DEE5
MCID: DVL037
MIFTS: 44

Developmental and Epileptic Encephalopathy 5 (DEE5)

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 5

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 5:

Name: Developmental and Epileptic Encephalopathy 5 57 12
Early Infantile Epileptic Encephalopathy 5 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 5 57 73 13
Eiee5 57 73
Dee5 57 12
Epileptic Encephalopathy, Early Infantile, 5; Eiee5 57
Encephalopathy, Epileptic, Early Infantile, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
de novo mutation


HPO:

31
developmental and epileptic encephalopathy 5:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 5

OMIM® : 57 Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by Saitsu et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. (613477) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 5, also known as early infantile epileptic encephalopathy 5, is related to pyropoikilocytosis, hereditary and autoimmune neuropathy. An important gene associated with Developmental and Epileptic Encephalopathy 5 is SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1), and among its related pathways/superpathways are Metabolism of proteins and Developmental Biology. Affiliated tissues include brain, and related phenotypes are progressive microcephaly and hyperreflexia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has material basis in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 pyropoikilocytosis, hereditary 10.2 SPTB SPTA1
2 autoimmune neuropathy 10.2 SPTBN4 NFASC
3 episodic ataxia, type 6 10.2 SPTBN2 SLC1A6
4 spinocerebellar ataxia 30 10.1 SPTBN2 SLC1A6
5 neurofibromatosis, type ii 10.0 SPTBN1 EPB41L3 EPB41
6 episodic ataxia 10.0 SPTBN2 SLC1A6 KCNQ2
7 nystagmus 7, congenital, autosomal dominant 10.0 PLEK EPB41
8 glutamate-cysteine ligase deficiency 10.0 SPTA1 EPB41 ANK1
9 early infantile epileptic encephalopathy 9.9 SPTBN4 SPTBN2 SPTAN1 KCNQ2
10 nystagmus 2, congenital, autosomal dominant 9.9 PLEK EPB41
11 congenital hemolytic anemia 9.9 SPTB SPTA1 EPB41 ANK1
12 hemolytic anemia 9.9 SPTB SPTA1 EPB41 ANK1
13 nystagmus 4, congenital, autosomal dominant 9.8 PLEK EPB41
14 west syndrome 9.8 SPTBN4 SPTBN2 SPTBN1 SPTAN1 KCNQ2
15 brugada syndrome 9.8 SPTBN4 KCNQ2 ANK2 ANK1
16 myasthenic syndrome, congenital, 19 9.7 CDK5 CAST
17 hereditary elliptocytosis 9.6 SPTB SPTAN1 SPTA1 GYPC EPB41 ANK1
18 toxic encephalopathy 9.5 HTT CDK5 BACE1
19 supranuclear palsy, progressive, 1 9.4 HTT CDK5 BACE1
20 dementia, lewy body 9.4 HTT CDK5 BACE1
21 pick disease of brain 9.4 HTT CDK5 BACE1
22 hereditary spherocytosis 9.4 SPTBN1 SPTB SPTA1 GYPC EPB41 ANK2
23 spinocerebellar ataxia 5 8.7 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
24 disease of mental health 8.2 SLC1A6 PLEK NFASC KCNQ2 HTT CDK5

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 5:



Diseases related to Developmental and Epileptic Encephalopathy 5

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 5

Human phenotypes related to Developmental and Epileptic Encephalopathy 5:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 31 frequent (33%) HP:0000253
2 hyperreflexia 31 HP:0001347
3 spastic tetraplegia 31 HP:0002510
4 intellectual disability, severe 31 HP:0010864
5 hypoplasia of the corpus callosum 31 HP:0002079
6 cerebellar atrophy 31 HP:0001272
7 intellectual disability, profound 31 HP:0002187
8 cerebral atrophy 31 HP:0002059
9 generalized hypotonia 31 HP:0001290
10 hypsarrhythmia 31 HP:0002521
11 atrophy/degeneration affecting the brainstem 31 HP:0007366
12 epileptic encephalopathy 31 HP:0200134
13 cns hypomyelination 31 HP:0003429
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

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

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ANK1 BACE1 CAST CDK5 EPB41 EPB41L3
2 mortality/aging MP:0010768 9.8 ANK1 BACE1 CAST CDK5 EPB41 EPB41L3
3 nervous system MP:0003631 9.5 ANK1 BACE1 CAST CDK5 EPB41L3 HTT

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 5

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 5

Genetic Tests for Developmental and Epileptic Encephalopathy 5

Genetic tests related to Developmental and Epileptic Encephalopathy 5:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 5 29 SPTAN1

Anatomical Context for Developmental and Epileptic Encephalopathy 5

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 5:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 5

Articles related to Developmental and Epileptic Encephalopathy 5:

# Title Authors PMID Year
1
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 6 57
22656320 2013
2
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. 6 57
22258530 2012
3
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. 57 6
22429196 2012
4
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 6 57
20493457 2010
5
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 57
18469812 2008
6
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 57
18065176 2008
7
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. 61
31515523 2019

Variations for Developmental and Epileptic Encephalopathy 5

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 5:

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTAN1 SPTAN1, 6-BP DUP, NT6923 Duplication Pathogenic 12867
2 SPTAN1 NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) Deletion Pathogenic 35483 rs398122865 9:131389692-131389694 9:128627413-128627415
3 SPTAN1 NM_001130438.3(SPTAN1):c.6616_6618GAG[1] (p.Glu2207del) Microsatellite Pathogenic 160024 rs587784438 9:131389702-131389704 9:128627423-128627425
4 SPTAN1 NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) SNV Pathogenic 632592 rs1564286708 9:131374032-131374032 9:128611753-128611753
5 SPTAN1 NM_001130438.3:c.(?_1225)_(1572_?)del Deletion Pathogenic 929476
6 SPTAN1 NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) Microsatellite Pathogenic 160028 rs587784440 9:131394539-131394540 9:128632260-128632261
7 SPTAN1 NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) SNV Likely pathogenic 429871 rs1131691643 9:131374047-131374047 9:128611768-128611768
8 SPTAN1 NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) Duplication Likely pathogenic 666262 rs1589393179 9:131389677-131389678 9:128627398-128627399
9 SPTAN1 NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu) SNV Likely pathogenic 800727 rs1589311413 9:131370524-131370524 9:128608245-128608245
10 SPTAN1 NM_001130438.3(SPTAN1):c.6917_6922GCATGC[3] (p.Arg2308_Met2309dup) Microsatellite Likely pathogenic 207370 rs796053335 9:131394559-131394560 9:128632280-128632281
11 SPTAN1 NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) SNV Likely pathogenic 625454 rs1564197227 9:131331129-131331129 9:128568850-128568850
12 SPTAN1 NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) SNV Likely pathogenic 436849 rs1554769022 9:131394586-131394586 9:128632307-128632307
13 SPTAN1 NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) SNV Uncertain significance 448966 rs146418243 9:131379952-131379952 9:128617673-128617673
14 SPTAN1 NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) SNV Uncertain significance 495258 rs754419719 9:131337023-131337023 9:128574744-128574744
15 SPTAN1 NM_001130438.3(SPTAN1):c.6763-7C>T SNV Uncertain significance 160026 rs587784439 9:131394399-131394399 9:128632120-128632120
16 SPTAN1 NM_001130438.3(SPTAN1):c.7161-9C>T SNV Uncertain significance 139316 rs187613754 9:131395078-131395078 9:128632799-128632799
17 SPTAN1 NM_001130438.3(SPTAN1):c.7309-15T>C SNV Uncertain significance 160030 rs370705867 9:131395473-131395473 9:128633194-128633194
18 SPTAN1 NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) SNV Uncertain significance 626172 rs372062686 9:131346654-131346654 9:128584375-128584375
19 SPTAN1 NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) SNV Uncertain significance 386680 rs968327265 9:131345517-131345517 9:128583238-128583238
20 SPTAN1 NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) SNV Uncertain significance 387800 rs746824729 9:131374004-131374004 9:128611725-128611725
21 SPTAN1 NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) SNV Uncertain significance 638004 rs1589327320 9:131374458-131374458 9:128612179-128612179
22 SPTAN1 NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp) SNV Uncertain significance 638337 rs1589203624 9:131343248-131343248 9:128580969-128580969
23 SPTAN1 NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) SNV Uncertain significance 576053 rs772367229 9:131339226-131339226 9:128576947-128576947
24 SPTAN1 NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) SNV Uncertain significance 569671 rs745697305 9:131370227-131370227 9:128607948-128607948
25 SPTAN1 NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) SNV Uncertain significance 461237 rs772995493 9:131395182-131395182 9:128632903-128632903
26 SPTAN1 NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) SNV Uncertain significance 159994 rs587784431 9:131343266-131343266 9:128580987-128580987
27 SPTAN1 NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) SNV Uncertain significance 159996 rs79650677 9:131344788-131344788 9:128582509-128582509
28 SPTAN1 NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) SNV Uncertain significance 159997 rs587784432 9:131344999-131344999 9:128582720-128582720
29 SPTAN1 NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) SNV Uncertain significance 159998 rs370304886 9:131345019-131345019 9:128582740-128582740
30 SPTAN1 NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) SNV Uncertain significance 159999 rs587784433 9:131346119-131346119 9:128583840-128583840
31 SPTAN1 NM_001130438.3(SPTAN1):c.2438-13T>G SNV Uncertain significance 160000 rs587784434 9:131346987-131346987 9:128584708-128584708
32 SPTAN1 NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) SNV Uncertain significance 160003 rs587784435 9:131348140-131348140 9:128585861-128585861
33 SPTAN1 NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) SNV Uncertain significance 160005 rs34654141 9:131351105-131351105 9:128588826-128588826
34 SPTAN1 NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) SNV Uncertain significance 160006 rs587784436 9:131355299-131355299 9:128593020-128593020
35 SPTAN1 NM_001130438.3(SPTAN1):c.3415-9G>T SNV Uncertain significance 160007 rs199802986 9:131360670-131360670 9:128598391-128598391
36 SPTAN1 NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) SNV Uncertain significance 160011 rs1048236 9:131367609-131367609 9:128605330-128605330
37 SPTAN1 NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) SNV Uncertain significance 160012 rs143108250 9:131370183-131370183 9:128607904-128607904
38 SPTAN1 NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) SNV Uncertain significance 160014 rs1129924 9:131374505-131374505 9:128612226-128612226
39 SPTAN1 NM_001130438.3(SPTAN1):c.5149-10C>T SNV Uncertain significance 160015 rs587784437 9:131377901-131377901 9:128615622-128615622
40 SPTAN1 NM_001130438.3(SPTAN1):c.5478+12G>A SNV Uncertain significance 139300 rs41275900 9:131380051-131380051 9:128617772-128617772
41 SPTAN1 NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) SNV Uncertain significance 160019 rs11543346 9:131386755-131386755 9:128624476-128624476
42 SPTAN1 NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) SNV Uncertain significance 160022 rs72758823 9:131388888-131388888 9:128626609-128626609
43 SPTAN1 NM_001130438.3(SPTAN1):c.364-3C>G SNV Uncertain significance 930357 9:131336951-131336951 9:128574672-128574672
44 SPTAN1 NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) SNV Uncertain significance 930479 9:131355302-131355302 9:128593023-128593023
45 SPTAN1 NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) SNV Uncertain significance 930568 9:131343333-131343333 9:128581054-128581054
46 SPTAN1 NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) SNV Uncertain significance 436848 rs771906889 9:131337484-131337484 9:128575205-128575205
47 SPTAN1 NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) SNV Uncertain significance 931620 9:131395557-131395557 9:128633278-128633278
48 SPTAN1 NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs) Deletion Uncertain significance 976054 9:131348075-131348075 9:128585796-128585796
49 SPTAN1 NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn) SNV Uncertain significance 976098 9:131370519-131370519 9:128608240-128608240
50 SPTAN1 NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) SNV Uncertain significance 976120 9:131395160-131395160 9:128632881-128632881

Expression for Developmental and Epileptic Encephalopathy 5

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 5.

Pathways for Developmental and Epileptic Encephalopathy 5

Pathways related to Developmental and Epileptic Encephalopathy 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
2
Show member pathways
13.15 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
3
Show member pathways
13.13 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
4
Show member pathways
13.11 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
5
Show member pathways
12.8 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
6
Show member pathways
12.71 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
7 12.42 NFASC KCNQ2 HTT CDK5 CAST BACE1
8
Show member pathways
11.79 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
9 10.84 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
10 10.82 SPTBN1 SPTAN1

GO Terms for Developmental and Epileptic Encephalopathy 5

Cellular components related to Developmental and Epileptic Encephalopathy 5 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 SPTBN5 SPTBN4 SPTBN1 SPTAN1 SPTA1 SLC1A6
2 cytoplasm GO:0005737 10.4 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
3 plasma membrane GO:0005886 10.37 SPTBN4 SPTBN1 SLC1A6 PLEK NFASC KCNQ2
4 cytosol GO:0005829 10.28 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
5 cytoskeleton GO:0005856 10.03 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
6 axon GO:0030424 9.95 SPTBN4 SPTA1 NFASC HTT CDK5 BACE1
7 glutamatergic synapse GO:0098978 9.89 SPTBN2 SPTBN1 SLC1A6 CDK5
8 cell cortex GO:0005938 9.8 SPTBN4 SPTBN2 SPTB SPTAN1 SPTA1 EPB41
9 cytoplasmic side of plasma membrane GO:0009898 9.72 SPTA1 EPB41 ANK1
10 M band GO:0031430 9.67 SPTBN1 ANK2 ANK1
11 axon initial segment GO:0043194 9.63 SPTBN4 NFASC KCNQ2
12 node of Ranvier GO:0033268 9.61 SPTBN4 NFASC KCNQ2
13 A band GO:0031672 9.58 ANK2 ANK1
14 paranode region of axon GO:0033270 9.58 SPTBN4 EPB41L3
15 cuticular plate GO:0032437 9.57 SPTBN1 SPTA1
16 cortical cytoskeleton GO:0030863 9.55 SPTBN5 SPTBN1 SPTA1 GYPC EPB41
17 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.54 SPTB SPTA1
18 axolemma GO:0030673 9.54 SPTBN1 EPB41L3 ANK1
19 spectrin-associated cytoskeleton GO:0014731 9.35 SPTBN1 SPTB SPTA1 EPB41 ANK1
20 spectrin GO:0008091 9.17 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1

Biological processes related to Developmental and Epileptic Encephalopathy 5 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.87 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
2 axon guidance GO:0007411 9.86 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
3 protein localization to plasma membrane GO:0072659 9.85 SPTBN4 SPTBN1 NFASC EPB41L3 ANK2 ANK1
4 cytoskeleton organization GO:0007010 9.76 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1 EPB41L3
5 cortical actin cytoskeleton organization GO:0030866 9.71 PLEK EPB41L3 EPB41 CDK5
6 positive regulation of protein binding GO:0032092 9.63 SPTA1 EPB41 CDK5
7 ER to Golgi vesicle-mediated transport GO:0006888 9.61 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
8 plasma membrane organization GO:0007009 9.51 SPTBN1 SPTA1
9 regulation of protein localization to plasma membrane GO:1903076 9.49 SPTBN1 CDK5
10 transmission of nerve impulse GO:0019226 9.48 SPTBN4 NFASC
11 paranodal junction assembly GO:0030913 9.43 EPB41L3 ANK2
12 actin filament capping GO:0051693 9.17 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1

Molecular functions related to Developmental and Epileptic Encephalopathy 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
2 cadherin binding GO:0045296 9.8 SPTBN2 SPTBN1 SPTAN1 CAST
3 calmodulin binding GO:0005516 9.71 SPTBN1 SPTAN1 KCNQ2 EPB41
4 ion channel binding GO:0044325 9.7 HTT ANK2 ANK1
5 phospholipid binding GO:0005543 9.62 SPTBN4 SPTBN2 SPTBN1 SPTB
6 cytoskeletal protein binding GO:0008092 9.61 EPB41L3 EPB41 CDK5
7 actin binding GO:0003779 9.61 SPTBN5 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1
8 ankyrin binding GO:0030506 9.56 SPTBN4 SPTBN1 SPTB KCNQ2
9 spectrin binding GO:0030507 9.55 SPTBN5 SPTBN4 EPB41 ANK2 ANK1
10 cytoskeletal adaptor activity GO:0008093 9.51 ANK2 ANK1
11 dynactin binding GO:0034452 9.46 SPTBN5 HTT
12 microtubule cortical anchor activity GO:0106006 9.37 SPTBN4 EPB41L3
13 structural constituent of cytoskeleton GO:0005200 9.32 SPTBN4 SPTBN2 SPTBN1 SPTB SPTAN1 SPTA1

Sources for Developmental and Epileptic Encephalopathy 5

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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