CDG2M
MCID: CNG389
MIFTS: 49

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, Smell/Taste 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 56 52 71
Congenital Disorder of Glycosylation Type Iim 12 52 58 73 15
Slc35a2-Cdg 12 52 58 29 6
Cdg2m 56 52 58 73
Epileptic Encephalopathy, Early Infantile, 22 56 12 73
Congenital Disorder of Glycosylation Type 2m 12 52 58
Cdg-Iim 52 58 73
Epileptic Encephalopathy, Early Infantile, 22; Eiee22 56 52
Cdg Syndrome Type Iim 52 58
Cdg Iim 56 73
Cdgiim 56 73
Eiee22 56 73
Glycosylation, Congenital Disorder of, Type Iim 39
Congenital Disorder of Glycosylation, X-Linked 13
Congenital Disorder of Glycosylation X-Linked 73
Congenital Disorder of Glycosylation 2m 73
Cdg Iim; Cdgiim 56

Characteristics:

Orphanet epidemiological data:

58
slc35a2-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
congenital disorder of glycosylation, type iim:
Inheritance somatic mosaicism x-linked dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Congenital Disorder of Glycosylation, Type Iim

UniProtKB/Swiss-Prot : 73 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 disorders of n-linked glycosylation and multiple pathway and congenital disorder of glycosylation, type in, 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 and Metabolism of proteins. Affiliated tissues include brain, skin and eye, and related phenotypes are global developmental delay and hypsarrhythmia

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 : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 356961 Definition A 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 : 56 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 Iir 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 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 Congenital Disorder of Glycosylation, Type Iit

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 congenital disorders of n-linked glycosylation and multiple pathway 30.1 ALG3 ALG2 ALG1
2 congenital disorder of glycosylation, type in 26.2 SLC35A3 SLC35A2 SLC35A1 PGM1 MAN1B1 B4GALT1
3 slc35a2-congenital disorder of glycosylation 12.1
4 hypotonia 10.3
5 abnormal hair, joint laxity, and developmental delay 10.2
6 ataxia and polyneuropathy, adult-onset 10.2
7 cerebral atrophy 10.2
8 encephalopathy 10.2
9 fructose intolerance, hereditary 9.7 MAN1B1 B4GALT1 ALG2
10 schneckenbecken dysplasia 9.7 SLC35A3 SLC35A1
11 congenital disorder of glycosylation, type iin 9.7 SLC35A3 PGM1
12 congenital disorder of glycosylation, type iig 9.7 ALG9 ALG2
13 congenital disorder of glycosylation, type iid 9.7 SLC35A1 B4GALT1 ALG2
14 congenital disorder of glycosylation, type iik 9.6 PGM1 MAN1B1 ALG2
15 congenital disorder of glycosylation, type iio 9.5 MAN1B1 ALG9 ALG2
16 galactosemia i 9.5 PGM1 ALG2
17 congenital disorder of glycosylation, type iii 9.4 ALG9 ALG3 ALG2
18 congenital disorder of glycosylation, type iih 9.4 ALG9 ALG3 ALG2
19 walker-warburg syndrome 9.2 SLC35A1 ALG3 ALG2 ALG1
20 congenital disorder of glycosylation, type iib 9.2 SLC35A1 MAN1B1 B4GALT1 ALG2 ALG1
21 congenital disorder of glycosylation, type iip 9.1 PGM1 MAN1B1 ALG9 ALG2
22 congenital disorder of glycosylation, type iia 9.0 SLC35A1 B4GALT1 ALG3 ALG2 ALG1
23 congenital disorder of glycosylation, type iif 8.9 SLC35A3 SLC35A1 MAN1B1 B4GALT1 ALG2 ALG1
24 immunodeficiency 47 7.7 SLC35A1 PGM1 MAN1B1 B4GALT1 ALG9 ALG3

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:

58 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hypsarrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002521
3 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
9 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
10 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
11 abnormality of the immune system 58 31 frequent (33%) Frequent (79-30%) HP:0002715
12 abnormality of the respiratory system 58 31 frequent (33%) Frequent (79-30%) HP:0002086
13 infantile spasms 58 31 frequent (33%) Frequent (79-30%) HP:0012469
14 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
15 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
16 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
17 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
18 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
19 decreased sialylation of o-linked protein glycosylation 58 31 frequent (33%) Frequent (79-30%) HP:0012363
20 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
21 decreased galactosylation of n-linked protein glycosylation 58 31 frequent (33%) Frequent (79-30%) HP:0012348
22 elevated brain n-acetyl aspartate level by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0025053
23 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
24 gastroesophageal reflux 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002020
25 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
26 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
27 thickened nuchal skin fold 58 31 occasional (7.5%) Occasional (29-5%) HP:0000474
28 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
29 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
30 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
31 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
32 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
33 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
34 paroxysmal involuntary eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0007704
35 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
36 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
37 hypopigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001010
38 short corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0200012
39 atrophy/degeneration affecting the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0007366
40 exotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000577
41 prenatal maternal abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002686
42 cerebral white matter atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012762
43 eeg with focal epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0011185
44 anisometropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012803
45 osteopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0000938
46 joint hypermobility 58 31 very rare (1%) Very rare (<4-1%) HP:0001382
47 tetralogy of fallot 58 31 very rare (1%) Very rare (<4-1%) HP:0001636
48 dandy-walker malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0001305
49 camptodactyly of finger 58 31 very rare (1%) Very rare (<4-1%) HP:0100490
50 abnormal renal morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0012210

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
delayed myelination
more
Head And Neck Eyes:
nystagmus
ocular flutter
thick eyebrows
retinitis pigmentosa

Immunology:
recurrent infections

Head And Neck Nose:
broad nasal bridge

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)

Head And Neck Head:
microcephaly

Head And Neck Mouth:
open mouth
thick lips

Muscle Soft Tissue:
hypotonia

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

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iim

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

# Genetic test Affiliating Genes
1 Slc35a2-Cdg 29 SLC35A2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iim

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

40
Brain, Skin, Eye, Bone, Cerebellum, Heart, Thyroid

Publications for Congenital Disorder of Glycosylation, Type Iim

Articles related to Congenital Disorder of Glycosylation, Type Iim:

(show all 17)
# Title Authors PMID Year
1
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 6 56
24115232 2013
2
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 6 56
23561849 2013
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
5
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. 61
32103184 2020
6
Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. 61
32547898 2020
7
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. 61
31677975 2019
8
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 61
30817854 2019
9
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. 61
30746764 2019
10
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. 61
29869806 2018
11
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. 61
29907092 2018
12
Congenital disorders of glycosylation: The Saudi experience. 61
28742265 2017
13
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 61
27391121 2016
14
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. 61
26307094 2015
15
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. 61
25778940 2015
16
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 61
25192513 2014
17
Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. 61
23928051 2013

Variations for Congenital Disorder of Glycosylation, Type Iim

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

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC35A2 NM_005660.3(SLC35A2):c.426+287_775deldeletion Pathogenic 412239 rs1557042824 X:48762411-48763382 X:48905134-48906105
2 SLC35A2 NM_005660.3(SLC35A2):c.348del (p.Val117fs)deletion Pathogenic 541105 rs1557043131 X:48763747-48763747 X:48906470-48906470
3 SLC35A2 NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg)SNV Pathogenic 586961 rs1569511572 X:48767132-48767132 X:48909855-48909855
4 SLC35A2 NM_005660.3(SLC35A2):c.630_631TC[2] (p.Ser212fs)short repeat Pathogenic 635117 X:48762551-48762552 X:48905274-48905275
5 SLC35A2 NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs)deletion Pathogenic 857712 X:48762238-48762239 X:48904961-48904962
6 SLC35A2 NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs)deletion Pathogenic 847377 X:48762343-48762349 X:48905066-48905072
7 SLC35A2 NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)SNV Pathogenic 50365 rs587776962 X:48768911-48768911 X:48911634-48911634
8 SLC35A2 NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs)deletion Pathogenic 135674 rs587777434 X:48762752-48762753 X:48905475-48905476
9 SLC35A2 NM_005660.3(SLC35A2):c.972del (p.Phe324fs)deletion Pathogenic 135675 rs587777435 X:48762214-48762214 X:48904937-48904937
10 SLC35A2 NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe)SNV Pathogenic 135676 rs587777436 X:48762548-48762548 X:48905271-48905271
11 SLC35A2 SLC35A2:c.15_91+48delinsAindel Pathogenic 50363 rs1557044030 X:48768775-48768899 X:48911498-48911622
12 SLC35A2 NM_005660.3(SLC35A2):c.617_620del (p.Val206fs)deletion Pathogenic 374354 rs1057518719 X:48762566-48762569 X:48905289-48905292
13 SLC35A2 NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)SNV Likely pathogenic 50364 rs587776961 X:48762195-48762195 X:48904918-48904918
14 SLC35A2 NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys)SNV Likely pathogenic 224808 rs869312860 X:48762386-48762386 X:48905109-48905109
15 SLC35A2 NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro)SNV Likely pathogenic 813734 X:48762671-48762671 X:48905394-48905394
16 SLC35A2 NM_005660.3(SLC35A2):c.2T>A (p.Met1Lys)SNV Likely pathogenic 664868 X:48768912-48768912 X:48911635-48911635
17 SLC35A2 NM_005660.3(SLC35A2):c.520_522CTC[1] (p.Leu175del)short repeat Likely pathogenic 803994 X:48762661-48762663 X:48905384-48905386
18 SLC35A2 NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe)deletion Likely pathogenic 803995 X:48763704-48763706 X:48906427-48906429
19 SLC35A2 NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro)SNV Likely pathogenic 803996 X:48767237-48767237 X:48909960-48909960
20 SLC35A2 NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe)SNV Likely pathogenic 453301 rs1557043622 X:48767120-48767120 X:48909843-48909843
21 SLC35A2 NM_005660.3(SLC35A2):c.274+5G>ASNV Conflicting interpretations of pathogenicity 412238 rs1060503677 X:48767086-48767086 X:48909809-48909809
22 SLC35A2 NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)SNV Conflicting interpretations of pathogenicity 810587 X:48762368-48762368 X:48905091-48905091
23 SLC35A2 NM_005660.3(SLC35A2):c.828C>T (p.Leu276=)SNV Conflicting interpretations of pathogenicity 695729 X:48762358-48762358 X:48905081-48905081
24 SLC35A2 NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)SNV Uncertain significance 638482 X:48762701-48762701 X:48905424-48905424
25 SLC35A2 NM_005660.3(SLC35A2):c.578G>A (p.Arg193Gln)SNV Uncertain significance 810588 X:48762608-48762608 X:48905331-48905331
26 SLC35A2 NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser)SNV Uncertain significance 646442 X:48762305-48762305 X:48905028-48905028
27 SLC35A2 NM_005660.3(SLC35A2):c.580C>A (p.Pro194Thr)SNV Uncertain significance 642753 X:48762606-48762606 X:48905329-48905329
28 SLC35A2 NM_005660.3(SLC35A2):c.497G>A (p.Arg166Gln)SNV Uncertain significance 647909 X:48762689-48762689 X:48905412-48905412
29 SLC35A2 NC_000023.10:g.(?_48755773)_(48935774_?)dupduplication Uncertain significance 541111 X:48755773-48935774
30 SLC35A2 NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)SNV Uncertain significance 570350 rs1283637638 X:48762663-48762663 X:48905386-48905386
31 SLC35A2 NM_005660.3(SLC35A2):c.619G>A (p.Val207Met)SNV Uncertain significance 565608 rs782078023 X:48762567-48762567 X:48905290-48905290
32 SLC35A2 NC_000023.10:g.(?_48542223)_(48768933_?)dupduplication Uncertain significance 541110 X:48542223-48768933
33 SLC35A2 NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)SNV Uncertain significance 474049 rs140079332 X:48762228-48762228 X:48904951-48904951
34 SLC35A2 NM_005660.3(SLC35A2):c.535G>A (p.Val179Ile)SNV Uncertain significance 412237 rs1060503676 X:48762651-48762651 X:48905374-48905374
35 SLC35A2 NM_005660.3(SLC35A2):c.236G>T (p.Gly79Val)SNV Uncertain significance 392307 rs1057524438 X:48767129-48767129 X:48909852-48909852
36 SLC35A2 NM_005660.3(SLC35A2):c.35C>G (p.Ala12Gly)SNV Uncertain significance 837111 X:48768879-48768879 X:48911602-48911602
37 SLC35A2 NM_005660.3(SLC35A2):c.1096G>T (p.Gly366Trp)SNV Uncertain significance 864444 X:48762090-48762090 X:48904813-48904813
38 SLC35A2 NM_005660.3(SLC35A2):c.1050_1055TGCCTC[1] (p.349_350AS[3])short repeat Uncertain significance 859585 X:48762125-48762130 X:48904848-48904853
39 SLC35A2 NM_005660.3(SLC35A2):c.700C>T (p.Arg234Cys)SNV Uncertain significance 863795 X:48762486-48762486 X:48905209-48905209
40 SLC35A2 NM_005660.3(SLC35A2):c.74C>T (p.Pro25Leu)SNV Uncertain significance 860617 X:48768840-48768840 X:48911563-48911563
41 SLC35A2 NM_005660.3(SLC35A2):c.8C>T (p.Ala3Val)SNV Uncertain significance 843778 X:48768906-48768906 X:48911629-48911629
42 SLC35A2 NM_005660.3(SLC35A2):c.275-9C>ASNV Uncertain significance 863740 X:48763829-48763829 X:48906552-48906552
43 SLC35A2 NM_005660.3(SLC35A2):c.169G>A (p.Ala57Thr)SNV Uncertain significance 589119 rs151120284 X:48767196-48767196 X:48909919-48909919
44 SLC35A2 NM_005660.3(SLC35A2):c.747G>A (p.Gly249=)SNV Likely benign 238267 rs144809041 X:48762439-48762439 X:48905162-48905162
45 SLC35A2 NM_005660.3(SLC35A2):c.30C>G (p.Thr10=)SNV Likely benign 474047 rs373480204 X:48768884-48768884 X:48911607-48911607
46 SLC35A2 NM_005660.3(SLC35A2):c.942C>T (p.Arg314=)SNV Likely benign 474048 rs143797243 X:48762244-48762244 X:48904967-48904967
47 SLC35A2 NM_005660.3(SLC35A2):c.275-16TCC[2]short repeat Likely benign 474046 rs1364325599 X:48763828-48763830 X:48906551-48906553
48 SLC35A2 NM_005660.3(SLC35A2):c.750C>G (p.Leu250=)SNV Likely benign 541107 rs375311728 X:48762436-48762436 X:48905159-48905159
49 SLC35A2 NM_005660.3(SLC35A2):c.852G>T (p.Leu284=)SNV Likely benign 541106 rs782161189 X:48762334-48762334 X:48905057-48905057
50 SLC35A2 NM_005660.3(SLC35A2):c.253C>T (p.Leu85=)SNV Likely benign 757913 X:48767112-48767112 X:48909835-48909835

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

73
# 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
13.56 PGM1 MAN1B1 B4GALT1 ALG9 ALG3 ALG2
2
Show member pathways
13.29 SLC35A1 MAN1B1 B4GALT1 ALG9 ALG3 ALG2
3
Show member pathways
12.39 SLC35A1 MAN1B1 B4GALT1 ALG9 ALG3 ALG2
4
Show member pathways
11.84 SLC35A1 ALG9 ALG3 ALG2 ALG1
6
Show member pathways
11.1 MAN1B1 B4GALT1 ALG9 ALG3 ALG2 ALG1

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 membrane GO:0016020 10.06 SLC35A3 SLC35A2 SLC35A1 MAN1B1 B4GALT1 ALG9
2 endoplasmic reticulum GO:0005783 9.77 SLC35A2 MAN1B1 ALG9 ALG3 ALG1
3 Golgi apparatus GO:0005794 9.72 SLC35A3 SLC35A2 SLC35A1 MAN1B1 B4GALT1
4 integral component of membrane GO:0016021 9.61 SLC35A3 SLC35A2 SLC35A1 MAN1B1 B4GALT1 ALG9
5 Golgi membrane GO:0000139 9.56 SLC35A3 SLC35A2 SLC35A1 B4GALT1
6 endoplasmic reticulum membrane GO:0005789 9.55 MAN1B1 ALG9 ALG3 ALG2 ALG1
7 integral component of Golgi membrane GO:0030173 8.8 SLC35A3 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 carbohydrate metabolic process GO:0005975 9.61 SLC35A1 PGM1 B4GALT1
2 carbohydrate transport GO:0008643 9.54 SLC35A3 SLC35A2 SLC35A1
3 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 9.5 SLC35A3 SLC35A2 SLC35A1
4 protein N-linked glycosylation GO:0006487 9.46 B4GALT1 ALG9
5 mannosylation GO:0097502 9.46 ALG9 ALG3 ALG2 ALG1
6 UDP-galactose transmembrane transport GO:0072334 9.43 SLC35A3 SLC35A2 SLC35A1
7 protein glycosylation GO:0006486 9.43 MAN1B1 B4GALT1 ALG9 ALG3 ALG2 ALG1
8 galactose metabolic process GO:0006012 9.4 SLC35A2 B4GALT1
9 dolichol-linked oligosaccharide biosynthetic process GO:0006488 8.92 ALG9 ALG3 ALG2 ALG1

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 GO:0016740 9.8 B4GALT1 ALG9 ALG3 ALG2 ALG1
2 transferase activity, transferring glycosyl groups GO:0016757 9.55 B4GALT1 ALG9 ALG3 ALG2 ALG1
3 mannosyltransferase activity GO:0000030 9.43 ALG9 ALG3 ALG1
4 sialic acid transmembrane transporter activity GO:0015136 9.37 SLC35A2 SLC35A1
5 alpha-1,3-mannosyltransferase activity GO:0000033 9.32 ALG3 ALG2
6 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 9.13 SLC35A3 SLC35A2 SLC35A1
7 UDP-galactose transmembrane transporter activity GO:0005459 8.8 SLC35A3 SLC35A2 SLC35A1

Sources for Congenital Disorder of Glycosylation, Type Iim

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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