CDG2C
MCID: CNG208
MIFTS: 52

Congenital Disorder of Glycosylation, Type Iic (CDG2C)

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 Iic

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

Name: Congenital Disorder of Glycosylation, Type Iic 58 13
Cdg2c 58 12 60 76
Congenital Disorder of Glycosylation Type Iic 12 76 15
Rambam-Hasharon Syndrome 58 12 60
Cdg Iic 58 12 76
Cdgiic 58 12 76
Congenital Disorder of Glycosylation Type 2c 30 6
Leukocyte Adhesion Deficiency, Type Ii 58 56
Leukocyte Adhesion Deficiency Type Ii 60 76
Cdg-Iic 60 76
Lad2 58 76
Glycosylation, Congenital Disorder of, Type Iic 41
Congenital Disorder of Glycosylation, Type 2c 74
Leukocyte Adhesion Deficiency, Type Ii; Lad2 58
Congenital Disorder of Glycosylation 2c 76
Leukocyte Adhesion Deficiency 2 12
Rambam-Hasharon Syndrome; Rhs 58
Rambam Hasharon Syndrome 77
Cdg Syndrome Type Iic 60
Cdg Iic; Cdgiic 58
Lad-Ii 60
Rhs 58

Characteristics:

Orphanet epidemiological data:

60
leukocyte adhesion deficiency type ii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
frequency of infections decreases after 3 years of age


HPO:

33
congenital disorder of glycosylation, type iic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iic

OMIM : 58 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 bombay phenotype 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, bone and lung, and related phenotypes are coarse facial features and global developmental delay

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2.

UniProtKB/Swiss-Prot : 76 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 : 77 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 Ii 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 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 Iic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 266)
# Related Disease Score Top Affiliating Genes
1 bombay phenotype 30.7 FUT1 FUT2
2 rh-null, amorph type 12.7
3 rh-null, regulator type 12.6
4 rh isoimmunization 12.4
5 retinohepatoendocrinologic syndrome 12.4
6 rapp-hodgkin syndrome 11.7
7 hydrops fetalis 11.5
8 stomatocytosis i 11.5
9 reticulohistiocytic granuloma 11.4
10 kernicterus 11.4
11 tricuspid valve disease 11.1
12 mitral valve disease 11.1
13 blood group--kell system 11.1
14 ramsay hunt syndrome i 11.1
15 prostate cancer 10.9
16 leukocyte adhesion deficiency, type i 10.4
17 amenorrhea 10.3
18 hypoxia 10.3
19 cryptorchidism, unilateral or bilateral 10.2
20 hypogonadism 10.2
21 hypogonadotropism 10.2
22 primary orthostatic tremor 10.2
23 blood group system, landsteiner-wiener 10.2
24 melnick-needles syndrome 10.2
25 pulmonary hypertension, primary, 3 10.2
26 precocious puberty 10.2
27 chromophobe renal cell carcinoma 10.2
28 respiratory syncytial virus infectious disease 10.2
29 triiodothyronine receptor auxiliary protein 10.1
30 epileptic encephalopathy, early infantile, 36 10.1 ALG2 SLC35C1
31 sickle cell disease 10.1
32 hemolytic anemia 10.1
33 leukemia 10.1
34 breast cancer 10.1
35 blood group, gerbich system 10.1
36 xanthogranulomatous cholecystitis 10.1
37 blood group, colton system 10.0
38 prostate cancer, hereditary, 8 10.0
39 prostate cancer, hereditary, 6 10.0
40 hepatitis 10.0
41 hypogonadotropic hypogonadism 10.0
42 purpura 10.0
43 lung cancer 10.0
44 polycythemia vera 10.0
45 lymphatic malformation 7 10.0
46 bilirubin metabolic disorder 10.0
47 toxoplasmosis 10.0
48 fetal edema 10.0
49 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.0 EGF NOTCH1
50 aortic valve insufficiency 10.0 FUT2 NOTCH1

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

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

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 33 very rare (1%) HP:0000280
2 global developmental delay 33 very rare (1%) HP:0001263
3 short stature 33 very rare (1%) HP:0004322
4 short foot 33 very rare (1%) HP:0001773
5 autism 33 very rare (1%) HP:0000717
6 recurrent otitis media 33 very rare (1%) HP:0000403
7 anxiety 33 very rare (1%) HP:0000739
8 febrile seizures 33 very rare (1%) HP:0002373
9 brachydactyly 33 very rare (1%) HP:0001156
10 obsessive-compulsive behavior 33 very rare (1%) HP:0000722
11 echolalia 33 very rare (1%) HP:0010529
12 widow's peak 33 very rare (1%) HP:0000349
13 bronchiolitis 33 very rare (1%) HP:0011950
14 muscular hypotonia 33 HP:0001252
15 microcephaly 33 HP:0000252
16 intellectual disability, severe 33 HP:0010864
17 abnormality of metabolism/homeostasis 33 HP:0001939
18 cerebral cortical atrophy 33 HP:0002120
19 intellectual disability, progressive 33 HP:0006887
20 bulbous nose 33 HP:0000414
21 periodontitis 33 HP:0000704
22 cellulitis 33 HP:0100658
23 pneumonia 33 HP:0002090
24 generalized hypotonia 33 HP:0001290
25 abnormality of the integument 33 HP:0001574
26 reduction of neutrophil motility 33 HP:0005400

Symptoms via clinical synopsis from OMIM:

58
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

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


seizures

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Iic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.61 EGF FUT2 FUT8 GMDS HP NOTCH1
2 respiratory system MP:0005388 9.02 FUT8 NOTCH1 POFUT1 SELP SLC35C1

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 30 SLC35C1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iic

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

42
Neutrophil, Bone, Lung, Prostate, Eye, Ovary, Breast

Publications for Congenital Disorder of Glycosylation, Type Iic

Articles related to Congenital Disorder of Glycosylation, Type Iic:

# Title Authors Year
1
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. ( 24403049 )
2014
2
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. ( 12116250 )
2002
3
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. ( 11326279 )
2001
4
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. ( 11326280 )
2001
5
Leukocyte adhesion deficiency II-from A to almost Z. ( 11213799 )
2000
6
Prenatal diagnosis of Rambam-Hasharon syndrome. ( 8710783 )
1996
7
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. ( 1488976 )
1992
8
Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. ( 1279426 )
1992

Variations for Congenital Disorder of Glycosylation, Type Iic

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

76
# 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 50)
# 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.503_505delTCT (p.Phe168del) deletion Conflicting interpretations of pathogenicity rs587777655 GRCh38 Chromosome 11, 45806304: 45806306
8 SLC35C1 NM_018389.4(SLC35C1): c.503_505delTCT (p.Phe168del) deletion Conflicting interpretations of pathogenicity rs587777655 GRCh37 Chromosome 11, 45827855: 45827857
9 SLC35C1 NM_018389.4(SLC35C1): c.872C> T (p.Thr291Ile) single nucleotide variant Likely pathogenic rs751828447 GRCh38 Chromosome 11, 45811112: 45811112
10 SLC35C1 NM_018389.4(SLC35C1): c.872C> T (p.Thr291Ile) single nucleotide variant Likely pathogenic rs751828447 GRCh37 Chromosome 11, 45832663: 45832663
11 SLC35C1 NM_018389.4(SLC35C1): c.1054C> T (p.Pro352Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145613857 GRCh38 Chromosome 11, 45811294: 45811294
12 SLC35C1 NM_018389.4(SLC35C1): c.1054C> T (p.Pro352Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145613857 GRCh37 Chromosome 11, 45832845: 45832845
13 SLC35C1 NM_018389.4(SLC35C1): c.522C> T (p.Cys174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141379070 GRCh38 Chromosome 11, 45806323: 45806323
14 SLC35C1 NM_018389.4(SLC35C1): c.522C> T (p.Cys174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141379070 GRCh37 Chromosome 11, 45827874: 45827874
15 SLC35C1 NM_018389.4(SLC35C1): c.1055C> A (p.Pro352His) single nucleotide variant Uncertain significance rs200843978 GRCh37 Chromosome 11, 45832846: 45832846
16 SLC35C1 NM_018389.4(SLC35C1): c.1055C> A (p.Pro352His) single nucleotide variant Uncertain significance rs200843978 GRCh38 Chromosome 11, 45811295: 45811295
17 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 GRCh37 Chromosome 11, 45832838: 45832838
18 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 GRCh38 Chromosome 11, 45811287: 45811287
19 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 GRCh38 Chromosome 11, 45810912: 45810912
20 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 GRCh37 Chromosome 11, 45832463: 45832463
21 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 GRCh38 Chromosome 11, 45806113: 45806113
22 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 GRCh37 Chromosome 11, 45827664: 45827664
23 SLC35C1 NM_001145266.1(SLC35C1): c.962C> A (p.Ser321Tyr) single nucleotide variant Likely pathogenic rs1554953926 GRCh38 Chromosome 11, 45811241: 45811241
24 SLC35C1 NM_001145266.1(SLC35C1): c.962C> A (p.Ser321Tyr) single nucleotide variant Likely pathogenic rs1554953926 GRCh37 Chromosome 11, 45832792: 45832792
25 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 GRCh37 Chromosome 11, 45832766: 45832766
26 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 GRCh38 Chromosome 11, 45811215: 45811215
27 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 GRCh37 Chromosome 11, 45832376: 45832376
28 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 GRCh38 Chromosome 11, 45810825: 45810825
29 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 GRCh37 Chromosome 11, 45832389: 45832389
30 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 GRCh38 Chromosome 11, 45810838: 45810838
31 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 GRCh37 Chromosome 11, 45832694: 45832694
32 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 GRCh38 Chromosome 11, 45811143: 45811143
33 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 GRCh37 Chromosome 11, 45827468: 45827468
34 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 GRCh38 Chromosome 11, 45805917: 45805917
35 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance rs1554953091 GRCh37 Chromosome 11, 45827472: 45827472
36 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance rs1554953091 GRCh38 Chromosome 11, 45805921: 45805921
37 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 GRCh37 Chromosome 11, 45832436: 45832436
38 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 GRCh38 Chromosome 11, 45810885: 45810885
39 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 GRCh38 Chromosome 11, 45806335: 45806335
40 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 GRCh37 Chromosome 11, 45827886: 45827886
41 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 GRCh38 Chromosome 11, 45811080: 45811080
42 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 GRCh37 Chromosome 11, 45832631: 45832631
43 SLC35C1 NM_018389.4(SLC35C1): c.679A> G (p.Ile227Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45810919: 45810919
44 SLC35C1 NM_018389.4(SLC35C1): c.679A> G (p.Ile227Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45832470: 45832470
45 SLC35C1 NM_018389.4(SLC35C1): c.356C> A (p.Pro119His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45827708: 45827708
46 SLC35C1 NM_018389.4(SLC35C1): c.356C> A (p.Pro119His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45806157: 45806157
47 SLC35C1 NM_018389.4(SLC35C1): c.88G> A (p.Gly30Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45805889: 45805889
48 SLC35C1 NM_018389.4(SLC35C1): c.88G> A (p.Gly30Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45827440: 45827440
49 SLC35C1 NM_018389.4(SLC35C1): c.402C> T (p.Cys134=) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45827754: 45827754
50 SLC35C1 NM_018389.4(SLC35C1): c.402C> T (p.Cys134=) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45806203: 45806203

Expression for Congenital Disorder of Glycosylation, Type Iic

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

Pathways for Congenital Disorder of Glycosylation, Type Iic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 ALG2 FUT8 GMDS SLC35C1
2
Show member pathways
11.42 ALG2 GMDS SLC35C1
3
Show member pathways
11.23 ALG2 FUT8
4 11.05 HP SELP
5 11 EGF NOTCH1
6
Show member pathways
10.82 FUT1 FUT2
7 10.7 NOTCH1 POFUT1
8 10.05 FUT1 FUT2

GO Terms for Congenital Disorder of Glycosylation, Type Iic

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.35 FUT1 FUT2 FUT8 NOTCH1 SLC35C1
2 Golgi cisterna membrane GO:0032580 8.8 FUT1 FUT2 FUT8

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.65 EGF NOTCH1 POFUT1
2 carbohydrate metabolic process GO:0005975 9.61 FUT1 FUT2 POFUT1
3 Notch signaling pathway GO:0007219 9.5 GMDS NOTCH1 POFUT1
4 negative regulation of Notch signaling pathway GO:0045746 9.46 EGF SLC35C1
5 branching morphogenesis of an epithelial tube GO:0048754 9.4 EGF NOTCH1
6 regulation of Notch signaling pathway GO:0008593 9.37 NOTCH1 POFUT1
7 fucosylation GO:0036065 9.26 FUT1 FUT2
8 protein O-linked fucosylation GO:0036066 9.16 POFUT1 SLC35C1
9 L-fucose catabolic process GO:0042355 9.13 FUT1 FUT2 FUT8
10 protein glycosylation GO:0006486 9.02 ALG2 FUT1 FUT2 FUT8 POFUT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.35 ALG2 FUT1 FUT2 FUT8 POFUT1
2 calcium-dependent protein binding GO:0048306 9.26 ALG2 SELP
3 galactoside 2-alpha-L-fucosyltransferase activity GO:0008107 9.16 FUT1 FUT2
4 fucosyltransferase activity GO:0008417 8.8 FUT1 FUT2 POFUT1

Sources for Congenital Disorder of Glycosylation, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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