MCID: EPL123
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 23

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 23

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

Name: Epileptic Encephalopathy, Early Infantile, 23 57 75 29 6 73
Eiee23 57 75
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome 59
Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 23:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615859
Orphanet 59 ORPHA411986
ICD10 via Orphanet 34 G40.4
MeSH 44 D013036
UMLS 73 C4014492

Summaries for Epileptic Encephalopathy, Early Infantile, 23

UniProtKB/Swiss-Prot : 75 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, is also known as eiee23. 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 global developmental delay and thick vermilion border

Description from OMIM: 615859

Related Diseases for Epileptic Encephalopathy, Early Infantile, 23

Diseases in the 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 23

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 thick vermilion border 32 HP:0012471
3 thick eyebrow 32 HP:0000574
4 periorbital fullness 32 HP:0000629
5 abnormality of the pinna 32 HP:0000377
6 telecanthus 32 HP:0000506
7 short philtrum 32 HP:0000322
8 broad nasal tip 32 HP:0000455
9 low anterior hairline 32 HP:0000294
10 hypoplasia of the corpus callosum 32 HP:0002079
11 hypsarrhythmia 32 HP:0002521
12 epileptic encephalopathy 32 HP:0200134
13 cortical visual impairment 32 HP:0100704
14 hypoplasia of the pons 32 HP:0012110
15 narrow forehead 32 HP:0000341

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 29 DOCK7

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 23

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

41
Occipital Lobe, Brain, Eye, Pons

Publications for Epileptic Encephalopathy, Early Infantile, 23

Variations for Epileptic Encephalopathy, Early Infantile, 23

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

6
(show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK7 NM_033407.3(DOCK7): c.2510delA (p.Asp837Alafs) deletion Pathogenic rs886037665 GRCh37 Chromosome 1, 63021582: 63021582
2 DOCK7 NM_033407.3(DOCK7): c.2510delA (p.Asp837Alafs) deletion Pathogenic rs886037665 GRCh38 Chromosome 1, 62555911: 62555911
3 DOCK7 NM_033407.3(DOCK7): c.3616C> T (p.Arg1206Ter) single nucleotide variant Pathogenic rs587777484 GRCh37 Chromosome 1, 62995020: 62995020
4 DOCK7 NM_033407.3(DOCK7): c.3616C> T (p.Arg1206Ter) single nucleotide variant Pathogenic rs587777484 GRCh38 Chromosome 1, 62529349: 62529349
5 DOCK7 NM_033407.3(DOCK7): c.983C> G (p.Ser328Ter) single nucleotide variant Pathogenic rs886037666 GRCh37 Chromosome 1, 63100496: 63100496
6 DOCK7 NM_033407.3(DOCK7): c.983C> G (p.Ser328Ter) single nucleotide variant Pathogenic rs886037666 GRCh38 Chromosome 1, 62634825: 62634825
7 DOCK7 NM_033407.3(DOCK7): c.6172G> T (p.Glu2058Ter) single nucleotide variant Pathogenic rs587777485 GRCh37 Chromosome 1, 62923324: 62923324
8 DOCK7 NM_033407.3(DOCK7): c.6172G> T (p.Glu2058Ter) single nucleotide variant Pathogenic rs587777485 GRCh38 Chromosome 1, 62457653: 62457653
9 DOCK7 NM_001271999.1(DOCK7): c.1460A> G (p.Lys487Arg) single nucleotide variant Benign rs72913293 GRCh38 Chromosome 1, 62619959: 62619959
10 DOCK7 NM_001271999.1(DOCK7): c.1460A> G (p.Lys487Arg) single nucleotide variant Benign rs72913293 GRCh37 Chromosome 1, 63085630: 63085630
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 rs35400360 GRCh37 Chromosome 1, 63021621: 63021621
14 DOCK7 NM_001271999.1(DOCK7): c.2471T> C (p.Ile824Thr) single nucleotide variant Benign rs35400360 GRCh38 Chromosome 1, 62555950: 62555950
15 DOCK7 NM_001271999.1(DOCK7): c.4817T> A (p.Phe1606Tyr) single nucleotide variant Uncertain significance rs148491210 GRCh37 Chromosome 1, 62962089: 62962089
16 DOCK7 NM_001271999.1(DOCK7): c.4817T> A (p.Phe1606Tyr) single nucleotide variant Uncertain significance rs148491210 GRCh38 Chromosome 1, 62496418: 62496418
17 DOCK7 NM_033407.3(DOCK7): c.541A> G (p.Met181Val) single nucleotide variant Benign rs61743961 GRCh38 Chromosome 1, 62648297: 62648297
18 DOCK7 NM_033407.3(DOCK7): c.541A> G (p.Met181Val) single nucleotide variant Benign rs61743961 GRCh37 Chromosome 1, 63113968: 63113968
19 DOCK7 NM_001271999.1(DOCK7): c.6012C> T (p.Pro2004=) single nucleotide variant Benign rs202231787 GRCh37 Chromosome 1, 62940939: 62940939
20 DOCK7 NM_001271999.1(DOCK7): c.6012C> T (p.Pro2004=) single nucleotide variant Benign rs202231787 GRCh38 Chromosome 1, 62475268: 62475268
21 DOCK7 NM_001271999.1(DOCK7): c.4756delA (p.Met1586Cysfs) deletion Pathogenic GRCh37 Chromosome 1, 62962150: 62962150
22 DOCK7 NM_001271999.1(DOCK7): c.4756delA (p.Met1586Cysfs) deletion Pathogenic GRCh38 Chromosome 1, 62496479: 62496479
23 DOCK7 NM_001271999.1(DOCK7): c.4641G> A (p.Arg1547=) single nucleotide variant Benign rs115353638 GRCh38 Chromosome 1, 62504726: 62504726
24 DOCK7 NM_001271999.1(DOCK7): c.4641G> A (p.Arg1547=) single nucleotide variant Benign rs115353638 GRCh37 Chromosome 1, 62970397: 62970397
25 DOCK7 NM_001271999.1(DOCK7): c.4626T> C (p.Ala1542=) single nucleotide variant Likely benign rs150922364 GRCh37 Chromosome 1, 62970412: 62970412
26 DOCK7 NM_001271999.1(DOCK7): c.4626T> C (p.Ala1542=) single nucleotide variant Likely benign rs150922364 GRCh38 Chromosome 1, 62504741: 62504741
27 DOCK7 NM_001271999.1(DOCK7): c.4470C> G (p.Ser1490=) single nucleotide variant Likely benign rs145123324 GRCh37 Chromosome 1, 62971467: 62971467
28 DOCK7 NM_001271999.1(DOCK7): c.4470C> G (p.Ser1490=) single nucleotide variant Likely benign rs145123324 GRCh38 Chromosome 1, 62505796: 62505796
29 DOCK7 NM_001271999.1(DOCK7): c.4120-7A> G single nucleotide variant Likely benign rs563656103 GRCh37 Chromosome 1, 62979284: 62979284
30 DOCK7 NM_001271999.1(DOCK7): c.4120-7A> G single nucleotide variant Likely benign rs563656103 GRCh38 Chromosome 1, 62513613: 62513613
31 DOCK7 NM_001271999.1(DOCK7): c.4056A> G (p.Ser1352=) single nucleotide variant Likely benign rs144949335 GRCh37 Chromosome 1, 62979450: 62979450
32 DOCK7 NM_001271999.1(DOCK7): c.4056A> G (p.Ser1352=) single nucleotide variant Likely benign rs144949335 GRCh38 Chromosome 1, 62513779: 62513779
33 DOCK7 NM_001271999.1(DOCK7): c.3781+5C> G single nucleotide variant Uncertain significance rs199682893 GRCh38 Chromosome 1, 62529272: 62529272
34 DOCK7 NM_001271999.1(DOCK7): c.3781+5C> G single nucleotide variant Uncertain significance rs199682893 GRCh37 Chromosome 1, 62994943: 62994943
35 DOCK7 NM_001271999.1(DOCK7): c.3717C> G (p.Ala1239=) single nucleotide variant Likely benign rs375372678 GRCh37 Chromosome 1, 62995012: 62995012
36 DOCK7 NM_001271999.1(DOCK7): c.3717C> G (p.Ala1239=) single nucleotide variant Likely benign rs375372678 GRCh38 Chromosome 1, 62529341: 62529341
37 DOCK7 NM_001271999.1(DOCK7): c.3522T> C (p.Phe1174=) single nucleotide variant Likely benign rs753000635 GRCh37 Chromosome 1, 63001253: 63001253
38 DOCK7 NM_001271999.1(DOCK7): c.3522T> C (p.Phe1174=) single nucleotide variant Likely benign rs753000635 GRCh38 Chromosome 1, 62535582: 62535582
39 DOCK7 NM_001271999.1(DOCK7): c.1389A> C (p.Arg463=) single nucleotide variant Benign rs35627175 GRCh37 Chromosome 1, 63090966: 63090966
40 DOCK7 NM_001271999.1(DOCK7): c.1389A> C (p.Arg463=) single nucleotide variant Benign rs35627175 GRCh38 Chromosome 1, 62625295: 62625295
41 DOCK7 NM_001271999.1(DOCK7): c.1111A> G (p.Thr371Ala) single nucleotide variant Uncertain significance rs746086295 GRCh37 Chromosome 1, 63099174: 63099174
42 DOCK7 NM_001271999.1(DOCK7): c.1111A> G (p.Thr371Ala) single nucleotide variant Uncertain significance rs746086295 GRCh38 Chromosome 1, 62633503: 62633503
43 DOCK7 NM_001271999.1(DOCK7): c.988A> G (p.Ile330Val) single nucleotide variant Uncertain significance rs143611920 GRCh37 Chromosome 1, 63100491: 63100491
44 DOCK7 NM_001271999.1(DOCK7): c.988A> G (p.Ile330Val) single nucleotide variant Uncertain significance rs143611920 GRCh38 Chromosome 1, 62634820: 62634820
45 DOCK7 NM_001271999.1(DOCK7): c.842T> A (p.Ile281Asn) single nucleotide variant Uncertain significance rs202034067 GRCh37 Chromosome 1, 63102251: 63102251
46 DOCK7 NM_001271999.1(DOCK7): c.842T> A (p.Ile281Asn) single nucleotide variant Uncertain significance rs202034067 GRCh38 Chromosome 1, 62636580: 62636580
47 DOCK7 NM_001271999.1(DOCK7): c.96A> G (p.Gln32=) single nucleotide variant Uncertain significance rs754808562 GRCh37 Chromosome 1, 63128744: 63128744
48 DOCK7 NM_001271999.1(DOCK7): c.760C> G (p.Pro254Ala) single nucleotide variant Uncertain significance rs199803893 GRCh37 Chromosome 1, 63113420: 63113420
49 DOCK7 NM_001271999.1(DOCK7): c.760C> G (p.Pro254Ala) single nucleotide variant Uncertain significance rs199803893 GRCh38 Chromosome 1, 62647749: 62647749
50 DOCK7 NM_001271999.1(DOCK7): c.125A> G (p.Asn42Ser) single nucleotide variant Likely benign rs143701798 GRCh37 Chromosome 1, 63128715: 63128715

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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