DEE36
MCID: DVL030
MIFTS: 40

Developmental and Epileptic Encephalopathy 36 (DEE36)

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 36

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 36:

Name: Developmental and Epileptic Encephalopathy 36 57 12
Epileptic Encephalopathy, Early Infantile, 36 57 73 29 6
Congenital Disorder of Glycosylation, Type is 57 12 13
Congenital Disorder of Glycosylation Type is 58 73
Eiee36 57 73
Cdg-is 58 73
Cdg1s 58 73
Epileptic Encephalopathy, Early Infantile, 36; Eiee36 57
Congenital Disorder of Glycosylation Type 1s 58
Early Infantile Epileptic Encephalopathy 36 12
Congenital Disorder of Glycosylation 1s 73
Cdg Syndrome Type is 58
Alg13-Cdg 58
Cdg is 73
Dee36 57
Cdgis 73

Characteristics:

Orphanet epidemiological data:

58
alg13-cdg
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
onset in infancy
de novo mutation
mean onset of seizures at 6.5 months of age
most patient are female
rare patients are male
one male infant (patient a) with transferrin isoelectric focusing showing abnormal n-glycosylation consistent with cdg type i who died at 1 year of age has been reported (last curated november 2020)

Inheritance:
x-linked


HPO:

31
developmental and epileptic encephalopathy 36:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Developmental and Epileptic Encephalopathy 36

OMIM® : 57 Developmental and epileptic encephalopathy-36 (DEE36) is an X-linked neurodevelopmental disorder characterized by the onset of seizures at a mean age of 6.5 months. Most patients present with infantile spasms associated with hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome. The seizures tend to be refractory to treatment, although some patients may respond to benzodiazepines or a ketogenic diet. Affected individuals have severely delayed psychomotor development with poor motor function, severe intellectual disability, poor or absent speech, and limited eye contact. More variable features include feeding difficulties sometimes requiring tube feeding, ocular defects including cortical visual impairment, dysmorphic facial features, and scoliosis or osteopenia. The vast majority of patients reported have been females, although rare affected males with a similar phenotype have been described. Analysis of serum transferrin typically does not show glycosylation abnormalities (summary by Ng et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of the classification of CDGs, see CDG1A (212065). (300884) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 36, also known as epileptic encephalopathy, early infantile, 36, is related to congenital disorder of glycosylation, type ia and congenital disorder of glycosylation, type ie. An important gene associated with Developmental and Epileptic Encephalopathy 36 is ALG13 (ALG13 UDP-N-Acetylglucosaminyltransferase Subunit). The drugs Acetazolamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are infantile spasms and long philtrum

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has material basis in heterozygous mutation in the ALG13 gene on chromosome Xq23.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 36: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. Some EIEE36 patients may present with an abnormal isoelectric focusing of serum transferrin, consistent with a diagnostic classification of congenital disorder of glycosylation type I. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Related Diseases for Developmental and Epileptic Encephalopathy 36

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ia 11.0
2 congenital disorder of glycosylation, type ie 11.0
3 pgm3-congenital disorder of glycosylation 11.0
4 immunodeficiency 23 10.9
5 cad-cdg 10.9
6 gmppa-cdg 10.9
7 man1b1-cdg 10.9
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
9 west syndrome 10.1
10 microcephaly 10.1
11 congenital disorders of n-linked glycosylation and multiple pathway 10.1
12 encephalopathy 10.1
13 hypotonia 10.1
14 seizure disorder 10.1
15 congenital disorder of glycosylation, type in 9.8

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 36:



Diseases related to Developmental and Epileptic Encephalopathy 36

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 36

Human phenotypes related to Developmental and Epileptic Encephalopathy 36:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 infantile spasms 58 31 obligate (100%) Obligate (100%) HP:0012469
2 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
3 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
4 hypsarrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0002521
5 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
6 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
7 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
8 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
9 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
10 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
11 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
12 decreased body weight 58 31 occasional (7.5%) Occasional (29-5%) HP:0004325
13 poor eye contact 58 31 occasional (7.5%) Occasional (29-5%) HP:0000817
14 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
15 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
16 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
17 abnormality of lateral ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0030047
18 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283
19 abnormal pyramidal sign 31 occasional (7.5%) HP:0007256
20 hydrocephalus 31 occasional (7.5%) HP:0000238
21 abnormal facial shape 31 occasional (7.5%) HP:0001999
22 flexion contracture 31 occasional (7.5%) HP:0001371
23 global developmental delay 31 HP:0001263
24 hepatomegaly 31 HP:0002240
25 microcephaly 31 HP:0000252
26 optic atrophy 31 HP:0000648
27 intellectual disability, severe 31 HP:0010864
28 low-set ears 31 HP:0000369
29 abnormality of extrapyramidal motor function 31 HP:0002071
30 recurrent infections 31 HP:0002719
31 cerebral atrophy 31 HP:0002059
32 horizontal nystagmus 31 HP:0000666
33 abnormality of brain morphology 58 Occasional (29-5%)
34 delayed myelination 31 HP:0012448
35 type i transferrin isoform profile 31 HP:0003642
36 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

Skeletal:
osteopenia
joint contractures

Neurologic Central Nervous System:
intellectual disability, severe
cerebral atrophy
inability to walk
delayed myelination
hypotonia
more
Head And Neck Mouth:
high-arched palate

Head And Neck Face:
dysmorphic facial features
coarse features

Abdomen Liver:
hepatomegaly (male patient a)

Skeletal Feet:
swelling of the feet (male patient a)

Immunology:
recurrent infections (male patient a)

Head And Neck Eyes:
nystagmus
hypertelorism
poor eye contact
optic nerve atrophy
cortical visual impairment
more
Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
tube feeding

Head And Neck Ears:
low-set ears

Head And Neck Nose:
upturned nose

Head And Neck Head:
microcephaly (male patient a)

Skeletal Hands:
swelling of the hands (male patient a)

Hematology:
prolonged appt (male patient a)
coagulation defects (male patient a)

Laboratory Abnormalities:
serum transferrin n-glycosylation defect consistent with type i cdg (male patient a)
decreased alg13 activity (male patient a)

Clinical features from OMIM®:

300884 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 36

Drugs for Developmental and Epileptic Encephalopathy 36 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
2 Anticonvulsants Phase 2, Phase 3
3 diuretics Phase 2, Phase 3
4 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
5
Protein C Approved

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG Not yet recruiting NCT04679389 Phase 2, Phase 3 Placebo;Acetazolamide
2 Study of ORL-1M (D-mannose) in Patients With CDG-Ib Unknown status NCT03404869 Phase 1, Phase 2 ORL-1M - D-mannose
3 Role of the Endothelium in Stroke-like Episode Among CDG Patients Completed NCT03250728
4 Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG) Active, not recruiting NCT03173300

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 36

Genetic Tests for Developmental and Epileptic Encephalopathy 36

Genetic tests related to Developmental and Epileptic Encephalopathy 36:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 36 29 ALG13

Anatomical Context for Developmental and Epileptic Encephalopathy 36

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 36:

40
Eye, Liver, Brain

Publications for Developmental and Epileptic Encephalopathy 36

Articles related to Developmental and Epileptic Encephalopathy 36:

# Title Authors PMID Year
1
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing. 61 57 6
25732998 2015
2
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. 6 57
32681751 2020
3
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 6 57
26138355 2016
4
The genetic landscape of infantile spasms. 57 6
24781210 2014
5
De novo mutations in epileptic encephalopathies. 57 6
23934111 2013
6
Diagnostic exome sequencing in persons with severe intellectual disability. 6 57
23033978 2012
7
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 57 6
22492991 2012
8
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 6
28940310 2018

Variations for Developmental and Epileptic Encephalopathy 36

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 36:

6 (show top 50) (show all 178)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG13 NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) SNV Pathogenic 39775 rs867599353 X:110928228-110928228 X:111685000-111685000
2 ALG13 NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) SNV Pathogenic 66086 rs398122394 X:110928268-110928268 X:111685040-111685040
3 ALG13 NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) SNV Pathogenic 423341 rs1064796372 X:110925519-110925519 X:111682291-111682291
4 ALG13 NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) SNV Likely pathogenic 870209 X:110928268-110928268 X:111685040-111685040
5 ALG13 NM_001099922.3(ALG13):c.2797_2799CCT[11] (p.Pro944_Pro945del) Microsatellite Conflicting interpretations of pathogenicity 238294 rs56717389 X:110987997-110988002 X:111744769-111744774
6 ALG13 NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) Microsatellite Conflicting interpretations of pathogenicity 496941 rs750710267 X:110987954-110987956 X:111744726-111744728
7 ALG13 NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) SNV Uncertain significance 639138 rs372209528 X:110970262-110970262 X:111727034-111727034
8 ALG13 NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu) SNV Uncertain significance 640493 rs1602636547 X:110951533-110951533 X:111708305-111708305
9 ALG13 NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) SNV Uncertain significance 644608 rs372176416 X:110955715-110955715 X:111712487-111712487
10 ALG13 NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) SNV Uncertain significance 644727 rs775191661 X:110956472-110956472 X:111713244-111713244
11 ALG13 NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe) SNV Uncertain significance 647916 rs919912146 X:110970661-110970661 X:111727433-111727433
12 ALG13 NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val) SNV Uncertain significance 648460 rs1234385710 X:110968179-110968179 X:111724951-111724951
13 ALG13 NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg) SNV Uncertain significance 567269 rs771207661 X:111003217-111003217 X:111759989-111759989
14 ALG13 NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) SNV Uncertain significance 573058 rs1194966893 X:110970160-110970160 X:111726932-111726932
15 ALG13 NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu) SNV Uncertain significance 574279 rs915629293 X:110952198-110952198 X:111708970-111708970
16 ALG13 NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) SNV Uncertain significance 574335 rs1441099792 X:110973650-110973650 X:111730422-111730422
17 ALG13 NM_001099922.3(ALG13):c.2368+10T>G SNV Uncertain significance 507006 rs1556509952 X:110971543-110971543 X:111728315-111728315
18 ALG13 NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) SNV Uncertain significance 578971 rs760560180 X:110966061-110966061 X:111722833-111722833
19 ALG13 NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser) SNV Uncertain significance 579505 rs760819207 X:111003054-111003054 X:111759826-111759826
20 ALG13 NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe) SNV Uncertain significance 581060 rs755213977 X:110980006-110980006 X:111736778-111736778
21 ALG13 NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp) SNV Uncertain significance 582560 rs759347694 X:111000987-111000987 X:111757759-111757759
22 ALG13 NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe) SNV Uncertain significance 625887 rs1569519563 X:110970895-110970895 X:111727667-111727667
23 ALG13 NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) SNV Uncertain significance 649577 rs775191661 X:110956472-110956472 X:111713244-111713244
24 ALG13 NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys) SNV Uncertain significance 650895 rs1376010208 X:110970672-110970672 X:111727444-111727444
25 ALG13 NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu) SNV Uncertain significance 652414 rs1602635058 X:110951274-110951274 X:111708046-111708046
26 ALG13 NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg) SNV Uncertain significance 653113 rs1602745141 X:110970202-110970202 X:111726974-111726974
27 ALG13 NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup) Duplication Uncertain significance 659261 rs1276026793 X:110980060-110980061 X:111736832-111736833
28 ALG13 NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser) SNV Uncertain significance 659621 rs774646647 X:110951412-110951412 X:111708184-111708184
29 ALG13 NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys) SNV Uncertain significance 660360 rs1602807307 X:110978340-110978340 X:111735112-111735112
30 ALG13 NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala) SNV Uncertain significance 661156 rs1603004235 X:111003162-111003162 X:111759934-111759934
31 ALG13 NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) SNV Uncertain significance 664160 rs200516126 X:110970141-110970141 X:111726913-111726913
32 ALG13 NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) Microsatellite Uncertain significance 238295 rs56717389 X:110987997-110987999 X:111744769-111744771
33 ALG13 NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) SNV Uncertain significance 403876 rs778396216 X:110973754-110973754 X:111730526-111730526
34 ALG13 NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) SNV Uncertain significance 403877 rs1060500008 X:110951323-110951323 X:111708095-111708095
35 ALG13 NM_001099922.3(ALG13):c.350A>T (p.His117Leu) SNV Uncertain significance 473116 rs754497897 X:110928298-110928298 X:111685070-111685070
36 ALG13 NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg) SNV Uncertain significance 473113 rs753692221 X:111000859-111000859 X:111757631-111757631
37 ALG13 NM_001099922.3(ALG13):c.2529+5T>C SNV Uncertain significance 473112 rs749420976 X:110978355-110978355 X:111735127-111735127
38 ALG13 NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) SNV Uncertain significance 195934 rs190790872 X:111000817-111000817 X:111757589-111757589
39 ALG13 NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) SNV Uncertain significance 423965 rs1064796719 X:111000972-111000972 X:111757744-111757744
40 ALG13 NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) SNV Uncertain significance 473118 rs1556449735 X:110928321-110928321 X:111685093-111685093
41 ALG13 NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) SNV Uncertain significance 540334 rs1556516959 X:110979999-110979999 X:111736771-111736771
42 ALG13 NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) SNV Uncertain significance 540335 rs1556509706 X:110971481-110971481 X:111728253-111728253
43 ALG13 NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) SNV Uncertain significance 540336 rs972892187 X:110980098-110980098 X:111736870-111736870
44 ALG13 NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) SNV Uncertain significance 540337 rs1556517111 X:110980063-110980063 X:111736835-111736835
45 ALG13 NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) SNV Uncertain significance 540338 rs374290658 X:110973626-110973626 X:111730398-111730398
46 ALG13 NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) SNV Uncertain significance 540339 rs761412613 X:111003143-111003143 X:111759915-111759915
47 ALG13 NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) SNV Uncertain significance 508540 rs199505558 X:110970138-110970138 X:111726910-111726910
48 ALG13 NM_001099922.3(ALG13):c.2003ACA[1] (p.Asn669del) Microsatellite Uncertain significance 933704 X:110970586-110970588 X:111727358-111727360
49 ALG13 NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) Deletion Uncertain significance 936461 X:110970616-110970621 X:111727388-111727393
50 ALG13 NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe) SNV Uncertain significance 937012 X:110971499-110971499 X:111728271-111728271

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 36:

73
# Symbol AA change Variation ID SNP ID
1 ALG13 p.Lys94Glu VAR_069218 rs867599353
2 ALG13 p.Asn107Ser VAR_069412 rs398122394

Expression for Developmental and Epileptic Encephalopathy 36

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 36.

Pathways for Developmental and Epileptic Encephalopathy 36

GO Terms for Developmental and Epileptic Encephalopathy 36

Sources for Developmental and Epileptic Encephalopathy 36

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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