CDG2C
MCID: CNG208
MIFTS: 54

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 57 13
Cdg2c 57 12 59 75
Congenital Disorder of Glycosylation Type Iic 12 75 15
Leukocyte Adhesion Deficiency, Type Ii 57 12 55
Rambam-Hasharon Syndrome 57 12 59
Cdg Iic 57 12 75
Cdgiic 57 12 75
Lad2 57 12 75
Congenital Disorder of Glycosylation Type 2c 29 6
Leukocyte Adhesion Deficiency Type Ii 59 75
Cdg-Iic 59 75
Rhs 57 12
Glycosylation, Congenital Disorder of, Type Iic 40
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

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, amorph type and rh-null, regulator 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 Kit receptor signaling pathway and Phospholipase D signaling pathway. Affiliated tissues include neutrophil, bone and lung, and related phenotypes are muscular hypotonia and coarse facial features

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 : 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 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 216)
# Related Disease Score Top Affiliating Genes
1 rh-null, amorph type 12.6
2 rh-null, regulator type 12.6
3 retinohepatoendocrinologic syndrome 12.4
4 rh isoimmunization 12.4
5 hydrops fetalis 11.5
6 reticulohistiocytic granuloma 11.4
7 kernicterus 11.4
8 rapp-hodgkin syndrome 11.3
9 stomatocytosis i 11.2
10 tricuspid valve disease 11.0
11 mitral valve disease 11.0
12 blood group--kell system 11.0
13 ramsay hunt syndrome i 11.0
14 prostate cancer 10.8
15 bombay phenotype 10.4
16 leukocyte adhesion deficiency, type i 10.4
17 hypoxia 10.2
18 neuroblastoma 10.2
19 head injury 10.1 APOE THBD
20 mast-cell leukemia 10.1 ATP7A KITLG
21 triiodothyronine receptor auxiliary protein 10.1
22 chromophobe renal cell carcinoma 10.1
23 respiratory syncytial virus infectious disease 10.1
24 amenorrhea 10.1
25 xanthogranulomatous cholecystitis 10.1
26 sickle cell disease 10.1
27 scabies 10.1 CXCL8 KITLG
28 leukemia 10.0
29 hypogonadotropic hypogonadism 10.0
30 dental pulp disease 10.0 CXCL8 TAC1
31 mycobacterium abscessus 10.0 CXCL8 SYK
32 lung cancer 10.0
33 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
34 hypogonadism 10.0
35 fetal edema 10.0
36 primary orthostatic tremor 10.0
37 proximal spinal muscular atrophy 10.0 APOE SPG7
38 cyclic neutropenia 10.0 CXCL8 KITLG
39 adenoid hypertrophy 10.0 CYSLTR1 CYSLTR2
40 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
41 small cell cancer of the lung 10.0
42 hemolytic anemia 10.0
43 metabolic acidosis 10.0
44 purpura 10.0
45 hypokalemia 10.0
46 precocious puberty 10.0
47 nose disease 9.9 CXCL8 CYSLTR1 TAC1
48 upper respiratory tract disease 9.9 CXCL8 CYSLTR1 TAC1
49 bronchial disease 9.9 CXCL8 CYSLTR1 TAC1
50 congenital disorder of glycosylation, type in 9.9 ATP7A LIPE SLC35C1 TAC1 THBD

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 26)
# 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 cellulitis 32 HP:0100658
20 generalized hypotonia 32 HP:0001290
21 pneumonia 32 HP:0002090
22 echolalia 32 very rare (1%) HP:0010529
23 widow's peak 32 very rare (1%) HP:0000349
24 bronchiolitis 32 very rare (1%) HP:0011950
25 abnormality of the integument 32 HP:0001574
26 reduction of neutrophil motility 32 HP:0005400

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


seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 APOE ATP7A CYSLTR1 CYSLTR2 FCER1A KITLG
2 homeostasis/metabolism MP:0005376 10.1 APOE ATP7A CYSLTR2 FCER1A GMDS KITLG
3 immune system MP:0005387 10.07 APOE ATP7A CYSLTR1 CYSLTR2 FCER1A GMDS
4 integument MP:0010771 9.92 APOE ATP7A CYSLTR2 KITLG LIPE SLC35C1
5 liver/biliary system MP:0005370 9.73 APOE ATP7A KITLG LIPE SYK THBD
6 reproductive system MP:0005389 9.7 APOE ATP7A BMP6 KITLG LIPE SLC35C1
7 respiratory system MP:0005388 9.5 APOE ATP7A CYSLTR1 CYSLTR2 SLC35C1 SYK
8 skeleton MP:0005390 9.17 APOE ATP7A BMP6 GMDS KITLG SPG7

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, Bone, Lung, Skin, Liver, Eye, Breast

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 46)
# 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 GRCh37 Chromosome 11, 45827874: 45827874
14 SLC35C1 NM_018389.4(SLC35C1): c.522C> T (p.Cys174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141379070 GRCh38 Chromosome 11, 45806323: 45806323
15 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 GRCh37 Chromosome 11, 45832838: 45832838
16 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 GRCh38 Chromosome 11, 45811287: 45811287
17 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 GRCh38 Chromosome 11, 45810912: 45810912
18 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 GRCh37 Chromosome 11, 45832463: 45832463
19 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 GRCh38 Chromosome 11, 45806113: 45806113
20 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 GRCh37 Chromosome 11, 45827664: 45827664
21 SLC35C1 NM_001145266.1(SLC35C1): c.962C> A (p.Ser321Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 45811241: 45811241
22 SLC35C1 NM_001145266.1(SLC35C1): c.962C> A (p.Ser321Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 45832792: 45832792
23 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 GRCh37 Chromosome 11, 45832766: 45832766
24 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 GRCh38 Chromosome 11, 45811215: 45811215
25 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 GRCh38 Chromosome 11, 45810825: 45810825
26 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 GRCh37 Chromosome 11, 45832376: 45832376
27 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 GRCh38 Chromosome 11, 45810838: 45810838
28 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 GRCh37 Chromosome 11, 45832389: 45832389
29 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 GRCh38 Chromosome 11, 45811143: 45811143
30 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 GRCh37 Chromosome 11, 45832694: 45832694
31 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 GRCh37 Chromosome 11, 45827468: 45827468
32 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 GRCh38 Chromosome 11, 45805917: 45805917
33 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45827472: 45827472
34 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45805921: 45805921
35 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 GRCh37 Chromosome 11, 45832436: 45832436
36 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 GRCh38 Chromosome 11, 45810885: 45810885
37 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 GRCh38 Chromosome 11, 45806335: 45806335
38 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 GRCh37 Chromosome 11, 45827886: 45827886
39 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 GRCh38 Chromosome 11, 45811080: 45811080
40 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 GRCh37 Chromosome 11, 45832631: 45832631
41 SLC35C1 NM_018389.4(SLC35C1): c.679A> G (p.Ile227Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45810919: 45810919
42 SLC35C1 NM_018389.4(SLC35C1): c.679A> G (p.Ile227Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45832470: 45832470
43 SLC35C1 NM_018389.4(SLC35C1): c.356C> A (p.Pro119His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 45827708: 45827708
44 SLC35C1 NM_018389.4(SLC35C1): c.356C> A (p.Pro119His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 45806157: 45806157
45 SLC35C1 NM_018389.4(SLC35C1): c.88G> A (p.Gly30Arg) single nucleotide variant Uncertain significance rs761945760 GRCh38 Chromosome 11, 45805889: 45805889
46 SLC35C1 NM_018389.4(SLC35C1): c.88G> A (p.Gly30Arg) single nucleotide variant Uncertain significance rs761945760 GRCh37 Chromosome 11, 45827440: 45827440

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
11.34 CXCL8 KITLG SYK
2
Show member pathways
11.31 CXCL8 FCER1A KITLG SYK
3 10.69 CXCL8 THBD

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 plasma membrane GO:0005886 9.32 APOE ATP7A CYSLTR1 CYSLTR2 FCER1A KITLG

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide signaling pathway GO:0007218 9.43 CYSLTR1 CYSLTR2 TAC1
2 long-term memory GO:0007616 9.4 APOE TAC1
3 triglyceride catabolic process GO:0019433 9.37 APOE LIPE
4 negative regulation of blood coagulation GO:0030195 9.32 APOE THBD
5 negative regulation of platelet activation GO:0010544 9.16 APOE THBD
6 cellular response to iron ion GO:0071281 8.96 ATP7A BMP6
7 leukotriene signaling pathway GO:0061737 8.62 CYSLTR1 CYSLTR2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.33 BMP6 CXCL8 KITLG
2 galanin receptor activity GO:0004966 8.96 CYSLTR1 CYSLTR2
3 leukotriene receptor activity GO:0004974 8.62 CYSLTR1 CYSLTR2

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
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