MCID: CNG389
MIFTS: 27

Congenital Disorder of Glycosylation, Type Iim

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 29 6 73
Cdg2m 57 59 75
Epileptic Encephalopathy, Early Infantile, 22 57 75
Congenital Disorder of Glycosylation Type Iim 59 75
Cdg Iim 57 75
Cdg-Iim 59 75
Cdgiim 57 75
Eiee22 57 75
Epileptic Encephalopathy, Early Infantile, 22; Eiee22 57
Glycosylation, Congenital Disorder of, Type Iim 40
Congenital Disorder of Glycosylation, X-Linked 13
Congenital Disorder of Glycosylation X-Linked 75
Congenital Disorder of Glycosylation Type 2m 59
Congenital Disorder of Glycosylation 2m 75
Cdg Syndrome Type Iim 59
Cdg Iim; Cdgiim 57
Slc35a2-Cdg 59

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:



Summaries for Congenital Disorder of Glycosylation, Type Iim

UniProtKB/Swiss-Prot : 75 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 cdg2m, is related to slc35a2-cdg, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iim is SLC35A2 (Solute Carrier Family 35 Member A2). Affiliated tissues include brain and cerebellum, and related phenotypes are nystagmus and seizures

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 Congenital Disorder of Glycosylation, Type in 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 Iq
Congenital Disorder of Glycosylation, Type Io 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:

# Related Disease Score Top Affiliating Genes
1 slc35a2-cdg 11.5

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iim

Symptoms via clinical synopsis from OMIM:

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

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
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
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

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

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

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 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

Variations for Congenital Disorder of Glycosylation, Type Iim

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

75
# Symbol AA change Variation ID SNP ID
1 SLC35A2 p.Val331Ile VAR_069773 rs587776961
2 SLC35A2 p.Ser213Phe VAR_071699 rs587777436

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

6
(show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic GRCh37 Chromosome X, 48768775: 48768899
2 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic GRCh38 Chromosome X, 48911498: 48911622
3 SLC35A2 NM_001042498.2(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 GRCh37 Chromosome X, 48762195: 48762195
4 SLC35A2 NM_001042498.2(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 GRCh38 Chromosome X, 48904918: 48904918
5 SLC35A2 NM_001042498.2(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 GRCh37 Chromosome X, 48768911: 48768911
6 SLC35A2 NM_001042498.2(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 GRCh38 Chromosome X, 48911634: 48911634
7 SLC35A2 NM_001042498.2(SLC35A2): c.433_434delTA (p.Tyr145Profs) deletion Pathogenic rs587777434 GRCh37 Chromosome X, 48762752: 48762753
8 SLC35A2 NM_001042498.2(SLC35A2): c.433_434delTA (p.Tyr145Profs) deletion Pathogenic rs587777434 GRCh38 Chromosome X, 48905475: 48905476
9 SLC35A2 NM_001042498.2(SLC35A2): c.972delT (p.Phe324Leufs) deletion Pathogenic rs587777435 GRCh37 Chromosome X, 48762214: 48762214
10 SLC35A2 NM_001042498.2(SLC35A2): c.972delT (p.Phe324Leufs) deletion Pathogenic rs587777435 GRCh38 Chromosome X, 48904937: 48904937
11 SLC35A2 NM_001042498.2(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 GRCh37 Chromosome X, 48762548: 48762548
12 SLC35A2 NM_001042498.2(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 GRCh38 Chromosome X, 48905271: 48905271
13 SLC35A2 NM_005660.2(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 GRCh38 Chromosome X, 48905109: 48905109
14 SLC35A2 NM_005660.2(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 GRCh37 Chromosome X, 48762386: 48762386
15 SLC35A2 NM_001042498.2(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 GRCh38 Chromosome X, 48905162: 48905162
16 SLC35A2 NM_001042498.2(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 GRCh37 Chromosome X, 48762439: 48762439
17 SLC35A2 NM_001042498.2(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign rs782793880 GRCh37 Chromosome X, 48768902: 48768902
18 SLC35A2 NM_001042498.2(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign rs782793880 GRCh38 Chromosome X, 48911625: 48911625
19 SLC35A2 NM_005660.2(SLC35A2): c.617_620delTCGT (p.Val206Glyfs) deletion Pathogenic rs1057518719 GRCh37 Chromosome X, 48762566: 48762569
20 SLC35A2 NM_005660.2(SLC35A2): c.617_620delTCGT (p.Val206Glyfs) deletion Pathogenic rs1057518719 GRCh38 Chromosome X, 48905289: 48905292
21 SLC35A2 NM_001042498.2(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 GRCh37 Chromosome X, 48762625: 48762625
22 SLC35A2 NM_001042498.2(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 GRCh38 Chromosome X, 48905348: 48905348
23 SLC35A2 NM_001042498.2(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 GRCh37 Chromosome X, 48768871: 48768871
24 SLC35A2 NM_001042498.2(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 GRCh38 Chromosome X, 48911594: 48911594
25 SLC35A2 NM_001042498.2(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 GRCh37 Chromosome X, 48762196: 48762196
26 SLC35A2 NM_001042498.2(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 GRCh38 Chromosome X, 48904919: 48904919
27 SLC35A2 NM_001042498.2(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 GRCh37 Chromosome X, 48767129: 48767129
28 SLC35A2 NM_001042498.2(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 GRCh38 Chromosome X, 48909852: 48909852
29 SLC35A2 NM_001042498.2(SLC35A2): c.1064_1069delCCTCCG (p.Ala355_Ser356del) deletion Conflicting interpretations of pathogenicity rs782439562 GRCh37 Chromosome X, 48762117: 48762122
30 SLC35A2 NM_001042498.2(SLC35A2): c.1064_1069delCCTCCG (p.Ala355_Ser356del) deletion Conflicting interpretations of pathogenicity rs782439562 GRCh38 Chromosome X, 48904840: 48904845
31 SLC35A2 NM_001042498.2(SLC35A2): c.426+287_775del deletion Pathogenic GRCh37 Chromosome X, 48762411: 48763382
32 SLC35A2 NM_001042498.2(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 GRCh38 Chromosome X, 48905374: 48905374
33 SLC35A2 NM_001042498.2(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 GRCh37 Chromosome X, 48762651: 48762651
34 SLC35A2 NM_001042498.2(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 GRCh37 Chromosome X, 48767086: 48767086
35 SLC35A2 NM_001042498.2(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 GRCh38 Chromosome X, 48909809: 48909809
36 SLC35A2 NM_005660.2(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48909843: 48909843
37 SLC35A2 NM_005660.2(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48767120: 48767120
38 SLC35A2 NM_001042498.2(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 GRCh37 Chromosome X, 48762228: 48762228
39 SLC35A2 NM_001042498.2(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 GRCh38 Chromosome X, 48904951: 48904951
40 SLC35A2 NM_001042498.2(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 GRCh38 Chromosome X, 48909986: 48909986
41 SLC35A2 NM_001042498.2(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 GRCh37 Chromosome X, 48767263: 48767263
42 SLC35A2 NM_001042498.2(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 GRCh38 Chromosome X, 48911607: 48911607
43 SLC35A2 NM_001042498.2(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 GRCh37 Chromosome X, 48768884: 48768884
44 SLC35A2 NM_001042498.2(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 GRCh38 Chromosome X, 48904967: 48904967
45 SLC35A2 NM_001042498.2(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 GRCh37 Chromosome X, 48762244: 48762244
46 SLC35A2 NM_001042498.2(SLC35A2): c.275-10_275-8delTCC deletion Likely benign GRCh38 Chromosome X, 48906551: 48906553
47 SLC35A2 NM_001042498.2(SLC35A2): c.275-10_275-8delTCC deletion Likely benign GRCh37 Chromosome X, 48763828: 48763830
48 SLC35A2 NM_001042498.2(SLC35A2): c.1078G> A (p.Val360Ile) single nucleotide variant Benign/Likely benign rs138190020 GRCh37 Chromosome X, 48762108: 48762108
49 SLC35A2 NM_001042498.2(SLC35A2): c.1078G> A (p.Val360Ile) single nucleotide variant Benign/Likely benign rs138190020 GRCh38 Chromosome X, 48904831: 48904831
50 SLC35A2 NC_000023.10: g.(?_48755773)_(48935774_?)dup duplication Uncertain significance GRCh37 Chromosome X, 48755773: 48935774

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

GO Terms for Congenital Disorder of Glycosylation, Type Iim

Sources for Congenital Disorder of Glycosylation, Type Iim

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