EIEE36
MCID: EPL169
MIFTS: 44

Epileptic Encephalopathy, Early Infantile, 36 (EIEE36)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 36

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 36:

Name: Epileptic Encephalopathy, Early Infantile, 36 58 76 30 6
Congenital Disorder of Glycosylation, Type is 58 13 74
Congenital Disorder of Glycosylation Type I 12 15 17
Congenital Disorder of Glycosylation Type is 60 76
Eiee36 58 76
Cdg-is 60 76
Cdg1s 60 76
Glycosylation, Congenital Disorder of, Type Ie 41
Glycosylation, Congenital Disorder of, Type is 41
Congenital Disorder of Glycosylation, Type Iu 74
Glycosylation, Congenital Disorder of, Type I 41
Congenital Disorder of Glycosylation Type 1s 60
Congenital Disorders of Glycosylation Type I 38
Early Infantile Epileptic Encephalopathy 36 12
Congenital Disorder of Glycosylation 1s 76
Cdg Syndrome Type is 60
Alg13-Cdg 60
Cdg is 76
Cdgis 76

Characteristics:

Orphanet epidemiological data:

60
alg13-cdg
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

58
Miscellaneous:
onset in infancy
de novo mutation
all females carry the same heterozygous missense mutation (n107s, )
one male infant (patient a) has been reported (last curated november 2016)
male patient a died at 1 year of age

Inheritance:
x-linked dominant


HPO:

33
epileptic encephalopathy, early infantile, 36:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 36

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 36, also known as congenital disorder of glycosylation, type is, is related to congenital disorder of glycosylation, type iii and congenital disorder of glycosylation, type in. An important gene associated with Epileptic Encephalopathy, Early Infantile, 36 is ALG13 (ALG13 UDP-N-Acetylglucosaminyltransferase Subunit), and among its related pathways/superpathways are N-Glycan biosynthesis and Fructose and mannose metabolism. Affiliated tissues include brain, eye and liver, and related phenotypes are infantile spasms and long philtrum

Disease Ontology : 12 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

OMIM : 58 Early infantile epileptic encephalopathy-36 is an X-linked dominant neurodevelopmental disorder characterized by onset of seizures in infancy followed by delayed psychomotor development. Some patients may have dysmorphic features. Only females with this specific phenotype have been reported (summary by Dimassi et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350. For a discussion of the classification of CDGs, see CDG1A (212065). (300884)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 36

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Diseases related to Epileptic Encephalopathy, Early Infantile, 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 31.8 PMM2 SERPINA1
2 congenital disorder of glycosylation, type in 29.9 ALG13 HP PMM2
3 congenital disorder of glycosylation, type i/iix 12.5
4 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 11.4
5 cog5-congenital disorder of glycosylation 11.3
6 muscular dystrophy-dystroglycanopathy , type c, 15 11.1
7 congenital disorder of glycosylation, type iid 10.9
8 congenital disorder of glycosylation, type ig 10.9
9 congenital disorder of glycosylation, type ih 10.9
10 cad-cdg 10.9
11 gmppa-cdg 10.9
12 west syndrome 10.1
13 seizure disorder 10.1
14 nutmeg liver 10.0 CP HP
15 congenital disorder of glycosylation, type ia 10.0 HP PMM2
16 chronic pulmonary heart disease 10.0 CP HP
17 congenital disorder of glycosylation, type ij 10.0
18 congenital disorder of glycosylation, type it 10.0
19 iron overload in africa 9.9 HEPH HP
20 protein-energy malnutrition 9.9 CP HP
21 boutonneuse fever 9.9 CP SERPINA1
22 mastitis 9.9 CP HP
23 ancylostomiasis 9.9 CP SERPINA1
24 subendocardial myocardial infarction 9.8 A2M SERPINA1
25 oral cavity cancer 9.8 CP HEPH
26 granulosa cell tumor of the ovary 9.8 CP SERPINA1
27 geniculate herpes zoster 9.8 HP SERPINA1
28 byssinosis 9.8 A2M SERPINA1
29 corticosteroid-binding globulin deficiency 9.7 A2M CP HP
30 atransferrinemia 9.7 CP HEPH HP
31 pneumoconiosis 9.7 CP SERPINA1
32 aceruloplasminemia 9.7 CP HEPH
33 deficiency anemia 9.7 CP HEPH HP
34 testicular yolk sac tumor 9.7 HP SERPINA1
35 fructose intolerance, hereditary 9.6 HP PMM2 SERPINA1
36 hemochromatosis, type 1 9.3 CP HEPH HP SERPINA1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 36:



Diseases related to Epileptic Encephalopathy, Early Infantile, 36

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 36

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 36:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 infantile spasms 60 33 obligate (100%) Obligate (100%) HP:0012469
2 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
3 hypsarrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0002521
4 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
5 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
6 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
7 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
8 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
9 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
10 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
11 clumsiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002312
12 adducted thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001181
13 decreased body weight 60 33 occasional (7.5%) Occasional (29-5%) HP:0004325
14 poor head control 60 33 occasional (7.5%) Occasional (29-5%) HP:0002421
15 short chin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000331
16 global brain atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002283
17 poor eye contact 60 33 occasional (7.5%) Occasional (29-5%) HP:0000817
18 abnormality of lateral ventricle 60 33 occasional (7.5%) Occasional (29-5%) HP:0030047
19 hydrocephalus 33 occasional (7.5%) HP:0000238
20 abnormal pyramidal sign 33 occasional (7.5%) HP:0007256
21 abnormal facial shape 33 occasional (7.5%) HP:0001999
22 flexion contracture 33 occasional (7.5%) HP:0001371
23 low-set ears 33 HP:0000369
24 seizures 33 HP:0001250
25 global developmental delay 33 HP:0001263
26 hepatomegaly 33 HP:0002240
27 microcephaly 33 HP:0000252
28 optic atrophy 33 HP:0000648
29 intellectual disability, severe 33 HP:0010864
30 recurrent infections 33 HP:0002719
31 abnormality of extrapyramidal motor function 33 HP:0002071
32 horizontal nystagmus 33 HP:0000666
33 cerebral atrophy 33 HP:0002059
34 abnormality of brain morphology 60 Occasional (29-5%)
35 delayed myelination 33 HP:0012448
36 type i transferrin isoform profile 33 HP:0003642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
poor eye contact
optic nerve atrophy (male patient a)
nystagmus (male patient a)
swelling of the eyelids (male patient a)

Neurologic Central Nervous System:
intellectual disability, severe
cerebral atrophy
delayed myelination
hypotonia
seizures, refractory
more
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)

Head And Neck Ears:
low-set ears

Skeletal:
joint contractures

Head And Neck Face:
dysmorphic facial features

Abdomen Liver:
hepatomegaly (male patient a)

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

Immunology:
recurrent infections (male patient a)

Clinical features from OMIM:

300884

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 36:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 CP HEPH HP PMM2

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 36

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 36

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 36

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 36:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 36 30 ALG13

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 36

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 36:

42
Brain, Eye, Liver, Heart, Ovary, Testes

Publications for Epileptic Encephalopathy, Early Infantile, 36

Articles related to Epileptic Encephalopathy, Early Infantile, 36:

# Title Authors Year
1
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. ( 26138355 )
2016
2
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing. ( 25732998 )
2015
3
The genetic landscape of infantile spasms. ( 24781210 )
2014
4
De novo mutations in epileptic encephalopathies. ( 23934111 )
2013
5
Diagnostic exome sequencing in persons with severe intellectual disability. ( 23033978 )
2012
6
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. ( 22492991 )
2012
7
Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. ( 19729382 )
2009
8
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. ( 11916311 )
2002

Variations for Epileptic Encephalopathy, Early Infantile, 36

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 36:

76
# Symbol AA change Variation ID SNP ID
1 ALG13 p.Lys94Glu VAR_069218 rs867599353
2 ALG13 p.Asn107Ser VAR_069412 rs398122394

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 36:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG13 NM_001099922.2(ALG13): c.339A> G (p.Ala113=) single nucleotide variant Pathogenic rs397514587 GRCh37 Chromosome X, 110928287: 110928287
2 ALG13 NM_001099922.2(ALG13): c.339A> G (p.Ala113=) single nucleotide variant Pathogenic rs397514587 GRCh38 Chromosome X, 111685059: 111685059
3 ALG13 NM_001257235.2(ALG13): c.8A> G (p.Asn3Ser) single nucleotide variant Pathogenic rs398122394 GRCh37 Chromosome X, 110928268: 110928268
4 ALG13 NM_001257235.2(ALG13): c.8A> G (p.Asn3Ser) single nucleotide variant Pathogenic rs398122394 GRCh38 Chromosome X, 111685040: 111685040
5 ALG13 NM_001257230.1(ALG13): c.2426G> A (p.Cys809Tyr) single nucleotide variant Uncertain significance rs190790872 GRCh37 Chromosome X, 111000817: 111000817
6 ALG13 NM_001257230.1(ALG13): c.2426G> A (p.Cys809Tyr) single nucleotide variant Uncertain significance rs190790872 GRCh38 Chromosome X, 111757589: 111757589
7 ALG13 NM_001099922.2(ALG13): c.183C> T (p.Tyr61=) single nucleotide variant Benign rs146925326 GRCh37 Chromosome X, 110925461: 110925461
8 ALG13 NM_001099922.2(ALG13): c.183C> T (p.Tyr61=) single nucleotide variant Benign rs146925326 GRCh38 Chromosome X, 111682233: 111682233
9 ALG13 NM_001099922.2(ALG13): c.1266T> C (p.Gly422=) single nucleotide variant Benign rs5985637 GRCh37 Chromosome X, 110963338: 110963338
10 ALG13 NM_001099922.2(ALG13): c.1266T> C (p.Gly422=) single nucleotide variant Benign rs5985637 GRCh38 Chromosome X, 111720110: 111720110
11 ALG13 NM_001099922.2(ALG13): c.2213A> G (p.Glu738Gly) single nucleotide variant Uncertain significance rs374174400 GRCh37 Chromosome X, 110970964: 110970964
12 ALG13 NM_001099922.2(ALG13): c.2213A> G (p.Glu738Gly) single nucleotide variant Uncertain significance rs374174400 GRCh38 Chromosome X, 111727736: 111727736
13 ALG13 NM_001099922.2(ALG13): c.2573A> G (p.Asn858Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs756238772 GRCh37 Chromosome X, 110979985: 110979985
14 ALG13 NM_001099922.2(ALG13): c.2573A> G (p.Asn858Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs756238772 GRCh38 Chromosome X, 111736757: 111736757
15 ALG13 NM_001099922.2(ALG13): c.2672C> T (p.Ser891Phe) single nucleotide variant Benign rs200066623 GRCh38 Chromosome X, 111736856: 111736856
16 ALG13 NM_001099922.2(ALG13): c.2672C> T (p.Ser891Phe) single nucleotide variant Benign rs200066623 GRCh37 Chromosome X, 110980084: 110980084
17 ALG13 NM_001099922.2(ALG13): c.2830_2835delCCTCCT (p.Pro944_Pro945del) deletion Uncertain significance rs56717389 GRCh37 Chromosome X, 110988030: 110988035
18 ALG13 NM_001099922.2(ALG13): c.2830_2835delCCTCCT (p.Pro944_Pro945del) deletion Uncertain significance rs56717389 GRCh38 Chromosome X, 111744802: 111744807
19 ALG13 NM_001099922.2(ALG13): c.2833_2835delCCT (p.Pro945del) deletion Uncertain significance rs56717389 GRCh38 Chromosome X, 111744805: 111744807
20 ALG13 NM_001099922.2(ALG13): c.2833_2835delCCT (p.Pro945del) deletion Uncertain significance rs56717389 GRCh37 Chromosome X, 110988033: 110988035
21 ALG13 NM_001257230.1(ALG13): c.752A> G (p.Gln251Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372521943 GRCh37 Chromosome X, 110961132: 110961132
22 ALG13 NM_001257230.1(ALG13): c.752A> G (p.Gln251Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372521943 GRCh38 Chromosome X, 111717904: 111717904
23 ALG13 NM_001099922.2(ALG13): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs747478031 GRCh37 Chromosome X, 110963376: 110963376
24 ALG13 NM_001099922.2(ALG13): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs747478031 GRCh38 Chromosome X, 111720148: 111720148
25 ALG13 NM_001099922.2(ALG13): c.1152G> A (p.Ala384=) single nucleotide variant Benign rs145353928 GRCh37 Chromosome X, 110961404: 110961404
26 ALG13 NM_001099922.2(ALG13): c.1152G> A (p.Ala384=) single nucleotide variant Benign rs145353928 GRCh38 Chromosome X, 111718176: 111718176
27 ALG13 NM_001099922.2(ALG13): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance rs1057522541 GRCh37 Chromosome X, 110961469: 110961469
28 ALG13 NM_001099922.2(ALG13): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance rs1057522541 GRCh38 Chromosome X, 111718241: 111718241
29 ALG13 NM_001099922.2(ALG13): c.2248-4A> G single nucleotide variant Benign rs370438099 GRCh37 Chromosome X, 110971409: 110971409
30 ALG13 NM_001099922.2(ALG13): c.2248-4A> G single nucleotide variant Benign rs370438099 GRCh38 Chromosome X, 111728181: 111728181
31 ALG13 NM_001099922.2(ALG13): c.3414A> C (p.Ter1138Tyr) single nucleotide variant Benign/Likely benign rs201820102 GRCh38 Chromosome X, 111759999: 111759999
32 ALG13 NM_001099922.2(ALG13): c.3414A> C (p.Ter1138Tyr) single nucleotide variant Benign/Likely benign rs201820102 GRCh37 Chromosome X, 111003227: 111003227
33 ALG13 NM_001099922.2(ALG13): c.638G> A (p.Ser213Asn) single nucleotide variant Benign/Likely benign rs374748006 GRCh37 Chromosome X, 110951509: 110951509
34 ALG13 NM_001099922.2(ALG13): c.638G> A (p.Ser213Asn) single nucleotide variant Benign/Likely benign rs374748006 GRCh38 Chromosome X, 111708281: 111708281
35 ALG13 NM_001099922.2(ALG13): c.1922A> G (p.His641Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs766772102 GRCh38 Chromosome X, 111727001: 111727001
36 ALG13 NM_001099922.2(ALG13): c.1922A> G (p.His641Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs766772102 GRCh37 Chromosome X, 110970229: 110970229
37 ALG13 NM_001099922.2(ALG13): c.3008A> G (p.Tyr1003Cys) single nucleotide variant Benign/Likely benign rs201055779 GRCh37 Chromosome X, 111000850: 111000850
38 ALG13 NM_001099922.2(ALG13): c.3008A> G (p.Tyr1003Cys) single nucleotide variant Benign/Likely benign rs201055779 GRCh38 Chromosome X, 111757622: 111757622
39 ALG13 NM_001099922.2(ALG13): c.1591T> C (p.Leu531=) single nucleotide variant Benign/Likely benign rs112837367 GRCh37 Chromosome X, 110967116: 110967116
40 ALG13 NM_001099922.2(ALG13): c.1591T> C (p.Leu531=) single nucleotide variant Benign/Likely benign rs112837367 GRCh38 Chromosome X, 111723888: 111723888
41 ALG13 NM_001099922.2(ALG13): c.1843C> T (p.Leu615=) single nucleotide variant Benign/Likely benign rs374231091 GRCh37 Chromosome X, 110970150: 110970150
42 ALG13 NM_001099922.2(ALG13): c.1843C> T (p.Leu615=) single nucleotide variant Benign/Likely benign rs374231091 GRCh38 Chromosome X, 111726922: 111726922
43 ALG13 NM_001099922.2(ALG13): c.3039A> G (p.Val1013=) single nucleotide variant Benign rs183032531 GRCh37 Chromosome X, 111000881: 111000881
44 ALG13 NM_001099922.2(ALG13): c.3039A> G (p.Val1013=) single nucleotide variant Benign rs183032531 GRCh38 Chromosome X, 111757653: 111757653
45 ALG13 NM_001099922.2(ALG13): c.3143C> G (p.Ala1048Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs773401427 GRCh37 Chromosome X, 111000985: 111000985
46 ALG13 NM_001099922.2(ALG13): c.3143C> G (p.Ala1048Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs773401427 GRCh38 Chromosome X, 111757757: 111757757
47 ALG13 NM_001099922.2(ALG13): c.2070T> C (p.Asp690=) single nucleotide variant Likely benign rs371239344 GRCh37 Chromosome X, 110970653: 110970653
48 ALG13 NM_001099922.2(ALG13): c.2070T> C (p.Asp690=) single nucleotide variant Likely benign rs371239344 GRCh38 Chromosome X, 111727425: 111727425
49 ALG13 NM_001099922.2(ALG13): c.2799T> A (p.Pro933=) single nucleotide variant Likely benign rs13440710 GRCh37 Chromosome X, 110987999: 110987999
50 ALG13 NM_001099922.2(ALG13): c.2799T> A (p.Pro933=) single nucleotide variant Likely benign rs13440710 GRCh38 Chromosome X, 111744771: 111744771

Expression for Epileptic Encephalopathy, Early Infantile, 36

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 36.

Pathways for Epileptic Encephalopathy, Early Infantile, 36

Pathways related to Epileptic Encephalopathy, Early Infantile, 36 according to KEGG:

38
# Name Kegg Source Accession
1 N-Glycan biosynthesis hsa00510
2 Fructose and mannose metabolism hsa00051
3 Protein processing in endoplasmic reticulum hsa04141

Pathways related to Epileptic Encephalopathy, Early Infantile, 36 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 CP HEPH

GO Terms for Epileptic Encephalopathy, Early Infantile, 36

Cellular components related to Epileptic Encephalopathy, Early Infantile, 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 A2M CP HP SERPINA1
2 platelet alpha granule lumen GO:0031093 9.16 A2M SERPINA1
3 blood microparticle GO:0072562 8.8 A2M CP HP

Biological processes related to Epileptic Encephalopathy, Early Infantile, 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.32 A2M SERPINA1
2 negative regulation of peptidase activity GO:0010466 9.26 A2M SERPINA1
3 cellular iron ion homeostasis GO:0006879 9.16 CP HEPH
4 acute-phase response GO:0006953 8.96 HP SERPINA1
5 copper ion transport GO:0006825 8.62 CP HEPH

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.32 A2M SERPINA1
2 protease binding GO:0002020 9.26 A2M SERPINA1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.16 A2M SERPINA1
4 copper ion binding GO:0005507 8.96 CP HEPH
5 ferroxidase activity GO:0004322 8.62 CP HEPH

Sources for Epileptic Encephalopathy, Early Infantile, 36

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
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