EIEE36
MCID: EPL169
MIFTS: 53

Epileptic Encephalopathy, Early Infantile, 36 (EIEE36)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 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
Glycosylation, Congenital Disorder of, Type Ie 40
Glycosylation, Congenital Disorder of, Type is 40
Glycosylation, Congenital Disorder of, Type Iu 40
Glycosylation, Congenital Disorder of, Type I 40
Congenital Disorder of Glycosylation Type Iu 53
Congenital Disorder of Glycosylation Type 1s 59
Congenital Disorders of Glycosylation Type I 37
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 iii and congenital disorder of glycosylation, type iid. 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 hypertelorism and nystagmus

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 329178Disease definitionCongenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.Visit the Orphanet disease page for more resources.

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 all 26)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 31.8 ALG2 PMM2
2 congenital disorder of glycosylation, type iid 31.1 ALG2 MPI PMM2
3 congenital disorder of glycosylation, type in 27.7 ALG1 ALG13 ALG2 ALG6 CCDC115 DOLK
4 congenital disorder of glycosylation, type iu 12.6
5 congenital disorder of glycosylation, type i/iix 12.4
6 cog5-congenital disorder of glycosylation 11.3
7 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 11.2
8 muscular dystrophy-dystroglycanopathy , type c, 15 11.1
9 congenital disorder of glycosylation, type ig 10.9
10 congenital disorder of glycosylation, type ih 10.9
11 cad-cdg 10.9
12 gmppa-cdg 10.9
13 infantile epileptic encephalopathy 10.1
14 muscular dystrophy-dystroglycanopathy 10.1
15 epilepsy 10.1
16 muscular dystrophy 10.1
17 protein-losing enteropathy 10.1 ALG6 MPI
18 congenital disorder of glycosylation, type iik 10.0 PMM2 SLC35C1
19 congenital disorder of glycosylation, type iif 9.9 ALG2 PMM2
20 congenital myasthenic syndromes with glycosylation defect 9.9 ALG2 DPAGT1
21 congenital disorder of glycosylation, type iia 9.8 ALG2 MPI PMM2
22 congenital disorder of glycosylation, type iim 9.8 ALG2 PMM2
23 walker-warburg syndrome 9.8 ALG1 ALG2 DPM2
24 fructose intolerance, hereditary 9.8 ALG2 PMM2
25 carbohydrate metabolic disorder 9.7 ALG2 ALG6 MPI PMM2
26 congenital disorder of glycosylation, type ii 9.6 ALG2 CCDC115 PMM2 SLC35C1

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 global brain atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002283
16 short chin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000331
17 poor eye contact 59 32 occasional (7.5%) Occasional (29-5%) HP:0000817
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 global developmental delay 32 HP:0001263
23 hepatomegaly 32 HP:0002240
24 abnormal facial shape 32 occasional (7.5%) HP:0001999
25 microcephaly 32 HP:0000252
26 optic atrophy 32 HP:0000648
27 flexion contracture 32 occasional (7.5%) HP:0001371
28 intellectual disability, severe 32 HP:0010864
29 recurrent infections 32 HP:0002719
30 abnormality of extrapyramidal motor function 32 HP:0002071
31 horizontal nystagmus 32 HP:0000666
32 cerebral atrophy 32 HP:0002059
33 abnormality of brain morphology 59 Occasional (29-5%)
34 type i transferrin isoform profile 32 HP:0003642
35 delayed myelination 32 HP:0012448
36 abnormal pyramidal sign 32 occasional (7.5%) HP:0007256

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.1 ALG1 DOLK DPM2 MPI PMM2 SRD5A3

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, Eye, Liver, Heart

Publications for Epileptic Encephalopathy, Early Infantile, 36

Articles related to Epileptic Encephalopathy, Early Infantile, 36:

# Title Authors Year
1
Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. ( 19729382 )
2009
2
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:

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 164)
# 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 DPM2 NM_003863.3(DPM2): c.177C> T (p.Leu59=) single nucleotide variant Conflicting interpretations of pathogenicity rs35334863 GRCh37 Chromosome 9, 130698851: 130698851
10 DPM2 NM_003863.3(DPM2): c.177C> T (p.Leu59=) single nucleotide variant Conflicting interpretations of pathogenicity rs35334863 GRCh38 Chromosome 9, 127936572: 127936572
11 DPM2 NM_003863.3(DPM2): c.183G> A (p.Leu61=) single nucleotide variant Benign/Likely benign rs11552794 GRCh37 Chromosome 9, 130698845: 130698845
12 DPM2 NM_003863.3(DPM2): c.183G> A (p.Leu61=) single nucleotide variant Benign/Likely benign rs11552794 GRCh38 Chromosome 9, 127936566: 127936566
13 DPM2 NM_003863.3(DPM2): c.213T> C (p.Tyr71=) single nucleotide variant Benign rs6781 GRCh37 Chromosome 9, 130698043: 130698043
14 DPM2 NM_003863.3(DPM2): c.213T> C (p.Tyr71=) single nucleotide variant Benign rs6781 GRCh38 Chromosome 9, 127935764: 127935764
15 DPM2 NM_003863.3(DPM2): c.227C> G (p.Thr76Ser) single nucleotide variant Benign rs7997 GRCh37 Chromosome 9, 130698029: 130698029
16 DPM2 NM_003863.3(DPM2): c.227C> G (p.Thr76Ser) single nucleotide variant Benign rs7997 GRCh38 Chromosome 9, 127935750: 127935750
17 ALG13 NM_001257230.1(ALG13): c.2426G> A (p.Cys809Tyr) single nucleotide variant Uncertain significance rs190790872 GRCh37 Chromosome X, 111000817: 111000817
18 ALG13 NM_001257230.1(ALG13): c.2426G> A (p.Cys809Tyr) single nucleotide variant Uncertain significance rs190790872 GRCh38 Chromosome X, 111757589: 111757589
19 ALG13 NM_001099922.2(ALG13): c.183C> T (p.Tyr61=) single nucleotide variant Benign rs146925326 GRCh37 Chromosome X, 110925461: 110925461
20 ALG13 NM_001099922.2(ALG13): c.183C> T (p.Tyr61=) single nucleotide variant Benign rs146925326 GRCh38 Chromosome X, 111682233: 111682233
21 ALG13 NM_001099922.2(ALG13): c.1266T> C (p.Gly422=) single nucleotide variant Benign rs5985637 GRCh37 Chromosome X, 110963338: 110963338
22 ALG13 NM_001099922.2(ALG13): c.1266T> C (p.Gly422=) single nucleotide variant Benign rs5985637 GRCh38 Chromosome X, 111720110: 111720110
23 ALG13 NM_001099922.2(ALG13): c.2213A> G (p.Glu738Gly) single nucleotide variant Uncertain significance rs374174400 GRCh37 Chromosome X, 110970964: 110970964
24 ALG13 NM_001099922.2(ALG13): c.2213A> G (p.Glu738Gly) single nucleotide variant Uncertain significance rs374174400 GRCh38 Chromosome X, 111727736: 111727736
25 ALG13 NM_001099922.2(ALG13): c.2573A> G (p.Asn858Ser) single nucleotide variant Benign rs756238772 GRCh37 Chromosome X, 110979985: 110979985
26 ALG13 NM_001099922.2(ALG13): c.2573A> G (p.Asn858Ser) single nucleotide variant Benign rs756238772 GRCh38 Chromosome X, 111736757: 111736757
27 ALG13 NM_001099922.2(ALG13): c.2672C> T (p.Ser891Phe) single nucleotide variant Benign rs200066623 GRCh38 Chromosome X, 111736856: 111736856
28 ALG13 NM_001099922.2(ALG13): c.2672C> T (p.Ser891Phe) single nucleotide variant Benign rs200066623 GRCh37 Chromosome X, 110980084: 110980084
29 ALG13 NM_001099922.2(ALG13): c.2830_2835delCCTCCT (p.Pro944_Pro945del) deletion Uncertain significance rs878854172 GRCh37 Chromosome X, 110988030: 110988035
30 ALG13 NM_001099922.2(ALG13): c.2830_2835delCCTCCT (p.Pro944_Pro945del) deletion Uncertain significance rs878854172 GRCh38 Chromosome X, 111744802: 111744807
31 ALG13 NM_001099922.2(ALG13): c.2833_2835delCCT (p.Pro945del) deletion Uncertain significance rs56717389 GRCh38 Chromosome X, 111744805: 111744807
32 ALG13 NM_001099922.2(ALG13): c.2833_2835delCCT (p.Pro945del) deletion Uncertain significance rs56717389 GRCh37 Chromosome X, 110988033: 110988035
33 ALG13 NM_001257230.1(ALG13): c.752A> G (p.Gln251Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372521943 GRCh37 Chromosome X, 110961132: 110961132
34 ALG13 NM_001257230.1(ALG13): c.752A> G (p.Gln251Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs372521943 GRCh38 Chromosome X, 111717904: 111717904
35 ALG13 NM_001099922.2(ALG13): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs747478031 GRCh37 Chromosome X, 110963376: 110963376
36 ALG13 NM_001099922.2(ALG13): c.1304A> G (p.Asn435Ser) single nucleotide variant Uncertain significance rs747478031 GRCh38 Chromosome X, 111720148: 111720148
37 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 GRCh37 Chromosome 9, 130699742: 130699742
38 DPM2 NM_003863.3(DPM2): c.64A> G (p.Thr22Ala) single nucleotide variant Likely benign rs7042788 GRCh38 Chromosome 9, 127937463: 127937463
39 ALG13 NM_001099922.2(ALG13): c.1152G> A (p.Ala384=) single nucleotide variant Benign rs145353928 GRCh37 Chromosome X, 110961404: 110961404
40 ALG13 NM_001099922.2(ALG13): c.1152G> A (p.Ala384=) single nucleotide variant Benign rs145353928 GRCh38 Chromosome X, 111718176: 111718176
41 ALG13 NM_001099922.2(ALG13): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance rs1057522541 GRCh37 Chromosome X, 110961469: 110961469
42 ALG13 NM_001099922.2(ALG13): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance rs1057522541 GRCh38 Chromosome X, 111718241: 111718241
43 ALG13 NM_001099922.2(ALG13): c.2248-4A> G single nucleotide variant Benign rs370438099 GRCh37 Chromosome X, 110971409: 110971409
44 ALG13 NM_001099922.2(ALG13): c.2248-4A> G single nucleotide variant Benign rs370438099 GRCh38 Chromosome X, 111728181: 111728181
45 ALG13 NM_001099922.2(ALG13): c.3414A> C (p.Ter1138Tyr) single nucleotide variant Benign/Likely benign rs201820102 GRCh37 Chromosome X, 111003227: 111003227
46 ALG13 NM_001099922.2(ALG13): c.3414A> C (p.Ter1138Tyr) single nucleotide variant Benign/Likely benign rs201820102 GRCh38 Chromosome X, 111759999: 111759999
47 ALG13 NM_001099922.2(ALG13): c.638G> A (p.Ser213Asn) single nucleotide variant Benign/Likely benign rs374748006 GRCh37 Chromosome X, 110951509: 110951509
48 ALG13 NM_001099922.2(ALG13): c.638G> A (p.Ser213Asn) single nucleotide variant Benign/Likely benign rs374748006 GRCh38 Chromosome X, 111708281: 111708281
49 ALG13 NM_001099922.2(ALG13): c.1922A> G (p.His641Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs766772102 GRCh37 Chromosome X, 110970229: 110970229
50 ALG13 NM_001099922.2(ALG13): c.1922A> G (p.His641Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs766772102 GRCh38 Chromosome X, 111727001: 111727001

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
13.65 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1
2
Show member pathways
13.46 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1
3
Show member pathways
12.29 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1
4
Show member pathways
12.02 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1
5
Show member pathways
11.49 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1
6
Show member pathways
11.04 MPI PMM2

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 integral component of membrane GO:0016021 9.91 ALG1 ALG2 ALG6 DOLK DPAGT1 DPM2
2 endoplasmic reticulum GO:0005783 9.56 ALG1 ALG13 ALG6 CCDC115 DOLK DPAGT1
3 integral component of endoplasmic reticulum membrane GO:0030176 9.33 DOLK DPAGT1 DPM2
4 endoplasmic reticulum membrane GO:0005789 9.28 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.56 ALG1 ALG2 ALG6 DPAGT1 DPM2 MPI
2 protein N-linked glycosylation GO:0006487 9.5 ALG6 DPAGT1 PMM2
3 carbohydrate transport GO:0008643 9.46 RFT1 SLC35C1
4 mannosylation GO:0097502 9.43 ALG1 ALG2
5 dolichyl diphosphate biosynthetic process GO:0006489 9.43 DOLK DPAGT1 SRD5A3
6 GDP-mannose biosynthetic process GO:0009298 9.4 MPI PMM2
7 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.37 ALG2 ALG6
8 dolichol metabolic process GO:0019348 9.33 DPAGT1 DPM2 SRD5A3
9 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.1 ALG1 ALG13 ALG2 ALG6 DPAGT1 SRD5A3

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.63 ALG1 ALG13 ALG2 ALG6 DOLK DPAGT1
2 transferase activity, transferring glycosyl groups GO:0016757 9.02 ALG1 ALG13 ALG2 ALG6 DPAGT1
3 transferase activity, transferring hexosyl groups GO:0016758 8.96 ALG13 ALG6

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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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