MCID: EPL169
MIFTS: 48

Epileptic Encephalopathy, Early Infantile, 36

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 36

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

Name: Epileptic Encephalopathy, Early Infantile, 36 57 75 29 6
Congenital Disorder of Glycosylation, Type is 57 13 73
Congenital Disorder of Glycosylation Type 1u 53 29 6
Congenital Disorder of Glycosylation, Type Iu 53 73
Congenital Disorder of Glycosylation Type is 59 75
Congenital Disorder of Glycosylation Type I 12 15
Dpm2-Cdg 12 53
Eiee36 57 75
Cdg-is 59 75
Cdg1s 59 75
Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy 53
Carbohydrate Deficient Glycoprotein Syndrome Type Iu 53
Cmd with Intellectual Disability and Severe Epilepsy 53
Congenital Disorders of Glycosylation Type I 37
Glycosylation, Congenital Disorder of, Type Ie 40
Glycosylation, Congenital Disorder of, Type is 40
Glycosylation, Congenital Disorder of, Type I 40
Congenital Disorder of Glycosylation Type Iu 53
Congenital Disorder of Glycosylation Type 1s 59
Congenital Disorder of Glycosylation 1s 75
Cdg Syndrome Type Iu 53
Cdg Syndrome Type is 59
Alg13-Cdg 59
Cdg-Iu 53
Cdg is 75
Cdg1u 53
Cdgis 75

Characteristics:

Orphanet epidemiological data:

59
alg13-cdg
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
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:

32
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 : 75 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 in and congenital disorder of glycosylation, type i/iix. 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, liver and eye, and related phenotypes are hypertelorism and nystagmus

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

OMIM : 57 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 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

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 28.8 ALG13 DPAGT1 DPM2 HP PMM2 TF
2 congenital disorder of glycosylation, type i/iix 12.3
3 congenital disorder of glycosylation, type iii 11.1
4 cog5-congenital disorder of glycosylation 11.1
5 congenital disorder of glycosylation, type iu 10.9
6 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.9
7 congenital disorder of glycosylation, type io 10.9
8 congenital disorder of glycosylation, type iid 10.7
9 congenital disorder of glycosylation, type ig 10.7
10 congenital disorder of glycosylation, type ih 10.7
11 gmppa-cdg 10.7
12 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.6 PMM2 TF
13 hypochromic microcytic anemia 10.5 CP TF
14 eales disease 10.4 CP TF
15 metal metabolism disorder 10.4 CP TF
16 melancholia 10.3 HP TF
17 iron metabolism disease 10.3 CP TF
18 nutmeg liver 10.3 CP HP
19 hemosiderosis 10.3 CP TF
20 chronic pulmonary heart disease 10.2 CP HP
21 type i 10.2
22 protein-energy malnutrition 10.2 CP TF
23 dysentery 10.2 HP TF
24 congenital disorder of glycosylation, type ii 10.2 SERPINA1 TF
25 retinitis pigmentosa 7 10.2 SERPINA1 TF
26 boutonneuse fever 10.1 CP SERPINA1
27 siderosis 10.1 SERPINA1 TF
28 allergic urticaria 10.1 A2M SERPINA1
29 granulosa cell tumor of the ovary 10.1 CP SERPINA1
30 subendocardial myocardial infarction 10.1 A2M SERPINA1
31 skeletal tuberculosis 10.0 CP HP
32 hemoglobinopathy 10.0 HP TF
33 congenital disorder of glycosylation, type ia 10.0 HP PMM2 TF
34 geniculate herpes zoster 10.0 HP SERPINA1
35 byssinosis 10.0 A2M SERPINA1
36 sleeping sickness 10.0 HP TF
37 muscular dystrophy-dystroglycanopathy 9.9
38 epilepsy 9.9
39 muscular dystrophy 9.9
40 aceruloplasminemia 9.9 CP HEPH TF
41 ancylostomiasis 9.8 CP SERPINA1 TF
42 corticosteroid-binding globulin deficiency 9.8 A2M CP HP
43 mastitis 9.7 CP HP
44 liver disease 9.7 CP SERPINA1 TF
45 testicular yolk sac tumor 9.6 HP SERPINA1 TF
46 congenital hemolytic anemia 9.6 HP TF
47 bilirubin metabolic disorder 9.3 HP SLC35A2
48 fructose intolerance, hereditary 9.3 HP PMM2 SERPINA1 TF
49 atransferrinemia 9.3 CP HEPH HP TF
50 deficiency anemia 9.3 CP HEPH HP TF

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
4 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
7 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
8 clumsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002312
9 adducted thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001181
10 decreased body weight 59 32 occasional (7.5%) Occasional (29-5%) HP:0004325
11 infantile spasms 59 32 obligate (100%) Obligate (100%) HP:0012469
12 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
13 poor head control 59 32 occasional (7.5%) Occasional (29-5%) HP:0002421
14 hypsarrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0002521
15 short chin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000331
16 poor eye contact 59 32 occasional (7.5%) Occasional (29-5%) HP:0000817
17 global brain atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002283
18 abnormality of lateral ventricle 59 32 occasional (7.5%) Occasional (29-5%) HP:0030047
19 low-set ears 32 HP:0000369
20 hydrocephalus 32 occasional (7.5%) HP:0000238
21 seizures 32 HP:0001250
22 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256
23 global developmental delay 32 HP:0001263
24 hepatomegaly 32 HP:0002240
25 abnormal facial shape 32 occasional (7.5%) HP:0001999
26 microcephaly 32 HP:0000252
27 optic atrophy 32 HP:0000648
28 flexion contracture 32 occasional (7.5%) HP:0001371
29 intellectual disability, severe 32 HP:0010864
30 recurrent infections 32 HP:0002719
31 abnormality of extrapyramidal motor function 32 HP:0002071
32 horizontal nystagmus 32 HP:0000666
33 cerebral atrophy 32 HP:0002059
34 abnormality of brain morphology 59 Occasional (29-5%)
35 type i transferrin isoform profile 32 HP:0003642
36 delayed myelination 32 HP:0012448

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 Congenital Disorder of Glycosylation Type 1u 29 DPM2
2 Epileptic Encephalopathy, Early Infantile, 36 29 ALG13

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 36

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

41
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 36

Articles related to Epileptic Encephalopathy, Early Infantile, 36:

# Title Authors Year
1
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. ( 22492991 )
2012
2
Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. ( 19729382 )
2009
3
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). ( 16435229 )
2005
4
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. ( 12626422 )
2003
5
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. ( 11916311 )
2002
6
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. ( 11583570 )
2001

Variations for Epileptic Encephalopathy, Early Infantile, 36

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

75
# 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 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPM2 NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys) single nucleotide variant Pathogenic rs397514503 GRCh37 Chromosome 9, 130699738: 130699738
2 DPM2 NM_003863.3(DPM2): c.68A> G (p.Tyr23Cys) single nucleotide variant Pathogenic rs397514503 GRCh38 Chromosome 9, 127937459: 127937459
3 DPM2 NM_003863.3(DPM2): c.4_93del90 single nucleotide variant Pathogenic rs797044467 GRCh38 Chromosome 9, 127937524: 127937524
4 DPM2 NM_003863.3(DPM2): c.4_93del90 single nucleotide variant Pathogenic rs797044467 GRCh37 Chromosome 9, 130699803: 130699803
5 ALG13 NM_001099922.2(ALG13): c.339A> G (p.Ala113=) single nucleotide variant Pathogenic rs397514587 GRCh37 Chromosome X, 110928287: 110928287
6 ALG13 NM_001099922.2(ALG13): c.339A> G (p.Ala113=) single nucleotide variant Pathogenic rs397514587 GRCh38 Chromosome X, 111685059: 111685059
7 ALG13 NM_001257235.2(ALG13): c.8A> G (p.Asn3Ser) single nucleotide variant Pathogenic rs398122394 GRCh37 Chromosome X, 110928268: 110928268
8 ALG13 NM_001257235.2(ALG13): c.8A> G (p.Asn3Ser) single nucleotide variant Pathogenic rs398122394 GRCh38 Chromosome X, 111685040: 111685040
9 ALG13 NM_001257230.1(ALG13): c.2426G> A (p.Cys809Tyr) single nucleotide variant Uncertain significance rs190790872 GRCh37 Chromosome X, 111000817: 111000817
10 ALG13 NM_001257230.1(ALG13): c.2426G> A (p.Cys809Tyr) single nucleotide variant Uncertain significance rs190790872 GRCh38 Chromosome X, 111757589: 111757589
11 ALG13 NM_001099922.2(ALG13): c.183C> T (p.Tyr61=) single nucleotide variant Benign rs146925326 GRCh37 Chromosome X, 110925461: 110925461
12 ALG13 NM_001099922.2(ALG13): c.183C> T (p.Tyr61=) single nucleotide variant Benign rs146925326 GRCh38 Chromosome X, 111682233: 111682233
13 ALG13 NM_001099922.2(ALG13): c.1266T> C (p.Gly422=) single nucleotide variant Benign rs5985637 GRCh37 Chromosome X, 110963338: 110963338
14 ALG13 NM_001099922.2(ALG13): c.1266T> C (p.Gly422=) single nucleotide variant Benign rs5985637 GRCh38 Chromosome X, 111720110: 111720110
15 ALG13 NM_001099922.2(ALG13): c.2213A> G (p.Glu738Gly) single nucleotide variant Uncertain significance rs374174400 GRCh37 Chromosome X, 110970964: 110970964
16 ALG13 NM_001099922.2(ALG13): c.2213A> G (p.Glu738Gly) single nucleotide variant Uncertain significance rs374174400 GRCh38 Chromosome X, 111727736: 111727736
17 ALG13 NM_001099922.2(ALG13): c.2573A> G (p.Asn858Ser) single nucleotide variant Benign rs756238772 GRCh37 Chromosome X, 110979985: 110979985
18 ALG13 NM_001099922.2(ALG13): c.2573A> G (p.Asn858Ser) single nucleotide variant Benign rs756238772 GRCh38 Chromosome X, 111736757: 111736757
19 ALG13 NM_001099922.2(ALG13): c.2672C> T (p.Ser891Phe) single nucleotide variant Benign rs200066623 GRCh38 Chromosome X, 111736856: 111736856
20 ALG13 NM_001099922.2(ALG13): c.2672C> T (p.Ser891Phe) single nucleotide variant Benign rs200066623 GRCh37 Chromosome X, 110980084: 110980084
21 ALG13 NM_001099922.2(ALG13): c.2830_2835delCCTCCT (p.Pro944_Pro945del) deletion Uncertain significance rs878854172 GRCh37 Chromosome X, 110988030: 110988035
22 ALG13 NM_001099922.2(ALG13): c.2830_2835delCCTCCT (p.Pro944_Pro945del) deletion Uncertain significance rs878854172 GRCh38 Chromosome X, 111744802: 111744807
23 ALG13 NM_001099922.2(ALG13): c.2833_2835delCCT (p.Pro945del) deletion Uncertain significance rs56717389 GRCh38 Chromosome X, 111744805: 111744807
24 ALG13 NM_001099922.2(ALG13): c.2833_2835delCCT (p.Pro945del) deletion Uncertain significance rs56717389 GRCh37 Chromosome X, 110988033: 110988035
25 ALG13 NM_001257230.1(ALG13): c.752A> G (p.Gln251Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372521943 GRCh38 Chromosome X, 111717904: 111717904
26 ALG13 NM_001257230.1(ALG13): c.752A> G (p.Gln251Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372521943 GRCh37 Chromosome X, 110961132: 110961132
27 ALG13 NM_001099922.2(ALG13): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs747478031 GRCh37 Chromosome X, 110963376: 110963376
28 ALG13 NM_001099922.2(ALG13): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs747478031 GRCh38 Chromosome X, 111720148: 111720148
29 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 GRCh38 Chromosome 9, 127937463: 127937463
30 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 GRCh37 Chromosome 9, 130699742: 130699742
31 ALG13 NM_001099922.2(ALG13): c.1152G> A (p.Ala384=) single nucleotide variant Benign rs145353928 GRCh37 Chromosome X, 110961404: 110961404
32 ALG13 NM_001099922.2(ALG13): c.1152G> A (p.Ala384=) single nucleotide variant Benign rs145353928 GRCh38 Chromosome X, 111718176: 111718176
33 ALG13 NM_001099922.2(ALG13): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance rs1057522541 GRCh37 Chromosome X, 110961469: 110961469
34 ALG13 NM_001099922.2(ALG13): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance rs1057522541 GRCh38 Chromosome X, 111718241: 111718241
35 ALG13 NM_001099922.2(ALG13): c.2248-4A> G single nucleotide variant Benign rs370438099 GRCh37 Chromosome X, 110971409: 110971409
36 ALG13 NM_001099922.2(ALG13): c.2248-4A> G single nucleotide variant Benign rs370438099 GRCh38 Chromosome X, 111728181: 111728181
37 ALG13 NM_001099922.2(ALG13): c.3414A> C (p.Ter1138Tyr) single nucleotide variant Benign/Likely benign rs201820102 GRCh37 Chromosome X, 111003227: 111003227
38 ALG13 NM_001099922.2(ALG13): c.3414A> C (p.Ter1138Tyr) single nucleotide variant Benign/Likely benign rs201820102 GRCh38 Chromosome X, 111759999: 111759999
39 ALG13 NM_001099922.2(ALG13): c.638G> A (p.Ser213Asn) single nucleotide variant Benign/Likely benign rs374748006 GRCh38 Chromosome X, 111708281: 111708281
40 ALG13 NM_001099922.2(ALG13): c.638G> A (p.Ser213Asn) single nucleotide variant Benign/Likely benign rs374748006 GRCh37 Chromosome X, 110951509: 110951509
41 ALG13 NM_001099922.2(ALG13): c.1922A> G (p.His641Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs766772102 GRCh37 Chromosome X, 110970229: 110970229
42 ALG13 NM_001099922.2(ALG13): c.1922A> G (p.His641Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs766772102 GRCh38 Chromosome X, 111727001: 111727001
43 ALG13 NM_001099922.2(ALG13): c.3008A> G (p.Tyr1003Cys) single nucleotide variant Benign/Likely benign rs201055779 GRCh37 Chromosome X, 111000850: 111000850
44 ALG13 NM_001099922.2(ALG13): c.3008A> G (p.Tyr1003Cys) single nucleotide variant Benign/Likely benign rs201055779 GRCh38 Chromosome X, 111757622: 111757622
45 ALG13 NM_001099922.2(ALG13): c.1591T> C (p.Leu531=) single nucleotide variant Benign/Likely benign rs112837367 GRCh37 Chromosome X, 110967116: 110967116
46 ALG13 NM_001099922.2(ALG13): c.1591T> C (p.Leu531=) single nucleotide variant Benign/Likely benign rs112837367 GRCh38 Chromosome X, 111723888: 111723888
47 ALG13 NM_001099922.2(ALG13): c.1843C> T (p.Leu615=) single nucleotide variant Benign/Likely benign rs374231091 GRCh37 Chromosome X, 110970150: 110970150
48 ALG13 NM_001099922.2(ALG13): c.1843C> T (p.Leu615=) single nucleotide variant Benign/Likely benign rs374231091 GRCh38 Chromosome X, 111726922: 111726922
49 ALG13 NM_001099922.2(ALG13): c.3039A> G (p.Val1013=) single nucleotide variant Benign rs183032531 GRCh37 Chromosome X, 111000881: 111000881
50 ALG13 NM_001099922.2(ALG13): c.3039A> G (p.Val1013=) single nucleotide variant Benign rs183032531 GRCh38 Chromosome X, 111757653: 111757653

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:

37
# 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
12.52 ALG13 DOLK DPAGT1 DPM2 PMM2 SERPINA1
2
Show member pathways
11.99 CP HEPH TF
3
Show member pathways
11.64 ALG13 DOLK DPAGT1 DPM2 PMM2
4 11.03 HEPH TF
5 10.86 CP TF
6
Show member pathways
10.71 ALG13 DOLK DPAGT1 DPM2

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 endoplasmic reticulum GO:0005783 9.63 ALG13 DOLK DPAGT1 DPM2 SERPINA1 SLC35A2
2 endoplasmic reticulum lumen GO:0005788 9.43 CP SERPINA1 TF
3 integral component of endoplasmic reticulum membrane GO:0030176 9.13 DOLK DPAGT1 DPM2
4 blood microparticle GO:0072562 8.92 A2M CP HP TF

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.63 CP SERPINA1 TF
2 platelet degranulation GO:0002576 9.54 A2M SERPINA1 TF
3 protein N-linked glycosylation GO:0006487 9.51 DPAGT1 PMM2
4 iron ion homeostasis GO:0055072 9.49 HEPH TF
5 acute-phase response GO:0006953 9.48 HP SERPINA1
6 iron ion transport GO:0006826 9.43 HEPH TF
7 copper ion transport GO:0006825 9.4 CP HEPH
8 cellular iron ion homeostasis GO:0006879 9.33 CP HEPH TF
9 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.32 ALG13 DPAGT1
10 dolichyl diphosphate biosynthetic process GO:0006489 9.26 DOLK DPAGT1
11 dolichol metabolic process GO:0019348 8.96 DPAGT1 DPM2
12 protein glycosylation GO:0006486 8.92 DOLK DPAGT1 DPM2 PMM2

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 CP HEPH
2 ferrous iron binding GO:0008198 8.96 HEPH TF
3 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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