EIEE23
MCID: EPL123
MIFTS: 29

Epileptic Encephalopathy, Early Infantile, 23 (EIEE23)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 23

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 23:

Name: Epileptic Encephalopathy, Early Infantile, 23 58 76 30 6 74
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome 12 60
Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome 12 60
Early Infantile Epileptic Encephalopathy 23 12 15
Eiee23 58 76

Characteristics:

Orphanet epidemiological data:

60
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three girls from 2 unrelated families have been reported (last curated june 2014)


HPO:

33
epileptic encephalopathy, early infantile, 23:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 23

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 23: A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 23, also known as early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome, is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Epileptic Encephalopathy, Early Infantile, 23 is DOCK7 (Dedicator Of Cytokinesis 7). Affiliated tissues include occipital lobe, brain and eye, and related phenotypes are seizures and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.

Description from OMIM: 615859

Related Diseases for Epileptic Encephalopathy, Early Infantile, 23

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, 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 10.3
2 encephalopathy 10.3

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 23

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 23:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 thick vermilion border 33 HP:0012471
4 thick eyebrow 33 HP:0000574
5 periorbital fullness 33 HP:0000629
6 abnormality of the pinna 33 HP:0000377
7 telecanthus 33 HP:0000506
8 short philtrum 33 HP:0000322
9 broad nasal tip 33 HP:0000455
10 low anterior hairline 33 HP:0000294
11 hypoplasia of the corpus callosum 33 HP:0002079
12 hypsarrhythmia 33 HP:0002521
13 epileptic encephalopathy 33 HP:0200134
14 hypoplasia of the pons 33 HP:0012110
15 narrow forehead 33 HP:0000341
16 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
anteverted nares
broad nasal tip
large nasal root

Head And Neck Eyes:
telecanthus
cortical visual impairment
thick eyebrows
cortical blindness

Neurologic Central Nervous System:
hypsarrhythmia
epileptic encephalopathy
delayed psychomotor development
thin corpus callosum
seizures, intractable
more
Head And Neck Ears:
abnormally shaped ears

Head And Neck Face:
periorbital fullness
short philtrum
bitemporal narrowing

Skin Nails Hair Hair:
low anterior hairline

Head And Neck Mouth:
full lips

Clinical features from OMIM:

615859

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 23

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 23

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 23

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 23:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 23 30 DOCK7

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 23

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 23:

42
Occipital Lobe, Brain, Eye, Pons

Publications for Epileptic Encephalopathy, Early Infantile, 23

Articles related to Epileptic Encephalopathy, Early Infantile, 23:

# Title Authors Year
1
Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23. ( 30807315 )
2019
2
Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23. ( 30807358 )
2019

Variations for Epileptic Encephalopathy, Early Infantile, 23

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 23:

6 (show top 50) (show all 276)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK7 NM_001271999.1(DOCK7): c.1460A> G (p.Lys487Arg) single nucleotide variant Benign rs72913293 GRCh38 Chromosome 1, 62619959: 62619959
2 DOCK7 NM_001271999.1(DOCK7): c.1460A> G (p.Lys487Arg) single nucleotide variant Benign rs72913293 GRCh37 Chromosome 1, 63085630: 63085630
3 DOCK7 NM_033407.3(DOCK7): c.2510delA (p.Asp837Alafs) deletion Pathogenic rs886037665 GRCh37 Chromosome 1, 63021582: 63021582
4 DOCK7 NM_033407.3(DOCK7): c.2510delA (p.Asp837Alafs) deletion Pathogenic rs886037665 GRCh38 Chromosome 1, 62555911: 62555911
5 DOCK7 NM_033407.3(DOCK7): c.3616C> T (p.Arg1206Ter) single nucleotide variant Pathogenic rs587777484 GRCh37 Chromosome 1, 62995020: 62995020
6 DOCK7 NM_033407.3(DOCK7): c.3616C> T (p.Arg1206Ter) single nucleotide variant Pathogenic rs587777484 GRCh38 Chromosome 1, 62529349: 62529349
7 DOCK7 NM_033407.3(DOCK7): c.983C> G (p.Ser328Ter) single nucleotide variant Pathogenic rs886037666 GRCh37 Chromosome 1, 63100496: 63100496
8 DOCK7 NM_033407.3(DOCK7): c.983C> G (p.Ser328Ter) single nucleotide variant Pathogenic rs886037666 GRCh38 Chromosome 1, 62634825: 62634825
9 DOCK7 NM_033407.3(DOCK7): c.6172G> T (p.Glu2058Ter) single nucleotide variant Pathogenic rs587777485 GRCh37 Chromosome 1, 62923324: 62923324
10 DOCK7 NM_033407.3(DOCK7): c.6172G> T (p.Glu2058Ter) single nucleotide variant Pathogenic rs587777485 GRCh38 Chromosome 1, 62457653: 62457653
11 DOCK7 NM_001271999.1(DOCK7): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057520100 GRCh37 Chromosome 1, 63091070: 63091070
12 DOCK7 NM_001271999.1(DOCK7): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057520100 GRCh38 Chromosome 1, 62625399: 62625399
13 DOCK7 NM_001271999.1(DOCK7): c.2471T> C (p.Ile824Thr) single nucleotide variant Benign/Likely benign rs35400360 GRCh37 Chromosome 1, 63021621: 63021621
14 DOCK7 NM_001271999.1(DOCK7): c.2471T> C (p.Ile824Thr) single nucleotide variant Benign/Likely benign rs35400360 GRCh38 Chromosome 1, 62555950: 62555950
15 DOCK7 NM_001271999.1(DOCK7): c.2908A> G (p.Ser970Gly) single nucleotide variant Uncertain significance rs199681303 GRCh38 Chromosome 1, 62543697: 62543697
16 DOCK7 NM_001271999.1(DOCK7): c.2908A> G (p.Ser970Gly) single nucleotide variant Uncertain significance rs199681303 GRCh37 Chromosome 1, 63009368: 63009368
17 DOCK7 NM_001271999.1(DOCK7): c.4817T> A (p.Phe1606Tyr) single nucleotide variant Uncertain significance rs148491210 GRCh37 Chromosome 1, 62962089: 62962089
18 DOCK7 NM_001271999.1(DOCK7): c.4817T> A (p.Phe1606Tyr) single nucleotide variant Uncertain significance rs148491210 GRCh38 Chromosome 1, 62496418: 62496418
19 DOCK7 NM_001271999.1(DOCK7): c.2612G> A (p.Gly871Glu) single nucleotide variant Uncertain significance rs142531051 GRCh37 Chromosome 1, 63018557: 63018557
20 DOCK7 NM_001271999.1(DOCK7): c.2612G> A (p.Gly871Glu) single nucleotide variant Uncertain significance rs142531051 GRCh38 Chromosome 1, 62552886: 62552886
21 DOCK7 NM_033407.3(DOCK7): c.541A> G (p.Met181Val) single nucleotide variant Benign rs61743961 GRCh37 Chromosome 1, 63113968: 63113968
22 DOCK7 NM_033407.3(DOCK7): c.541A> G (p.Met181Val) single nucleotide variant Benign rs61743961 GRCh38 Chromosome 1, 62648297: 62648297
23 DOCK7 NM_001271999.1(DOCK7): c.6012C> T (p.Pro2004=) single nucleotide variant Benign rs202231787 GRCh37 Chromosome 1, 62940939: 62940939
24 DOCK7 NM_001271999.1(DOCK7): c.6012C> T (p.Pro2004=) single nucleotide variant Benign rs202231787 GRCh38 Chromosome 1, 62475268: 62475268
25 DOCK7 NM_001271999.1(DOCK7): c.4756delA (p.Met1586Cysfs) deletion Pathogenic rs1553156203 GRCh37 Chromosome 1, 62962150: 62962150
26 DOCK7 NM_001271999.1(DOCK7): c.4756delA (p.Met1586Cysfs) deletion Pathogenic rs1553156203 GRCh38 Chromosome 1, 62496479: 62496479
27 DOCK7 NM_001271999.1(DOCK7): c.4641G> A (p.Arg1547=) single nucleotide variant Benign rs115353638 GRCh38 Chromosome 1, 62504726: 62504726
28 DOCK7 NM_001271999.1(DOCK7): c.4641G> A (p.Arg1547=) single nucleotide variant Benign rs115353638 GRCh37 Chromosome 1, 62970397: 62970397
29 DOCK7 NM_001271999.1(DOCK7): c.4626T> C (p.Ala1542=) single nucleotide variant Likely benign rs150922364 GRCh37 Chromosome 1, 62970412: 62970412
30 DOCK7 NM_001271999.1(DOCK7): c.4626T> C (p.Ala1542=) single nucleotide variant Likely benign rs150922364 GRCh38 Chromosome 1, 62504741: 62504741
31 DOCK7 NM_001271999.1(DOCK7): c.4470C> G (p.Ser1490=) single nucleotide variant Likely benign rs145123324 GRCh37 Chromosome 1, 62971467: 62971467
32 DOCK7 NM_001271999.1(DOCK7): c.4470C> G (p.Ser1490=) single nucleotide variant Likely benign rs145123324 GRCh38 Chromosome 1, 62505796: 62505796
33 DOCK7 NM_001271999.1(DOCK7): c.4120-7A> G single nucleotide variant Likely benign rs563656103 GRCh37 Chromosome 1, 62979284: 62979284
34 DOCK7 NM_001271999.1(DOCK7): c.4120-7A> G single nucleotide variant Likely benign rs563656103 GRCh38 Chromosome 1, 62513613: 62513613
35 DOCK7 NM_001271999.1(DOCK7): c.4056A> G (p.Ser1352=) single nucleotide variant Likely benign rs144949335 GRCh37 Chromosome 1, 62979450: 62979450
36 DOCK7 NM_001271999.1(DOCK7): c.4056A> G (p.Ser1352=) single nucleotide variant Likely benign rs144949335 GRCh38 Chromosome 1, 62513779: 62513779
37 DOCK7 NM_001271999.1(DOCK7): c.3781+5C> G single nucleotide variant Uncertain significance rs199682893 GRCh37 Chromosome 1, 62994943: 62994943
38 DOCK7 NM_001271999.1(DOCK7): c.3781+5C> G single nucleotide variant Uncertain significance rs199682893 GRCh38 Chromosome 1, 62529272: 62529272
39 DOCK7 NM_001271999.1(DOCK7): c.3717C> G (p.Ala1239=) single nucleotide variant Likely benign rs375372678 GRCh37 Chromosome 1, 62995012: 62995012
40 DOCK7 NM_001271999.1(DOCK7): c.3717C> G (p.Ala1239=) single nucleotide variant Likely benign rs375372678 GRCh38 Chromosome 1, 62529341: 62529341
41 DOCK7 NM_001271999.1(DOCK7): c.3522T> C (p.Phe1174=) single nucleotide variant Likely benign rs753000635 GRCh37 Chromosome 1, 63001253: 63001253
42 DOCK7 NM_001271999.1(DOCK7): c.3522T> C (p.Phe1174=) single nucleotide variant Likely benign rs753000635 GRCh38 Chromosome 1, 62535582: 62535582
43 DOCK7 NM_001271999.1(DOCK7): c.1389A> C (p.Arg463=) single nucleotide variant Benign rs35627175 GRCh37 Chromosome 1, 63090966: 63090966
44 DOCK7 NM_001271999.1(DOCK7): c.1389A> C (p.Arg463=) single nucleotide variant Benign rs35627175 GRCh38 Chromosome 1, 62625295: 62625295
45 DOCK7 NM_001271999.1(DOCK7): c.1111A> G (p.Thr371Ala) single nucleotide variant Uncertain significance rs746086295 GRCh37 Chromosome 1, 63099174: 63099174
46 DOCK7 NM_001271999.1(DOCK7): c.1111A> G (p.Thr371Ala) single nucleotide variant Uncertain significance rs746086295 GRCh38 Chromosome 1, 62633503: 62633503
47 DOCK7 NM_001271999.1(DOCK7): c.988A> G (p.Ile330Val) single nucleotide variant Uncertain significance rs143611920 GRCh37 Chromosome 1, 63100491: 63100491
48 DOCK7 NM_001271999.1(DOCK7): c.988A> G (p.Ile330Val) single nucleotide variant Uncertain significance rs143611920 GRCh38 Chromosome 1, 62634820: 62634820
49 DOCK7 NM_001271999.1(DOCK7): c.842T> A (p.Ile281Asn) single nucleotide variant Uncertain significance rs202034067 GRCh37 Chromosome 1, 63102251: 63102251
50 DOCK7 NM_001271999.1(DOCK7): c.842T> A (p.Ile281Asn) single nucleotide variant Uncertain significance rs202034067 GRCh38 Chromosome 1, 62636580: 62636580

Expression for Epileptic Encephalopathy, Early Infantile, 23

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 23.

Pathways for Epileptic Encephalopathy, Early Infantile, 23

GO Terms for Epileptic Encephalopathy, Early Infantile, 23

Sources for Epileptic Encephalopathy, Early Infantile, 23

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