 58 Occasional (29-5%)
32 febrile seizures 58 Very frequent (99-80%)
33 generalized tonic seizures 58 Frequent (79-30%)
34 complex febrile seizures 58 Occasional (29-5%)
35 focal seizures, afebril 58 Occasional (29-5%)
36 generalized clonic seizures 58 Frequent (79-30%)
37 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 9:


myoclonic seizures, absence seizures, convulsive seizures

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CDKL5 KCNQ2 KCNT1 PCDH10 PCDH17 PCDH19

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 9

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 9

Genetic Tests for Developmental and Epileptic Encephalopathy 9

Genetic tests related to Developmental and Epileptic Encephalopathy 9:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 9 29 PCDH19

Anatomical Context for Developmental and Epileptic Encephalopathy 9

Publications for Developmental and Epileptic Encephalopathy 9

Articles related to Developmental and Epileptic Encephalopathy 9:

(show all 28)
# Title Authors PMID Year
1
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 61 6 57
19752159 2010
2
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 6 57 61
18469813 2008
3
Epilepsy and mental retardation limited to females: an under-recognized disorder. 6 57 61
18234694 2008
4
A new familial form of convulsive disorder and mental retardation limited to females. 57 6
5116697 1971
5
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 61 57
21519002 2011
6
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 61 57
20830798 2010
7
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. 61 57
9288105 1997
8
Protocadherin 19 mutations in girls with infantile-onset epilepsy. 57
20713952 2010
9
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 57
19214208 2009
10
Save the males! 57
9288083 1997
11
A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. 57
2126489 1990
12
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. 57
6770678 1980
13
A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome. 61
32314541 2020
14
Autism-like behaviors in male mice with a Pcdh19 deletion. 61
31747920 2019
15
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. 61
29892053 2019
16
Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females. 61
30572518 2018
17
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. 61
29866057 2018
18
[PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review]. 61
28690234 2017
19
Tetraspanin 6: A novel regulator of hippocampal synaptic transmission and long term plasticity. 61
28207852 2017
20
Clinical and genetic analysis of two Chinese infants with Mabry syndrome. 61
27177984 2016
21
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. 61
26820223 2016
22
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. 61
26123493 2015
23
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. 61
25204757 2015
24
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. 61
23334464 2013
25
Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. 61
22091964 2012
26
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. 61
22949144 2012
27
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR). 61
22932693 2012
28
Intraoperative evoked facial muscle responses and recovery process of the facial nerve in acoustic neuroma surgery. 61
10715725 1999

Variations for Developmental and Epileptic Encephalopathy 9

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 9:

6 (show top 50) (show all 362)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCDH19 NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) Deletion Pathogenic 408902 rs1060502175 X:99657797-99657797 X:100402799-100402799
2 PCDH19 NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) Indel Pathogenic 446433 rs1555985820 X:99663457-99663458 X:100408459-100408460
3 PCDH19 NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) Deletion Pathogenic 206351 rs796052828 X:99662534-99662537 X:100407536-100407539
4 PCDH19 NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) Deletion Pathogenic 465297 rs1555985163 X:99662148-99662154 X:100407150-100407156
5 PCDH19 NC_000023.10:g.(?_99551255)_(99926004_?)del Deletion Pathogenic 465294 X:99551255-99926004
6 PCDH19 NM_001184880.2(PCDH19):c.619del (p.Arg207fs) Deletion Pathogenic 465307 rs1555985543 X:99662977-99662977 X:100407979-100407979
7 PCDH19 NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) Deletion Pathogenic 465300 rs1555984453 X:99657685-99657685 X:100402687-100402687
8 PCDH19 NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) SNV Pathogenic 533844 rs1555985105 X:99662041-99662041 X:100407043-100407043
9 PCDH19 NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) Duplication Pathogenic 533849 rs1131691646 X:99662074-99662075 X:100407076-100407077
10 PCDH19 NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) SNV Pathogenic 206364 rs796052839 X:99662577-99662577 X:100407579-100407579
11 PCDH19 NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) SNV Pathogenic 206321 rs587784299 X:99662901-99662901 X:100407903-100407903
12 PCDH19 NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) SNV Pathogenic 533856 rs769967221 X:99662413-99662413 X:100407415-100407415
13 PCDH19 NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) Duplication Pathogenic 504290 rs1555985416 X:99662716-99662717 X:100407718-100407719
14 PCDH19 NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) Deletion Pathogenic 576806 rs1569315042 X:99662474-99662475 X:100407476-100407477
15 PCDH19 NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) Indel Pathogenic 548139 rs1555985639 X:99663106-99663107 X:100408108-100408109
16 PCDH19 NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) SNV Pathogenic 566069 rs1569315231 X:99662678-99662678 X:100407680-100407680
17 PCDH19 NM_001184880.2(PCDH19):c.971del (p.Asn324fs) Deletion Pathogenic 620031 X:99662625-99662625 X:100407627-100407627
18 PCDH19 NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) SNV Pathogenic 449356 rs201989363 X:99661896-99661896 X:100406898-100406898
19 PCDH19 NM_001184880.1(PCDH19):c.1657_2616+3340del Deletion Pathogenic 565718 X:99654184-99661941 X:100399184-100406941
20 PCDH19 NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) SNV Pathogenic 211839 rs797045873 X:99663106-99663106 X:100408108-100408108
21 PCDH19 NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) Deletion Pathogenic 206360 rs796052836 X:99657739-99657739 X:100402741-100402741
22 PCDH19 NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) SNV Pathogenic 11022 rs267606933 X:99661925-99661925 X:100406927-100406927
23 PCDH19 PCDH19, 5-BP DUP, NT1036 Duplication Pathogenic 11021
24 PCDH19 NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) SNV Pathogenic 11020 rs132630326 X:99663454-99663454 X:100408456-100408456
25 PCDH19 NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) Duplication Pathogenic 11019 rs1569314152 X:99661565-99661566 X:100406567-100406568
26 PCDH19 NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) SNV Pathogenic 11018 rs132630325 X:99661584-99661584 X:100406586-100406586
27 PCDH19 NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) SNV Pathogenic 11017 rs132630324 X:99663343-99663343 X:100408345-100408345
28 PCDH19 NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) SNV Pathogenic 11016 rs132630323 X:99662274-99662274 X:100407276-100407276
29 PCDH19 NM_001184880.2(PCDH19):c.132del (p.Asp45fs) Deletion Pathogenic 639643 rs1602638463 X:99663464-99663464 X:100408466-100408466
30 PCDH19 NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) Deletion Pathogenic 589939 rs758946412 X:99662505-99662505 X:100407507-100407507
31 PCDH19 NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) Deletion Pathogenic 561073 rs1569314475 X:99661920-99661920 X:100406922-100406922
32 PCDH19 NM_001184880.2(PCDH19):c.670del (p.Ser225fs) Deletion Pathogenic 647772 rs1602637452 X:99662926-99662926 X:100407928-100407928
33 PCDH19 NM_001184880.2(PCDH19):c.2676-6A>G SNV Pathogenic 648238 rs1602595136 X:99597079-99597079 X:100342081-100342081
34 PCDH19 NM_001184880.2(PCDH19):c.2617-1G>A SNV Pathogenic 648240 rs1602600561 X:99605703-99605703 X:100350705-100350705
35 PCDH19 NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) SNV Pathogenic 649112 rs1602637774 X:99663061-99663061 X:100408063-100408063
36 PCDH19 NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) SNV Pathogenic 651548 rs587784295 X:99662048-99662048 X:100407050-100407050
37 PCDH19 NC_000023.11:g.(?_100296257)_(100408617_?)del Deletion Pathogenic 654099 X:99551255-99663615 X:100296257-100408617
38 PCDH19 NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) SNV Pathogenic 658664 rs749662385 X:99661841-99661841 X:100406843-100406843
39 PCDH19 NM_001184880.2(PCDH19):c.994del (p.Val332fs) Deletion Pathogenic 589901 rs1569315156 X:99662602-99662602 X:100407604-100407604
40 PCDH19 NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) Duplication Pathogenic 804049 rs1602595101 X:99597051-99597052 X:100342053-100342054
41 PCDH19 NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) Deletion Pathogenic 804050 rs34651888 X:99605695-99605695 X:100350697-100350697
42 PCDH19 NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) Duplication Pathogenic 804051 rs1060502175 X:99657796-99657797 X:100402798-100402799
43 PCDH19 NM_001184880.2(PCDH19):c.1952_1953CT[3] (p.Ser653fs) Microsatellite Pathogenic 800523 rs796052835 X:99661637-99661638 X:100406639-100406640
44 PCDH19 NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) Deletion Pathogenic 804054 rs1602635781 X:99661973-99661973 X:100406975-100406975
45 PCDH19 NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) Deletion Pathogenic 804056 rs1602636591 X:99662424-99662424 X:100407426-100407426
46 PCDH19 NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) SNV Pathogenic 804058 rs1602636952 X:99662659-99662659 X:100407661-100407661
47 PCDH19 NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) SNV Pathogenic 589938 rs796052837 X:99663098-99663098 X:100408100-100408100
48 PCDH19 NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) Deletion Pathogenic 804060 rs1602638456 X:99663461-99663462 X:100408463-100408464
49 PCDH19 NM_001184880.2(PCDH19):c.745del (p.Glu249fs) Deletion Pathogenic 813748 X:99662851-99662851 X:100407853-100407853
50 PCDH19 NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter) SNV Pathogenic 206329 X:99662356-99662356 X:100407358-100407358

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 9:

73 (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 rs156931605
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 rs155598547
28 PCDH19 p.Pro236Ser VAR_067479
29 PCDH19 p.Ala262Asp VAR_067480 rs155598544
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 rs122164377
35 PCDH19 p.Pro236Leu VAR_078724 rs106050217

Expression for Developmental and Epileptic Encephalopathy 9

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 9.

Pathways for Developmental and Epileptic Encephalopathy 9

Pathways related to Developmental and Epileptic Encephalopathy 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.1 SCN1A KCNQ2

GO Terms for Developmental and Epileptic Encephalopathy 9

Cellular components related to Developmental and Epileptic Encephalopathy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.22 TSPAN6 TNMD SYTL4 STXBP1 SCN1A PCDH8
2 integral component of membrane GO:0016021 10.11 TSPAN6 TNMD SCN1A PCDH8 PCDH19 PCDH17
3 plasma membrane GO:0005886 10.06 SYTL4 STXBP1 SCN1A PCDH8 PCDH19 PCDH17
4 glutamatergic synapse GO:0098978 9.56 STXBP1 PCDH8 PCDH17 CDKL5
5 integral component of plasma membrane GO:0005887 9.17 TSPAN6 PCDH8 PCDH19 PCDH17 PCDH11X PCDH10
6 axon initial segment GO:0043194 9.16 SCN1A KCNQ2
7 node of Ranvier GO:0033268 8.96 SCN1A KCNQ2

Biological processes related to Developmental and Epileptic Encephalopathy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.5 SRPX2 PCDH8 PCDH19 PCDH17 PCDH11X PCDH10
2 positive regulation of exocytosis GO:0045921 9.26 SYTL4 STXBP1
3 neuromuscular process controlling posture GO:0050884 9.16 TCF15 SCN1A
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.1 PCDH8 PCDH19 PCDH17 PCDH11X PCDH10 CDH17

Molecular functions related to Developmental and Epileptic Encephalopathy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.1 PCDH8 PCDH19 PCDH17 PCDH11X PCDH10 CDH17

Sources for Developmental and Epileptic Encephalopathy 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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