CDG2M
MCID: CNG389
MIFTS: 48

Congenital Disorder of Glycosylation, Type Iim (CDG2M)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iim

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Iim:

Name: Congenital Disorder of Glycosylation, Type Iim 57 53 29 6 72
Congenital Disorder of Glycosylation Type Iim 12 53 59 74 15
Cdg2m 57 53 59 74
Epileptic Encephalopathy, Early Infantile, 22 57 12 74
Congenital Disorder of Glycosylation Type 2m 12 53 59
Slc35a2-Cdg 12 53 59
Cdg-Iim 53 59 74
Epileptic Encephalopathy, Early Infantile, 22; Eiee22 57 53
Cdg Syndrome Type Iim 53 59
Cdg Iim 57 74
Cdgiim 57 74
Eiee22 57 74
Glycosylation, Congenital Disorder of, Type Iim 40
Congenital Disorder of Glycosylation, X-Linked 13
Congenital Disorder of Glycosylation X-Linked 74
Congenital Disorder of Glycosylation 2m 74
Spasms, Infantile 44
Cdg Iim; Cdgiim 57

Characteristics:

Orphanet epidemiological data:

59
slc35a2-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
onset in infancy
males carry mutations in the somatic mosaic state
abnormal transferrin pattern tends to improve with age

Inheritance:
x-linked dominant
somatic mosaicism (in males)


HPO:

32
congenital disorder of glycosylation, type iim:
Inheritance somatic mosaicism x-linked dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070265
ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA356961
UMLS 72 C3806688

Summaries for Congenital Disorder of Glycosylation, Type Iim

UniProtKB/Swiss-Prot : 74 Congenital disorder of glycosylation 2M: A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iim, also known as congenital disorder of glycosylation type iim, is related to congenital disorder of glycosylation, type in and slc35a2-congenital disorder of glycosylation, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iim is SLC35A2 (Solute Carrier Family 35 Member A2), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. The drugs PK 11195 and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum, and related phenotypes are gastroesophageal reflux and nystagmus

Disease Ontology : 12 A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has material basis in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 356961DefinitionA rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).Visit the Orphanet disease page for more resources.

OMIM : 57 Congenital disorder of glycosylation type IIm, or early infantile epileptic encephalopathy-22, is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech. Brain malformations include cerebral and cerebellar atrophy. Additionally, some patients had dysmorphic features or coarse facies (Ng et al., 2013; Kodera et al., 2013). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300896)

Related Diseases for Congenital Disorder of Glycosylation, Type Iim

Diseases in the Disorder of Multiple Glycosylation family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type in
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type Iim via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 28.2 SLC35A1 ALG9 ALG3
2 slc35a2-congenital disorder of glycosylation 12.1
3 west syndrome 12.1
4 congenital disorders of n-linked glycosylation and multiple pathway 10.3
5 hypotonia 10.3
6 ataxia and polyneuropathy, adult-onset 10.2
7 cerebral atrophy 10.2
8 encephalopathy 10.2
9 tuberous sclerosis 10.1
10 seizure disorder 10.1
11 lennox-gastaut syndrome 9.9
12 visual epilepsy 9.9
13 epilepsy 9.9
14 cortical dysplasia, complex, with other brain malformations 7 9.8
15 lissencephaly 9.8
16 pertussis 9.8
17 cerebral palsy 9.8
18 astrocytoma 9.8
19 cytomegalovirus infection 9.8
20 neonatal hypoxic and ischemic brain injury 9.8
21 infantile epilepsy syndrome 9.8
22 congenital disorder of glycosylation, type iif 8.9 SLC35A2 SLC35A1 B4GALT1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iim:



Diseases related to Congenital Disorder of Glycosylation, Type Iim

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iim

Human phenotypes related to Congenital Disorder of Glycosylation, Type Iim:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
2 nystagmus 32 HP:0000639
3 seizures 32 HP:0001250
4 coarse facial features 32 HP:0000280
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 thick vermilion border 32 HP:0012471
8 microcephaly 32 HP:0000252
9 thick eyebrow 32 HP:0000574
10 open mouth 32 HP:0000194
11 generalized hypotonia 32 HP:0001290
12 cerebellar hypoplasia 32 HP:0001321
13 epileptic encephalopathy 32 HP:0200134
14 hypsarrhythmia 32 HP:0002521
15 recurrent infections 32 HP:0002719
16 rod-cone dystrophy 32 HP:0000510
17 hypoplasia of the corpus callosum 32 HP:0002079
18 cerebral atrophy 32 HP:0002059
19 delayed myelination 32 HP:0012448
20 ocular flutter 32 HP:0031931

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
ocular flutter
thick eyebrows
retinitis pigmentosa

Head And Neck Head:
microcephaly

Immunology:
recurrent infections

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux (1 patient)

Skeletal Limbs:
shortened extremities

Laboratory Abnormalities:
abnormal serum transferrin pattern (in some patients)
loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

Neurologic Central Nervous System:
seizures
epileptic encephalopathy
hypsarrhythmia
cerebral atrophy
delayed myelination
more
Head And Neck Mouth:
open mouth
thick lips

Head And Neck Nose:
broad nasal bridge

Head And Neck Face:
coarse facies
dysmorphic features
maxillary prognathism

Genitourinary Kidneys:
acute nephrotic syndrome (1 patient)

Hematology:
coagulation defects (1 patient)

Clinical features from OMIM:

300896

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Iim:


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iim

Drugs for Congenital Disorder of Glycosylation, Type Iim (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 PK 11195 Phase 4 85532-75-8
2
tannic acid Approved Phase 3 1401-55-4
3
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
4 Strawberry Approved Phase 3
5
Ethanol Approved Phase 3 64-17-5 702
6
Cosyntropin Approved Phase 3 16960-16-0 16129617
7
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
8
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
12
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
13
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
14
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
15 Micronutrients Phase 3
16 Vitamins Phase 3
17 Vitamin B 6 Phase 3
18 Trace Elements Phase 3
19 Folate Phase 3
20 Vitamin B9 Phase 3
21 Vitamin B Complex Phase 3
22 Nutrients Phase 3
23 Soy Bean Phase 2, Phase 3
24 Calcium, Dietary Phase 2, Phase 3
25 Serotonin Uptake Inhibitors Phase 3
26 Neurotransmitter Uptake Inhibitors Phase 3
27 Serotonin Agents Phase 3
28 Hormones Phase 2, Phase 3
29 Hormone Antagonists Phase 2, Phase 3
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
31 Peripheral Nervous System Agents Phase 2, Phase 3
32 Antiemetics Phase 2, Phase 3
33 Anti-Inflammatory Agents Phase 2, Phase 3
34 glucocorticoids Phase 2, Phase 3
35 Gastrointestinal Agents Phase 2, Phase 3
36 Neuroprotective Agents Phase 2, Phase 3
37 Methylprednisolone Acetate Phase 2, Phase 3
38 Protective Agents Phase 2, Phase 3
39 Antineoplastic Agents, Hormonal Phase 2, Phase 3
40 Autonomic Agents Phase 2, Phase 3
41 Prednisolone acetate Phase 2, Phase 3
42
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
43
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
44
Nitrazepam Approved Phase 2 146-22-5 4506
45
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
46
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
47
Verapamil Approved Phase 2 52-53-9 2520
48 Adrenocorticotropic Hormone Phase 2
49 Melanocyte-Stimulating Hormones Phase 2
50 beta-endorphin Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 Neuroinflammation in Children With Infantile Spasms Measured With 11C-PK11195 Positron Emission Tomography: Response to ACTH Completed NCT02092883 Phase 4 ACTH
2 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
3 Addition of Pyridoxine to Prednisolone in the Treatment of Infantile Spasms: A Randomized Controlled Trial Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
4 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome. Completed NCT02224703 Phase 3 GWP42003-P;Placebo Control
5 Randomized Trial of High Dose (4mg/kg) Versus Usual Dose (2mg/kg) Oral Prednisolone in the Treatment of Infantile Spasms. Completed NCT01575639 Phase 3 Oral prednisolone
6 Efficacy and Tolerability of the Modified Atkins Diet in Patients With Infantile Spasms: a Pilot Study. Completed NCT01006811 Phase 2, Phase 3
7 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
8 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
9 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
10 Evaluation of the Modified Atkins Diet in Children With Epileptic Spasms Refractory to Hormonal Therapy: A Randomized Controlled Trial Recruiting NCT03807141 Phase 2, Phase 3
11 Prednisolone vs. Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
12 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Active, not recruiting NCT02954887 Phase 3 GWP42003-P
13 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Active, not recruiting NCT02953548 Phase 3 GWP42003-P
14 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution as Adjunctive Therapy With Vigabatrin as Initial Therapy in Patients With Infantile Spasms Active, not recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
15 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
16 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
17 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
18 A Novel Approach to Infantile Spasms: Combined Cosyntropin Injectable Suspension, 1 mg/mL and Vigabatrin Induction Therapy Enrolling by invitation NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
19 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
20 Intravenous Methylprednisolone Versus High Dose Oral Prednisolone for the Treatment of Infantile Spasms: a Randomized Open-labelled Trial Not yet recruiting NCT03876444 Phase 2, Phase 3 Intravenous Methylprednisolone;Oral Pednisolone
21 Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
22 Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
23 A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
24 Evaluation of the Modified Atkins Diet in Children With Infantile Spasms Refractory to Hormonal Therapy: a Randomized Controlled Trial Withdrawn NCT01549288 Phase 2, Phase 3
25 Phase II Randomized Study of Early Surgery Vs Multiple Sequential Antiepileptic Drug Therapy for Infantile Spasms Refractory to Standard Treatment Completed NCT00004758 Phase 2 carbamazepine;corticotropin;nitrazepam;pyridoxine;valproic acid
26 A Double-blind, Placebo-controlled, Dose-ranging Clinical Study to Evaluate the Safety, Tolerability, and Antiepileptic Activity of Ganaxolone in Treatment of Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
27 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
28 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
29 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
30 A Phase 2 Study to Assess the Safety, Tolerability, Exploratory Efficacy, and Pharmacokinetics of Orally Administered JBPOS0101 for Refractory Infantile Spasms Patients Not yet recruiting NCT03976076 Phase 2 JBPOS0101
31 An Open-label Adaptive Study for the Assessment of Safety, Tolerability, Pharmacokinetics, and Efficacy of Multiple Doses of Radiprodil in Subjects With Drug-resistant Infantile Spasms Terminated NCT02829827 Phase 2 Radiprodil
32 An Open-label Clinical Study to Evaluate the Safety and Antiepileptic Activity of Ganaxolone in Treatment of Patients Diagnosed With Infantile Spasms. Terminated NCT00442104 Phase 2 Ganaxolone
33 A Phase 2 Study to Assess the Efficacy and Safety of Cannabidiol Oral Solution for the Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
34 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
35 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
36 Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome Completed NCT02885389
37 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
38 Natural History of Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
39 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy. Observational, Descriptive, Open-label, Multi-centric, Non-randomized Study Completed NCT02220114 Vigabatrin: Vigabatrin new ST formulation then Sabril®
40 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
41 Sabril Patient Registry Completed NCT01073579 Sabril®
42 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
43 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
44 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
45 Early Treatment of Infants at High Risk of Developing West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Active, not recruiting NCT01367964 adrenocorticotropin hormone
46 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
47 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
48 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
49 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
50 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iim

Cochrane evidence based reviews: spasms, infantile

Genetic Tests for Congenital Disorder of Glycosylation, Type Iim

Genetic tests related to Congenital Disorder of Glycosylation, Type Iim:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iim 29 SLC35A2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iim

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iim:

41
Brain, Cerebellum

Publications for Congenital Disorder of Glycosylation, Type Iim

Articles related to Congenital Disorder of Glycosylation, Type Iim:

# Title Authors PMID Year
1
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 8 71
24115232 2013
2
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 8 71
23561849 2013
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
5
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 38
27391121 2016

Variations for Congenital Disorder of Glycosylation, Type Iim

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Iim:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC35A2 NM_005660.3(SLC35A2): c.617_620del (p.Val206fs) deletion Pathogenic rs1057518719 X:48762566-48762569 X:48905289-48905292
2 SLC35A2 NM_005660.3(SLC35A2): c.426+287_775del deletion Pathogenic rs1557042824 X:48762411-48763382 X:48905137-48906108
3 SLC35A2 NM_005660.3(SLC35A2): c.348del (p.Val117fs) deletion Pathogenic rs1557043131 X:48763747-48763747 X:48906470-48906470
4 SLC35A2 NM_005660.3(SLC35A2): c.433_434del (p.Tyr145fs) deletion Pathogenic rs587777434 X:48762752-48762753 X:48905475-48905476
5 SLC35A2 NM_005660.3(SLC35A2): c.972del (p.Phe324fs) deletion Pathogenic rs587777435 X:48762214-48762214 X:48904937-48904937
6 SLC35A2 NM_005660.3(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 X:48762548-48762548 X:48905271-48905271
7 SLC35A2 NM_005660.3(SLC35A2): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic X:48767132-48767132 X:48909855-48909855
8 SLC35A2 NM_005660.3(SLC35A2): c.630_631TC[2] (p.Ser212fs) short repeat Pathogenic X:48762551-48762552 X:48905274-48905275
9 SLC35A2 NM_005660.3(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 X:48768911-48768911 X:48911634-48911634
10 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic rs1557044030 X:48768775-48768899 X:48911498-48911622
11 SLC35A2 NM_005660.3(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 X:48762195-48762195 X:48904918-48904918
12 SLC35A2 NM_005660.3(SLC35A2): c.2T> A (p.Met1Lys) single nucleotide variant Likely pathogenic X:48768912-48768912 X:48911635-48911635
13 SLC35A2 NM_005660.3(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 X:48762386-48762386 X:48905109-48905109
14 SLC35A2 NM_005660.3(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Likely pathogenic rs1557043622 X:48767120-48767120 X:48909843-48909843
15 SLC35A2 NM_005660.3(SLC35A2): c.1058_1063CCTCCG[1] (p.349_350AS[3]) short repeat Conflicting interpretations of pathogenicity rs782439562 X:48762117-48762122 X:48904840-48904845
16 SLC35A2 NM_005660.3(SLC35A2): c.523C> T (p.Leu175Phe) single nucleotide variant Uncertain significance X:48762663-48762663 X:48905386-48905386
17 SLC35A2 NM_005660.3(SLC35A2): c.619G> A (p.Val207Met) single nucleotide variant Uncertain significance X:48762567-48762567 X:48905290-48905290
18 SLC35A2 NM_005660.3(SLC35A2): c.485G> A (p.Arg162His) single nucleotide variant Uncertain significance X:48762701-48762701 X:48905424-48905424
19 SLC35A2 NM_005660.3(SLC35A2): c.1096G> A (p.Gly366Arg) single nucleotide variant Uncertain significance X:48762090-48762090 X:48904813-48904813
20 SLC35A2 NM_005660.3(SLC35A2): c.881A> G (p.Asn294Ser) single nucleotide variant Uncertain significance X:48762305-48762305 X:48905028-48905028
21 SLC35A2 NM_005660.3(SLC35A2): c.580C> A (p.Pro194Thr) single nucleotide variant Uncertain significance X:48762606-48762606 X:48905329-48905329
22 SLC35A2 NM_005660.3(SLC35A2): c.497G> A (p.Arg166Gln) single nucleotide variant Uncertain significance X:48762689-48762689 X:48905412-48905412
23 SLC35A2 NM_005660.3(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 X:48762228-48762228 X:48904951-48904951
24 SLC35A2 NM_005660.3(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 X:48767129-48767129 X:48909852-48909852
25 SLC35A2 NM_005660.3(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 X:48762651-48762651 X:48905374-48905374
26 SLC35A2 NM_005660.3(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 X:48767086-48767086 X:48909809-48909809
27 SLC35A2 NC_000023.10: g.(?_48755773)_(48935774_?)dup duplication Uncertain significance X:48755773-48935774 :0-0
28 SLC35A2 NC_000023.10: g.(?_48542223)_(48768933_?)dup duplication Uncertain significance X:48542223-48768933 :0-0
29 SLC35A2 NM_005660.3(SLC35A2): c.981C> T (p.Gly327=) single nucleotide variant Likely benign rs782603817 X:48762205-48762205 X:48904928-48904928
30 SLC35A2 NM_005660.3(SLC35A2): c.750C> G (p.Leu250=) single nucleotide variant Likely benign rs375311728 X:48762436-48762436 X:48905159-48905159
31 SLC35A2 NM_005660.3(SLC35A2): c.852G> T (p.Leu284=) single nucleotide variant Likely benign rs782161189 X:48762334-48762334 X:48905057-48905057
32 SLC35A2 NM_005660.3(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 X:48767263-48767263 X:48909986-48909986
33 SLC35A2 NM_005660.3(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 X:48768884-48768884 X:48911607-48911607
34 SLC35A2 NM_005660.3(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 X:48762244-48762244 X:48904967-48904967
35 SLC35A2 NM_001042498.2(SLC35A2): c.275-10_275-8delTCC deletion Likely benign rs1364325599 X:48763828-48763830 X:48906551-48906553
36 SLC35A2 NM_005660.3(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 X:48762439-48762439 X:48905162-48905162
37 SLC35A2 NM_005660.3(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign/Likely benign rs782793880 X:48768902-48768902 X:48911625-48911625
38 SLC35A2 NM_005660.3(SLC35A2): c.1078G> A (p.Val360Ile) single nucleotide variant Benign/Likely benign rs138190020 X:48762108-48762108 X:48904831-48904831
39 SLC35A2 NM_005660.3(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 X:48762196-48762196 X:48904919-48904919
40 SLC35A2 NM_005660.3(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 X:48762625-48762625 X:48905348-48905348
41 SLC35A2 NM_005660.3(SLC35A2): c.639C> T (p.Ser213=) single nucleotide variant Benign/Likely benign rs782301792 X:48762547-48762547 X:48905270-48905270
42 SLC35A2 NM_005660.3(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 X:48768871-48768871 X:48911594-48911594

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Iim:

74
# Symbol AA change Variation ID SNP ID
1 SLC35A2 p.Val331Ile VAR_069773 rs587776961
2 SLC35A2 p.Ser213Phe VAR_071699 rs587777436

Expression for Congenital Disorder of Glycosylation, Type Iim

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iim.

Pathways for Congenital Disorder of Glycosylation, Type Iim

Pathways related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 SLC35A1 B4GALT1 ALG9 ALG3
2
Show member pathways
12.14 SLC35A1 B4GALT1 ALG9 ALG3
3
Show member pathways
11.62 SLC35A1 ALG9 ALG3
5
Show member pathways
10.8 B4GALT1 ALG9 ALG3

GO Terms for Congenital Disorder of Glycosylation, Type Iim

Cellular components related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.55 SLC35A2 SLC35A1 B4GALT1 ALG9 ALG3
2 Golgi apparatus GO:0005794 9.43 SLC35A2 SLC35A1 B4GALT1
3 Golgi membrane GO:0000139 9.13 SLC35A2 SLC35A1 B4GALT1
4 integral component of Golgi membrane GO:0030173 8.62 SLC35A2 SLC35A1

Biological processes related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.43 B4GALT1 ALG9 ALG3
2 carbohydrate metabolic process GO:0005975 9.4 SLC35A1 B4GALT1
3 carbohydrate transport GO:0008643 9.37 SLC35A2 SLC35A1
4 mannosylation GO:0097502 9.32 ALG9 ALG3
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.16 ALG9 ALG3
6 galactose metabolic process GO:0006012 8.96 SLC35A2 B4GALT1
7 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 8.62 SLC35A2 SLC35A1

Molecular functions related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.13 B4GALT1 ALG9 ALG3
2 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 8.62 SLC35A2 SLC35A1

Sources for Congenital Disorder of Glycosylation, Type Iim

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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