CDG2C
MCID: CNG208
MIFTS: 55

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 74
Congenital Disorder of Glycosylation Type Iic 12 74 15
Rambam-Hasharon Syndrome 57 12 59
Cdg Iic 57 12 74
Cdgiic 57 12 74
Congenital Disorder of Glycosylation Type 2c 29 6
Leukocyte Adhesion Deficiency, Type Ii 57 55
Leukocyte Adhesion Deficiency Type Ii 59 74
Cdg-Iic 59 74
Lad2 57 74
Glycosylation, Congenital Disorder of, Type Iic 40
Congenital Disorder of Glycosylation, Type 2c 72
Leukocyte Adhesion Deficiency, Type Ii; Lad2 57
Congenital Disorder of Glycosylation 2c 74
Leukocyte Adhesion Deficiency 2 12
Rambam-Hasharon Syndrome; Rhs 57
Rambam Hasharon Syndrome 75
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:



External Ids:

Disease Ontology 12 DOID:0070255 DOID:0080492
MeSH 44 D018981
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 73 C0398739
Orphanet 59 ORPHA99843
UMLS 72 C0398739

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 bombay phenotype and congenital disorder of glycosylation, type in, 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 N-Glycan biosynthesis. The drugs Sargramostim and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, lung and eye, 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 : 74 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 : 75 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 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 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 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 537)
# Related Disease Score Top Affiliating Genes
1 bombay phenotype 31.0 FUT2 FUT1
2 congenital disorder of glycosylation, type in 30.0 SLC35C1 HP ALG2
3 rh-null, amorph type 12.8
4 rh-null, regulator type 12.7
5 rh isoimmunization 12.5
6 retinohepatoendocrinologic syndrome 12.5
7 rapp-hodgkin syndrome 11.9
8 overhydrated hereditary stomatocytosis 11.7
9 hydrops fetalis 11.7
10 kernicterus 11.5
11 reticulohistiocytic granuloma 11.5
12 blood group--kell system 11.5
13 tricuspid valve disease 11.2
14 mitral valve disease 11.2
15 ramsay hunt syndrome i 11.2
16 prostate cancer 11.0
17 hemolytic disease due to fetomaternal alloimmunization 10.9
18 chromophobe renal cell carcinoma 10.7
19 amenorrhea 10.6
20 hemolytic anemia 10.5
21 hypogonadotropism 10.5
22 hypogonadism 10.5
23 toxoplasmosis 10.5
24 deficiency anemia 10.4
25 fetal erythroblastosis 10.4
26 leukocyte adhesion deficiency, type i 10.4
27 pulmonary hypertension, primary, 3 10.4
28 endometriosis 10.4
29 tetralogy of fallot 10.4
30 endocardial fibroelastosis 10.4
31 microcephaly 10.4
32 hypotonia 10.4
33 pertussis 10.4
34 precocious puberty 10.4
35 congenital disorders of n-linked glycosylation and multiple pathway 10.3
36 bilirubin metabolic disorder 10.3
37 cryptorchidism, unilateral or bilateral 10.3
38 purpura 10.3
39 infertility 10.3
40 hypogonadotropic hypogonadism 10.3
41 sickle cell disease 10.3
42 respiratory syncytial virus infectious disease 10.3
43 neutropenia 10.3
44 thrombocytopenia 10.3
45 blood group incompatibility 10.2
46 epileptic encephalopathy, early infantile, 36 10.2 SLC35C1 ALG2
47 pancreatic cancer 10.2
48 lung cancer 10.2
49 anorexia nervosa 10.2
50 metabolic acidosis 10.2

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:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 32 very rare (1%) HP:0000280
2 global developmental delay 32 very rare (1%) HP:0001263
3 short stature 32 very rare (1%) HP:0004322
4 short foot 32 very rare (1%) HP:0001773
5 autism 32 very rare (1%) HP:0000717
6 recurrent otitis media 32 very rare (1%) HP:0000403
7 anxiety 32 very rare (1%) HP:0000739
8 febrile seizures 32 very rare (1%) HP:0002373
9 obsessive-compulsive behavior 32 very rare (1%) HP:0000722
10 brachydactyly 32 very rare (1%) HP:0001156
11 echolalia 32 very rare (1%) HP:0010529
12 widow's peak 32 very rare (1%) HP:0000349
13 bronchiolitis 32 very rare (1%) HP:0011950
14 muscular hypotonia 32 HP:0001252
15 microcephaly 32 HP:0000252
16 intellectual disability, severe 32 HP:0010864
17 abnormality of metabolism/homeostasis 32 HP:0001939
18 generalized hypotonia 32 HP:0001290
19 cerebral cortical atrophy 32 HP:0002120
20 intellectual disability, progressive 32 HP:0006887
21 bulbous nose 32 HP:0000414
22 periodontitis 32 HP:0000704
23 cellulitis 32 HP:0100658
24 pneumonia 32 HP:0002090
25 abnormality of the integument 32 HP:0001574
26 reduction of neutrophil motility 32 HP:0005400

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

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 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

Drugs for Congenital Disorder of Glycosylation, Type Iic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Early Phase 1 83869-56-1, 123774-72-1
2
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 6436030 5284616 46835353
3
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
4
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
5
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
6
Everolimus Approved Early Phase 1 159351-69-6 6442177 70789204
7
Miconazole Approved, Investigational, Vet_approved Early Phase 1 22916-47-8 4189
8
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 21704 32326
9
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
10 Alkylating Agents Early Phase 1
11 Antifungal Agents Early Phase 1
12 Anti-Bacterial Agents Early Phase 1
13 Antibiotics, Antitubercular Early Phase 1
14 Adjuvants, Immunologic Early Phase 1
15 Anti-Infective Agents Early Phase 1
16 Immunologic Factors Early Phase 1
17 Immunosuppressive Agents Early Phase 1
18 Antineoplastic Agents, Immunological Early Phase 1
19 Antimetabolites, Antineoplastic Early Phase 1
20 Antimetabolites Early Phase 1
21 Antiviral Agents Early Phase 1
22 Antineoplastic Agents, Alkylating Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1F (L-fucose) in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 L-fucose
2 The Impact of Lung Cancer-derived Fibroblasts on Mast Cells Activation Completed NCT02161523
3 Allogeneic and Matched Unrelated Donor Stem Cell Transplantation for Congenital Immunodeficiencies or Patients With Autoinflammatory/Immunodysregulatory Conditions: Busulfan-Based Conditioning With Campath- 1H or h-ATG, Radiation, and Sirolimus Recruiting NCT00426517 Early Phase 1 Fludarabine;Total Body Irradiation, Busulfan, Campath-1H, or h-ATG, Fludarabine;Sirolimus or equivalent based on response;Granulocyte Colony Stimulating Factor (G-CSF)

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, Eye, Endothelial

Publications for Congenital Disorder of Glycosylation, Type Iic

Articles related to Congenital Disorder of Glycosylation, Type Iic:

(show all 25)
# Title Authors PMID Year
1
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. 8 71
24403049 2014
2
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. 8 71
12116250 2002
3
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. 8 71
11326279 2001
4
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 8 71
11326280 2001
5
Leukocyte adhesion deficiency II-from A to almost Z. 8 71
11213799 2000
6
Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. 8 71
1279426 1992
7
Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome. 9 8
9662431 1998
8
Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc. 8
18541720 2008
9
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. 8
17276979 2007
10
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
11
Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts. 8
11133780 2001
12
Glycoforum 8
11087718 2000
13
Correction of leukocyte adhesion deficiency type II with oral fucose. 8
10590041 1999
14
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 8
11003549 1999
15
A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. 8
10473542 1999
16
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. 8
9616215 1998
17
Prenatal diagnosis of Rambam-Hasharon syndrome. 8
8710783 1996
18
Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2. 8
8675661 1995
19
In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II. 8
8068953 1994
20
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. 8
1488976 1992
21
ELAM-1--dependent cell adhesion to vascular endothelium determined by a transfected human fucosyltransferase cDNA. 8
1699667 1990
22
Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation. 38
21060795 2010
23
O-fucosylation of notch occurs in the endoplasmic reticulum. 38
15653671 2005
24
Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35). 38
12759756 2004
25
Fucose: biosynthesis and biological function in mammals. 38
12651883 2003

Variations for Congenital Disorder of Glycosylation, Type Iic

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

6 (show all 36)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC35C1 NM_018389.4(SLC35C1): c.439C> T (p.Arg147Cys) single nucleotide variant Pathogenic rs28939087 11:45827791-45827791 11:45806240-45806240
2 SLC35C1 NM_018389.4(SLC35C1): c.923C> G (p.Thr308Arg) single nucleotide variant Pathogenic rs28937886 11:45832714-45832714 11:45811163-45811163
3 SLC35C1 NM_018389.4(SLC35C1): c.91G> T (p.Glu31Ter) single nucleotide variant Pathogenic rs398124345 11:45827443-45827443 11:45805892-45805892
4 SLC35C1 NM_018389.4(SLC35C1): c.1001C> A (p.Ser334Tyr) single nucleotide variant Likely pathogenic rs1554953926 11:45832792-45832792 11:45811241-45811241
5 SLC35C1 NM_018389.4(SLC35C1): c.872C> T (p.Thr291Ile) single nucleotide variant Likely pathogenic rs751828447 11:45832663-45832663 11:45811112-45811112
6 SLC35C1 NM_018389.4(SLC35C1): c.1054C> T (p.Pro352Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145613857 11:45832845-45832845 11:45811294-45811294
7 SLC35C1 NM_018389.4(SLC35C1): c.522C> T (p.Cys174=) single nucleotide variant Conflicting interpretations of pathogenicity rs141379070 11:45827874-45827874 11:45806323-45806323
8 SLC35C1 NM_018389.4(SLC35C1): c.503_505del (p.Phe168del) deletion Conflicting interpretations of pathogenicity rs587777655 11:45827855-45827857 11:45806304-45806306
9 SLC35C1 NM_018389.4(SLC35C1): c.116T> C (p.Leu39Ser) single nucleotide variant Uncertain significance rs771587118 11:45827468-45827468 11:45805917-45805917
10 SLC35C1 NM_018389.4(SLC35C1): c.120G> T (p.Gln40His) single nucleotide variant Uncertain significance rs1554953091 11:45827472-45827472 11:45805921-45805921
11 SLC35C1 NM_018389.4(SLC35C1): c.534C> T (p.Ile178=) single nucleotide variant Uncertain significance rs149296455 11:45827886-45827886 11:45806335-45806335
12 SLC35C1 NM_018389.4(SLC35C1): c.1055C> A (p.Pro352His) single nucleotide variant Uncertain significance rs200843978 11:45832846-45832846 11:45811295-45811295
13 SLC35C1 NM_018389.4(SLC35C1): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs528291665 11:45832463-45832463 11:45810912-45810912
14 SLC35C1 NM_018389.4(SLC35C1): c.666G> A (p.Ala222=) single nucleotide variant Uncertain significance rs754930082 11:45832457-45832457 11:45810906-45810906
15 SLC35C1 NM_018389.4(SLC35C1): c.679A> G (p.Ile227Val) single nucleotide variant Uncertain significance 11:45832470-45832470 11:45810919-45810919
16 SLC35C1 NM_018389.4(SLC35C1): c.356C> A (p.Pro119His) single nucleotide variant Uncertain significance 11:45827708-45827708 11:45806157-45806157
17 SLC35C1 NM_018389.4(SLC35C1): c.88G> A (p.Gly30Arg) single nucleotide variant Uncertain significance 11:45827440-45827440 11:45805889-45805889
18 SLC35C1 NM_018389.4(SLC35C1): c.402C> T (p.Cys134=) single nucleotide variant Uncertain significance 11:45827754-45827754 11:45806203-45806203
19 SLC35C1 NM_018389.4(SLC35C1): c.712G> A (p.Ala238Thr) single nucleotide variant Uncertain significance 11:45832503-45832503 11:45810952-45810952
20 SLC35C1 NM_018389.4(SLC35C1): c.754C> G (p.Leu252Val) single nucleotide variant Uncertain significance 11:45832545-45832545 11:45810994-45810994
21 SLC35C1 NM_018389.4(SLC35C1): c.766C> T (p.Arg256Cys) single nucleotide variant Uncertain significance 11:45832557-45832557 11:45811006-45811006
22 SLC35C1 NM_018389.4(SLC35C1): c.767G> A (p.Arg256His) single nucleotide variant Uncertain significance 11:45832558-45832558 11:45811007-45811007
23 SLC35C1 NM_018389.4(SLC35C1): c.878C> T (p.Pro293Leu) single nucleotide variant Uncertain significance 11:45832669-45832669 11:45811118-45811118
24 SLC35C1 NM_018389.4(SLC35C1): c.890A> G (p.Asn297Ser) single nucleotide variant Uncertain significance 11:45832681-45832681 11:45811130-45811130
25 SLC35C1 NM_018389.4(SLC35C1): c.903G> A (p.Thr301=) single nucleotide variant Uncertain significance 11:45832694-45832694 11:45811143-45811143
26 SLC35C1 NM_018389.4(SLC35C1): c.1025G> T (p.Gly342Val) single nucleotide variant Uncertain significance 11:45832816-45832816 11:45811265-45811265
27 SLC35C1 NM_018389.4(SLC35C1): c.1031A> G (p.Glu344Gly) single nucleotide variant Uncertain significance 11:45832822-45832822 11:45811271-45811271
28 SLC35C1 NM_018389.4(SLC35C1): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance 11:45832872-45832872 11:45811321-45811321
29 SLC35C1 NM_018389.4(SLC35C1): c.312C> T (p.Phe104=) single nucleotide variant Likely benign rs75224835 11:45827664-45827664 11:45806113-45806113
30 SLC35C1 NM_018389.4(SLC35C1): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs377098836 11:45832766-45832766 11:45811215-45811215
31 SLC35C1 NM_018389.4(SLC35C1): c.585G> A (p.Ser195=) single nucleotide variant Likely benign rs750284604 11:45832376-45832376 11:45810825-45810825
32 SLC35C1 NM_018389.4(SLC35C1): c.598G> A (p.Val200Ile) single nucleotide variant Likely benign rs146971634 11:45832389-45832389 11:45810838-45810838
33 SLC35C1 NM_018389.4(SLC35C1): c.903G> T (p.Thr301=) single nucleotide variant Likely benign rs150743224 11:45832694-45832694 11:45811143-45811143
34 SLC35C1 NM_018389.4(SLC35C1): c.840C> T (p.Ile280=) single nucleotide variant Likely benign rs368103927 11:45832631-45832631 11:45811080-45811080
35 SLC35C1 NM_018389.4(SLC35C1): c.645C> T (p.Tyr215=) single nucleotide variant Likely benign rs200626011 11:45832436-45832436 11:45810885-45810885
36 SLC35C1 NM_018389.4(SLC35C1): c.1047G> A (p.Pro349=) single nucleotide variant Benign/Likely benign rs113735964 11:45832838-45832838 11:45811287-45811287

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

74
# Symbol AA change Variation ID SNP ID
1 SLC35C1 p.Arg147Cys VAR_012347 rs28939087
2 SLC35C1 p.Thr308Arg VAR_012348 rs28937886

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 SLC35C1 GMDS FUT8 ALG2
2
Show member pathways
11.44 FUT8 ALG2
3
Show member pathways
11.42 SLC35C1 GMDS ALG2
4 11.05 NOTCH1 EGF
5 11 SELP HP
6
Show member pathways
10.82 FUT2 FUT1
7 10.7 POFUT1 NOTCH1
8 10.05 FUT2 FUT1

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 SLC35C1 NOTCH1 FUT8 FUT2 FUT1
2 Golgi cisterna membrane GO:0032580 8.8 FUT8 FUT2 FUT1

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

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 POFUT1 FUT8 FUT2 FUT1 ALG2
2 calcium-dependent protein binding GO:0048306 9.26 SELP ALG2
3 galactoside 2-alpha-L-fucosyltransferase activity GO:0008107 9.16 FUT2 FUT1
4 fucosyltransferase activity GO:0008417 8.8 POFUT1 FUT2 FUT1

Sources for Congenital Disorder of Glycosylation, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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