MCID: CNG208
MIFTS: 42

Congenital Disorder of Glycosylation, Type Iic

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iic

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

Name: Congenital Disorder of Glycosylation, Type Iic 57 13
Cdg2c 57 59 75
Congenital Disorder of Glycosylation Type 2c 29 6
Leukocyte Adhesion Deficiency, Type Ii 57 55
Leukocyte Adhesion Deficiency Type Ii 59 75
Rambam-Hasharon Syndrome 57 59
Cdg Iic 57 75
Cdg-Iic 59 75
Cdgiic 57 75
Lad2 57 75
Glycosylation, Congenital Disorder of, Type Iic 40
Congenital Disorder of Glycosylation Type Iic 75
Congenital Disorder of Glycosylation, Type 2c 73
Leukocyte Adhesion Deficiency, Type Ii; Lad2 57
Congenital Disorder of Glycosylation 2c 75
Rambam-Hasharon Syndrome; Rhs 57
Rambam Hasharon Syndrome 76
Cdg Syndrome Type Iic 59
Cdg Iic; Cdgiic 57
Lad-Ii 59
Rhs 57

Characteristics:

Orphanet epidemiological data:

59
leukocyte adhesion deficiency type ii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
frequency of infections decreases after 3 years of age


HPO:

32
congenital disorder of glycosylation, type iic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iic

OMIM : 57 Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996). Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. (266265)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iic, also known as cdg2c, is related to rh-null, regulator type and rh-null, amorph type, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iic is SLC35C1 (Solute Carrier Family 35 Member C1), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include neutrophil, lung and endothelial, and related phenotypes are muscular hypotonia and coarse facial features

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 2C: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. 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. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.

Wikipedia : 76 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Related Diseases for Congenital Disorder of Glycosylation, Type Iic

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 Iic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 rh-null, regulator type 12.4
2 rh-null, amorph type 12.3
3 rh isoimmunization 12.2
4 retinohepatoendocrinologic syndrome 12.1
5 hydrops fetalis 11.3
6 reticulohistiocytic granuloma 11.2
7 kernicterus 11.2
8 rapp-hodgkin syndrome 11.1
9 stomatocytosis i 11.0
10 tricuspid valve disease 10.9
11 mitral valve disease 10.9
12 blood group--kell system 10.9
13 ramsay hunt syndrome i 10.9
14 prostate cancer 10.7
15 bombay phenotype 10.2
16 leukocyte adhesion deficiency, type i 10.2
17 prostatitis 10.2
18 neuroblastoma 10.1
19 congenital disorder of glycosylation, type in 10.1
20 leukemia 9.9
21 placenta disease 9.9
22 chromophobe renal cell carcinoma 9.9
23 respiratory syncytial virus infectious disease 9.9
24 breast cancer 9.9
25 purpura 9.9
26 sickle cell disease 9.9
27 myelodysplastic syndrome 9.8
28 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
29 hepatitis 9.8
30 hypokalemia 9.8
31 fetal edema 9.8
32 lung cancer 9.8
33 hemolytic anemia 9.8
34 metabolic acidosis 9.8
35 hereditary spherocytosis 9.8
36 oligospermia 9.8
37 pancreatitis 9.8
38 toxoplasmosis 9.8
39 small cell cancer of the lung 9.7
40 autism 9.7
41 pancreatic cancer 9.7
42 tick-borne encephalitis 9.7
43 thrombosis 9.7
44 disseminated intravascular coagulation 9.7
45 herpes gestationis 9.7
46 pneumothorax 9.7
47 endometriosis 9.7
48 infertility 9.7
49 oral submucous fibrosis 9.7
50 hemoglobinuria 9.7

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



Diseases related to Congenital Disorder of Glycosylation, Type Iic

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iic

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
severe mental retardation
cortical atrophy

Growth Height:
short stature

Head And Neck Ears:
otitis media

Muscle Soft Tissue:
hypotonia
localized cellulitis

Hematology:
bombay (hh) blood phenotype
red blood cells lack h- antigen
lewis a- and b- negative cells

Laboratory Abnormalities:
neutrophilia, both basal and during infections

Head And Neck Head:
microcephaly

Head And Neck Mouth:
periodontitis

Respiratory Lung:
pneumonia

Skin Nails Hair Skin:
localized cellulitis

Immunology:
markedly reduced neutrophil motility
slightly reduced neutrophil adherence
absent sialyl-lewis x ligand (slex) expression
absence of pus formation at site of infection


Clinical features from OMIM:

266265

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

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 coarse facial features 32 very rare (1%) HP:0000280
3 global developmental delay 32 very rare (1%) HP:0001263
4 microcephaly 32 HP:0000252
5 short stature 32 very rare (1%) HP:0004322
6 intellectual disability, severe 32 HP:0010864
7 abnormality of metabolism/homeostasis 32 HP:0001939
8 short foot 32 very rare (1%) HP:0001773
9 autism 32 very rare (1%) HP:0000717
10 recurrent otitis media 32 very rare (1%) HP:0000403
11 anxiety 32 very rare (1%) HP:0000739
12 cerebral cortical atrophy 32 HP:0002120
13 intellectual disability, progressive 32 HP:0006887
14 febrile seizures 32 very rare (1%) HP:0002373
15 brachydactyly 32 very rare (1%) HP:0001156
16 bulbous nose 32 HP:0000414
17 periodontitis 32 HP:0000704
18 obsessive-compulsive behavior 32 very rare (1%) HP:0000722
19 pneumonia 32 HP:0002090
20 generalized hypotonia 32 HP:0001290
21 echolalia 32 very rare (1%) HP:0010529
22 widow's peak 32 very rare (1%) HP:0000349
23 bronchiolitis 32 very rare (1%) HP:0011950
24 abnormality of the integument 32 HP:0001574
25 reduction of neutrophil motility 32 HP:0005400

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


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Impact of Lung Cancer-derived Fibroblasts on Mast Cells Activation Completed NCT02161523

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iic

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2c 29 SLC35C1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iic

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

41
Neutrophil, Lung, Endothelial

Publications for Congenital Disorder of Glycosylation, Type Iic

Articles related to Congenital Disorder of Glycosylation, Type Iic:

(show all 12)
# Title Authors Year
1
A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. ( 25239688 )
2014
2
Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. ( 20099014 )
2010
3
Secretory cell hyperplasia and defects in Notch activity in a mouse model of leukocyte adhesion deficiency type II. ( 19900444 )
2010
4
Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc). ( 12738772 )
2003
5
Fucose supplementation in leukocyte adhesion deficiency type II. ( 10877554 )
2000
6
Leukocyte adhesion deficiency type II. ( 10571012 )
1999
7
Correction of leukocyte adhesion deficiency type II with oral fucose. ( 10590041 )
1999
8
Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome. ( 9662431 )
1998
9
Leukocyte adhesion deficiency type II: long-term follow-up. ( 9723680 )
1998
10
Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonlymphoid endothelium. ( 9616215 )
1998
11
Antigen-specific immune responsiveness and lymphocyte recruitment in leukocyte adhesion deficiency type II. ( 9138022 )
1997
12
In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II. ( 8068953 )
1994

Variations for Congenital Disorder of Glycosylation, Type Iic

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

75
# Symbol AA change Variation ID SNP ID
1 SLC35C1 p.Arg147Cys VAR_012347 rs28939087
2 SLC35C1 p.Thr308Arg VAR_012348 rs28937886

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

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35C1 NM_018389.4(SLC35C1): c.439C> T (p.Arg147Cys) single nucleotide variant Pathogenic rs28939087 GRCh37 Chromosome 11, 45827791: 45827791
2 SLC35C1 NM_018389.4(SLC35C1): c.439C> T (p.Arg147Cys) single nucleotide variant Pathogenic rs28939087 GRCh38 Chromosome 11, 45806240: 45806240
3 SLC35C1 NM_018389.4(SLC35C1): c.923C> G (p.Thr308Arg) single nucleotide variant Pathogenic rs28937886 GRCh37 Chromosome 11, 45832714: 45832714
4 SLC35C1 NM_018389.4(SLC35C1): c.923C> G (p.Thr308Arg) single nucleotide variant Pathogenic rs28937886 GRCh38 Chromosome 11, 45811163: 45811163
5 SLC35C1 NM_018389.4(SLC35C1): c.91G> T (p.Glu31Ter) single nucleotide variant Pathogenic rs398124345 GRCh37 Chromosome 11, 45827443: 45827443
6 SLC35C1 NM_018389.4(SLC35C1): c.91G> T (p.Glu31Ter) single nucleotide variant Pathogenic rs398124345 GRCh38 Chromosome 11, 45805892: 45805892
7 SLC35C1 NM_018389.4(SLC35C1): c.872C> T (p.Thr291Ile) single nucleotide variant Likely pathogenic rs751828447 GRCh38 Chromosome 11, 45811112: 45811112
8 SLC35C1 NM_018389.4(SLC35C1): c.872C> T (p.Thr291Ile) single nucleotide variant Likely pathogenic rs751828447 GRCh37 Chromosome 11, 45832663: 45832663
9 SLC35C1 NM_018389.4(SLC35C1): c.1054C> T (p.Pro352Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145613857 GRCh38 Chromosome 11, 45811294: 45811294
10 SLC35C1 NM_018389.4(SLC35C1): c.1054C> T (p.Pro352Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145613857 GRCh37 Chromosome 11, 45832845: 45832845
11 SLC35C1 NM_018389.4(SLC35C1): c.522C> T (p.Cys174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141379070 GRCh37 Chromosome 11, 45827874: 45827874
12 SLC35C1 NM_018389.4(SLC35C1): c.522C> T (p.Cys174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141379070 GRCh38 Chromosome 11, 45806323: 45806323
13 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 GRCh37 Chromosome 11, 45832838: 45832838
14 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 GRCh38 Chromosome 11, 45811287: 45811287
15 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 GRCh37 Chromosome 11, 45832463: 45832463
16 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 GRCh38 Chromosome 11, 45810912: 45810912
17 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 GRCh38 Chromosome 11, 45806113: 45806113
18 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 GRCh37 Chromosome 11, 45827664: 45827664
19 SLC35C1 NM_001145266.1(SLC35C1): c.962C> A (p.Ser321Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 45811241: 45811241
20 SLC35C1 NM_001145266.1(SLC35C1): c.962C> A (p.Ser321Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 45832792: 45832792
21 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 GRCh37 Chromosome 11, 45832766: 45832766
22 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 GRCh38 Chromosome 11, 45811215: 45811215
23 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 GRCh37 Chromosome 11, 45832376: 45832376
24 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 GRCh38 Chromosome 11, 45810825: 45810825
25 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 GRCh38 Chromosome 11, 45810838: 45810838
26 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 GRCh37 Chromosome 11, 45832389: 45832389
27 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 GRCh37 Chromosome 11, 45832694: 45832694
28 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 GRCh38 Chromosome 11, 45811143: 45811143
29 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 GRCh37 Chromosome 11, 45827468: 45827468
30 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 GRCh38 Chromosome 11, 45805917: 45805917
31 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45827472: 45827472
32 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45805921: 45805921
33 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 GRCh37 Chromosome 11, 45832436: 45832436
34 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 GRCh38 Chromosome 11, 45810885: 45810885
35 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 GRCh38 Chromosome 11, 45806335: 45806335
36 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 GRCh37 Chromosome 11, 45827886: 45827886
37 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 GRCh38 Chromosome 11, 45811080: 45811080
38 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 GRCh37 Chromosome 11, 45832631: 45832631

Expression for Congenital Disorder of Glycosylation, Type Iic

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

GO Terms for Congenital Disorder of Glycosylation, Type Iic

Sources for Congenital Disorder of Glycosylation, Type Iic

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
Content
Loading form....