EIEE5
MCID: EPL028
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 5 (EIEE5)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 5

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 5:

Name: Epileptic Encephalopathy, Early Infantile, 5 58 76 13 74
Early Infantile Epileptic Encephalopathy 5 12 30 6
Eiee5 58 76
Encephalopathy, Epileptic, Early Infantile, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity


HPO:

33
epileptic encephalopathy, early infantile, 5:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 5

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 5: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 5, is also known as early infantile epileptic encephalopathy 5. An important gene associated with Epileptic Encephalopathy, Early Infantile, 5 is SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1). Affiliated tissues include brain, and related phenotypes are progressive microcephaly and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

Description from OMIM: 613477

Related Diseases for Epileptic Encephalopathy, Early Infantile, 5

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 5

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 5:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 33 frequent (33%) HP:0000253
2 seizures 33 HP:0001250
3 hyperreflexia 33 HP:0001347
4 spastic tetraplegia 33 HP:0002510
5 intellectual disability, severe 33 HP:0010864
6 intellectual disability, profound 33 HP:0002187
7 cerebellar atrophy 33 HP:0001272
8 generalized hypotonia 33 HP:0001290
9 hypoplasia of the corpus callosum 33 HP:0002079
10 atrophy/degeneration affecting the brainstem 33 HP:0007366
11 cerebral atrophy 33 HP:0002059
12 hypsarrhythmia 33 HP:0002521
13 epileptic encephalopathy 33 HP:0200134
14 cns hypomyelination 33 HP:0003429

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
cerebral atrophy
hypsarrhythmia
hypotonia
more
Head And Neck Eyes:
no visual attention
coloboma-like optic discs (1 patient)

Head And Neck Head:
microcephaly, progressive (in some patients)

Clinical features from OMIM:

613477

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 5

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 5

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 5

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 5:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 5 30 SPTAN1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 5

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 5:

42
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 5

Variations for Epileptic Encephalopathy, Early Infantile, 5

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 5:

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTAN1 NM_001130438.2(SPTAN1): c.1389C> T (p.Tyr463=) single nucleotide variant Uncertain significance rs587784431 GRCh37 Chromosome 9, 131343266: 131343266
2 SPTAN1 NM_001130438.2(SPTAN1): c.1389C> T (p.Tyr463=) single nucleotide variant Uncertain significance rs587784431 GRCh38 Chromosome 9, 128580987: 128580987
3 SPTAN1 NM_001130438.2(SPTAN1): c.1603C> A (p.Gln535Lys) single nucleotide variant Uncertain significance rs79650677 GRCh37 Chromosome 9, 131344788: 131344788
4 SPTAN1 NM_001130438.2(SPTAN1): c.1603C> A (p.Gln535Lys) single nucleotide variant Uncertain significance rs79650677 GRCh38 Chromosome 9, 128582509: 128582509
5 SPTAN1 NM_001130438.2(SPTAN1): c.1677C> G (p.His559Gln) single nucleotide variant Uncertain significance rs587784432 GRCh37 Chromosome 9, 131344999: 131344999
6 SPTAN1 NM_001130438.2(SPTAN1): c.1677C> G (p.His559Gln) single nucleotide variant Uncertain significance rs587784432 GRCh38 Chromosome 9, 128582720: 128582720
7 SPTAN1 NM_001130438.2(SPTAN1): c.1697G> A (p.Arg566Gln) single nucleotide variant Uncertain significance rs370304886 GRCh37 Chromosome 9, 131345019: 131345019
8 SPTAN1 NM_001130438.2(SPTAN1): c.1697G> A (p.Arg566Gln) single nucleotide variant Uncertain significance rs370304886 GRCh38 Chromosome 9, 128582740: 128582740
9 SPTAN1 NM_001130438.2(SPTAN1): c.2064G> A (p.Glu688=) single nucleotide variant Uncertain significance rs587784433 GRCh37 Chromosome 9, 131346119: 131346119
10 SPTAN1 NM_001130438.2(SPTAN1): c.2064G> A (p.Glu688=) single nucleotide variant Uncertain significance rs587784433 GRCh38 Chromosome 9, 128583840: 128583840
11 SPTAN1 NM_001130438.2(SPTAN1): c.2438-13T> G single nucleotide variant Uncertain significance rs587784434 GRCh37 Chromosome 9, 131346987: 131346987
12 SPTAN1 NM_001130438.2(SPTAN1): c.2438-13T> G single nucleotide variant Uncertain significance rs587784434 GRCh38 Chromosome 9, 128584708: 128584708
13 SPTAN1 NM_001130438.2(SPTAN1): c.2674G> T (p.Ala892Ser) single nucleotide variant Uncertain significance rs587784435 GRCh37 Chromosome 9, 131348140: 131348140
14 SPTAN1 NM_001130438.2(SPTAN1): c.2674G> T (p.Ala892Ser) single nucleotide variant Uncertain significance rs587784435 GRCh38 Chromosome 9, 128585861: 128585861
15 SPTAN1 NM_001130438.2(SPTAN1): c.2889G> A (p.Thr963=) single nucleotide variant Conflicting interpretations of pathogenicity rs34654141 GRCh37 Chromosome 9, 131351105: 131351105
16 SPTAN1 NM_001130438.2(SPTAN1): c.2889G> A (p.Thr963=) single nucleotide variant Conflicting interpretations of pathogenicity rs34654141 GRCh38 Chromosome 9, 128588826: 128588826
17 SPTAN1 NM_001130438.2(SPTAN1): c.3193C> T (p.Arg1065Cys) single nucleotide variant Uncertain significance rs587784436 GRCh37 Chromosome 9, 131355299: 131355299
18 SPTAN1 NM_001130438.2(SPTAN1): c.3193C> T (p.Arg1065Cys) single nucleotide variant Uncertain significance rs587784436 GRCh38 Chromosome 9, 128593020: 128593020
19 SPTAN1 NM_001130438.2(SPTAN1): c.3415-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs199802986 GRCh37 Chromosome 9, 131360670: 131360670
20 SPTAN1 NM_001130438.2(SPTAN1): c.3415-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs199802986 GRCh38 Chromosome 9, 128598391: 128598391
21 SPTAN1 NM_001130438.2(SPTAN1): c.3899T> C (p.Ile1300Thr) single nucleotide variant Uncertain significance rs1048236 GRCh37 Chromosome 9, 131367609: 131367609
22 SPTAN1 NM_001130438.2(SPTAN1): c.3899T> C (p.Ile1300Thr) single nucleotide variant Uncertain significance rs1048236 GRCh38 Chromosome 9, 128605330: 128605330
23 SPTAN1 NM_001130438.2(SPTAN1): c.4199A> T (p.Gln1400Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143108250 GRCh37 Chromosome 9, 131370183: 131370183
24 SPTAN1 NM_001130438.2(SPTAN1): c.4199A> T (p.Gln1400Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143108250 GRCh38 Chromosome 9, 128607904: 128607904
25 SPTAN1 NM_001130438.2(SPTAN1): c.5023T> A (p.Phe1675Ile) single nucleotide variant Uncertain significance rs1129924 GRCh37 Chromosome 9, 131374505: 131374505
26 SPTAN1 NM_001130438.2(SPTAN1): c.5023T> A (p.Phe1675Ile) single nucleotide variant Uncertain significance rs1129924 GRCh38 Chromosome 9, 128612226: 128612226
27 SPTAN1 NM_001130438.2(SPTAN1): c.5149-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784437 GRCh37 Chromosome 9, 131377901: 131377901
28 SPTAN1 NM_001130438.2(SPTAN1): c.5149-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784437 GRCh38 Chromosome 9, 128615622: 128615622
29 SPTAN1 NM_001130438.2(SPTAN1): c.5981A> G (p.Glu1994Gly) single nucleotide variant Uncertain significance rs11543346 GRCh37 Chromosome 9, 131386755: 131386755
30 SPTAN1 NM_001130438.2(SPTAN1): c.5981A> G (p.Glu1994Gly) single nucleotide variant Uncertain significance rs11543346 GRCh38 Chromosome 9, 128624476: 128624476
31 SPTAN1 NM_001130438.2(SPTAN1): c.6498C> A (p.Arg2166=) single nucleotide variant Conflicting interpretations of pathogenicity rs72758823 GRCh37 Chromosome 9, 131388888: 131388888
32 SPTAN1 NM_001130438.2(SPTAN1): c.6498C> A (p.Arg2166=) single nucleotide variant Conflicting interpretations of pathogenicity rs72758823 GRCh38 Chromosome 9, 128626609: 128626609
33 SPTAN1 NM_001130438.2(SPTAN1): c.6619_6621delGAG (p.Glu2207del) deletion Pathogenic rs587784438 GRCh37 Chromosome 9, 131389707: 131389709
34 SPTAN1 NM_001130438.2(SPTAN1): c.6619_6621delGAG (p.Glu2207del) deletion Pathogenic rs587784438 GRCh38 Chromosome 9, 128627428: 128627430
35 SPTAN1 NM_001130438.2(SPTAN1): c.6763-7C> T single nucleotide variant Uncertain significance rs587784439 GRCh37 Chromosome 9, 131394399: 131394399
36 SPTAN1 NM_001130438.2(SPTAN1): c.6763-7C> T single nucleotide variant Uncertain significance rs587784439 GRCh38 Chromosome 9, 128632120: 128632120
37 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) duplication Conflicting interpretations of pathogenicity rs587784440 GRCh37 Chromosome 9, 131394551: 131394559
38 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) duplication Conflicting interpretations of pathogenicity rs587784440 GRCh38 Chromosome 9, 128632272: 128632280
39 SPTAN1 NM_001130438.2(SPTAN1): c.7309-15T> C single nucleotide variant Uncertain significance rs370705867 GRCh37 Chromosome 9, 131395473: 131395473
40 SPTAN1 NM_001130438.2(SPTAN1): c.7309-15T> C single nucleotide variant Uncertain significance rs370705867 GRCh38 Chromosome 9, 128633194: 128633194
41 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh37 Chromosome 9, 131370267: 131370267
42 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh38 Chromosome 9, 128607988: 128607988
43 SPTAN1 NM_001130438.2(SPTAN1): c.7319G> A (p.Arg2440Gln) single nucleotide variant Benign/Likely benign rs141980692 GRCh37 Chromosome 9, 131395498: 131395498
44 SPTAN1 NM_001130438.2(SPTAN1): c.7319G> A (p.Arg2440Gln) single nucleotide variant Benign/Likely benign rs141980692 GRCh38 Chromosome 9, 128633219: 128633219
45 SPTAN1 SPTAN1, 6-BP DUP, NT6923 duplication Pathogenic
46 SPTAN1 NM_001130438.2(SPTAN1): c.6605_6607delAGC (p.Gln2202del) deletion Pathogenic rs398122865 GRCh37 Chromosome 9, 131389693: 131389695
47 SPTAN1 NM_001130438.2(SPTAN1): c.6605_6607delAGC (p.Gln2202del) deletion Pathogenic rs398122865 GRCh38 Chromosome 9, 128627414: 128627416
48 SPTAN1 NM_001130438.2(SPTAN1): c.5478+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41275900 GRCh37 Chromosome 9, 131380051: 131380051
49 SPTAN1 NM_001130438.2(SPTAN1): c.5478+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41275900 GRCh38 Chromosome 9, 128617772: 128617772
50 SPTAN1 NM_001130438.2(SPTAN1): c.7161-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187613754 GRCh37 Chromosome 9, 131395078: 131395078

Expression for Epileptic Encephalopathy, Early Infantile, 5

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 5.

Pathways for Epileptic Encephalopathy, Early Infantile, 5

GO Terms for Epileptic Encephalopathy, Early Infantile, 5

Sources for Epileptic Encephalopathy, Early Infantile, 5

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
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....