CDG2C
MCID: CNG208
MIFTS: 51

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, Smell/Taste 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 56 13
Leukocyte Adhesion Deficiency Type Ii 58 73 29 6
Cdg2c 56 12 58 73
Congenital Disorder of Glycosylation Type Iic 12 73 15
Rambam-Hasharon Syndrome 56 12 58
Cdg Iic 56 12 73
Cdgiic 56 12 73
Congenital Disorder of Glycosylation, Type 2c 43 71
Leukocyte Adhesion Deficiency, Type Ii 56 54
Leukocyte Adhesion Deficiency 2 12 15
Cdg-Iic 58 73
Lad2 56 73
Glycosylation, Congenital Disorder of, Type Iic 39
Leukocyte Adhesion Deficiency, Type Ii; Lad2 56
Congenital Disorder of Glycosylation 2c 73
Rambam-Hasharon Syndrome; Rhs 56
Rambam Hasharon Syndrome 74
Cdg Syndrome Type Iic 58
Cdg Iic; Cdgiic 56
Lad-Ii 58
Rhs 56

Characteristics:

Orphanet epidemiological data:

58
leukocyte adhesion deficiency type ii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
frequency of infections decreases after 3 years of age


HPO:

31
congenital disorder of glycosylation, type iic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0070255 DOID:0080492
OMIM 56 266265
OMIM Phenotypic Series 56 PS212066
NCIt 49 C4690
SNOMED-CT 67 234583001
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C0398739
Orphanet 58 ORPHA99843
UMLS 71 C0398739

Summaries for Congenital Disorder of Glycosylation, Type Iic

OMIM : 56 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 leukocyte adhesion deficiency type ii, 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 is Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. The drugs Fludarabine and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, eye 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 : 73 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 : 74 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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

Diseases related to Congenital Disorder of Glycosylation, Type Iic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 518)
# Related Disease Score Top Affiliating Genes
1 rh-null, amorph type 12.8
2 rh-null, regulator type 12.7
3 rh isoimmunization 12.5
4 retinohepatoendocrinologic syndrome 12.5
5 rapp-hodgkin syndrome 12.0
6 overhydrated hereditary stomatocytosis 11.7
7 hydrops fetalis, nonimmune 11.7
8 kernicterus 11.5
9 reticulohistiocytic granuloma 11.5
10 blood group--kell system 11.5
11 tricuspid valve disease 11.2
12 mitral valve disease 11.2
13 ramsay hunt syndrome i 11.2
14 prostate cancer 11.0
15 hemolytic disease due to fetomaternal alloimmunization 10.9
16 neuroblastoma 10.8
17 chromophobe renal cell carcinoma 10.7
18 amenorrhea 10.6
19 bombay phenotype 10.6
20 toxoplasmosis 10.5
21 hemolytic anemia 10.5
22 hypogonadism 10.5
23 fetal erythroblastosis 10.4
24 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
25 pulmonary hypertension, primary, 3 10.4
26 endometriosis 10.4
27 leukocyte adhesion deficiency, type i 10.4
28 deficiency anemia 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 bilirubin metabolic disorder 10.4
36 congenital disorders of n-linked glycosylation and multiple pathway 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 10.3
46 pancreatic cancer 10.2
47 anorexia nervosa 10.2
48 metabolic acidosis 10.2
49 prostatic hypertrophy 10.2
50 congenital disorder of glycosylation, type in 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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 very rare (1%) HP:0000280
2 global developmental delay 31 very rare (1%) HP:0001263
3 short stature 31 very rare (1%) HP:0004322
4 autism 31 very rare (1%) HP:0000717
5 recurrent otitis media 31 very rare (1%) HP:0000403
6 anxiety 31 very rare (1%) HP:0000739
7 brachydactyly 31 very rare (1%) HP:0001156
8 obsessive-compulsive behavior 31 very rare (1%) HP:0000722
9 short foot 31 very rare (1%) HP:0001773
10 echolalia 31 very rare (1%) HP:0010529
11 widow's peak 31 very rare (1%) HP:0000349
12 bronchiolitis 31 very rare (1%) HP:0011950
13 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
14 muscular hypotonia 31 HP:0001252
15 microcephaly 31 HP:0000252
16 intellectual disability, severe 31 HP:0010864
17 abnormality of metabolism/homeostasis 31 HP:0001939
18 cerebral cortical atrophy 31 HP:0002120
19 intellectual disability, progressive 31 HP:0006887
20 periodontitis 31 HP:0000704
21 cellulitis 31 HP:0100658
22 bulbous nose 31 HP:0000414
23 pneumonia 31 HP:0002090
24 generalized hypotonia 31 HP:0001290
25 neutrophilia 31 HP:0011897
26 abnormality of the integument 31 HP:0001574
27 reduction of neutrophil motility 31 HP:0005400

Symptoms via clinical synopsis from OMIM:

56
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

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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
2
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
3
Sargramostim Approved, Investigational Early Phase 1 83869-56-1, 123774-72-1
4
Clotrimazole Approved, Vet_approved Early Phase 1 23593-75-1 2812
5
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 21704 32326
6
Miconazole Approved, Investigational, Vet_approved Early Phase 1 22916-47-8 4189
7
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
8
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
9
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 5284616 6436030 46835353
10 Molgramostim Investigational Early Phase 1 99283-10-0
11 Immunologic Factors Early Phase 1
12 Antineoplastic Agents, Immunological Early Phase 1
13 Adjuvants, Immunologic Early Phase 1
14 Immunosuppressive Agents Early Phase 1
15 Alkylating Agents Early Phase 1
16 Antifungal Agents Early Phase 1
17 Anti-Infective Agents Early Phase 1
18 Anti-Bacterial Agents Early Phase 1
19 Antiviral Agents Early Phase 1
20 Antimetabolites Early Phase 1
21 Antibiotics, Antitubercular 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 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 Completed 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)
3 The Impact of Lung Cancer-derived Fibroblasts on Mast Cells Activation Completed NCT02161523

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

Cochrane evidence based reviews: congenital disorder of glycosylation, type 2c

Genetic Tests for Congenital Disorder of Glycosylation, Type Iic

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

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency Type Ii 29 SLC35C1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iic

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

40
Neutrophil, Eye, Lung, 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. 56 6
24403049 2014
2
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. 6 56
12116250 2002
3
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. 56 6
11326279 2001
4
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 56 6
11326280 2001
5
Leukocyte adhesion deficiency II-from A to almost Z. 6 56
11213799 2000
6
Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. 56 6
1279426 1992
7
Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome. 54 56
9662431 1998
8
Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc. 56
18541720 2008
9
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. 56
17276979 2007
10
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
11
Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts. 56
11133780 2001
12
Glycoforum 56
11087718 2000
13
Correction of leukocyte adhesion deficiency type II with oral fucose. 56
10590041 1999
14
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 56
11003549 1999
15
A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. 56
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. 56
9616215 1998
17
Prenatal diagnosis of Rambam-Hasharon syndrome. 56
8710783 1996
18
Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2. 56
8675661 1995
19
In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II. 56
8068953 1994
20
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. 56
1488976 1992
21
ELAM-1--dependent cell adhesion to vascular endothelium determined by a transfected human fucosyltransferase cDNA. 56
1699667 1990
22
Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation. 61
21060795 2010
23
O-fucosylation of notch occurs in the endoplasmic reticulum. 61
15653671 2005
24
Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35). 61
12759756 2004
25
Fucose: biosynthesis and biological function in mammals. 61
12651883 2003

Variations for Congenital Disorder of Glycosylation, Type Iic

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

6 (show top 50) (show all 118) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC35C1 NM_018389.5(SLC35C1):c.367del (p.Val123fs)deletion Pathogenic 836912 11:45827718-45827718 11:45806167-45806167
2 SLC35C1 NM_018389.4(SLC35C1):c.439C>T (p.Arg147Cys)SNV Pathogenic 4739 rs28939087 11:45827791-45827791 11:45806240-45806240
3 SLC35C1 NM_018389.4(SLC35C1):c.923C>G (p.Thr308Arg)SNV Pathogenic 4740 rs28937886 11:45832714-45832714 11:45811163-45811163
4 SLC35C1 NM_018389.4(SLC35C1):c.91G>T (p.Glu31Ter)SNV Pathogenic 95906 rs398124345 11:45827443-45827443 11:45805892-45805892
5 SLC35C1 NM_018389.4(SLC35C1):c.872C>T (p.Thr291Ile)SNV Likely pathogenic 216999 rs751828447 11:45832663-45832663 11:45811112-45811112
6 SLC35C1 NM_018389.4(SLC35C1):c.1054C>T (p.Pro352Ser)SNV Conflicting interpretations of pathogenicity 252721 rs145613857 11:45832845-45832845 11:45811294-45811294
7 SLC35C1 NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)deletion Conflicting interpretations of pathogenicity 144046 rs587777655 11:45827855-45827857 11:45806302-45806304
8 SLC35C1 NM_018389.4(SLC35C1):c.663G>A (p.Pro221=)SNV Conflicting interpretations of pathogenicity 95904 rs111773874 11:45832454-45832454 11:45810903-45810903
9 SLC35C1 NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)SNV Conflicting interpretations of pathogenicity 723737 11:45827578-45827578 11:45806027-45806027
10 SLC35C1 NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)SNV Conflicting interpretations of pathogenicity 755027 11:45827403-45827403 11:45805852-45805852
11 SLC35C1 NM_018389.4(SLC35C1):c.522C>T (p.Cys174=)SNV Conflicting interpretations of pathogenicity 304739 rs141379070 11:45827874-45827874 11:45806323-45806323
12 SLC35C1 NM_018389.4(SLC35C1):c.748G>A (p.Gly250Arg)SNV Conflicting interpretations of pathogenicity 304742 rs148606857 11:45832539-45832539 11:45810988-45810988
13 SLC35C1 NM_018389.4(SLC35C1):c.747C>T (p.Leu249=)SNV Conflicting interpretations of pathogenicity 304741 rs567642788 11:45832538-45832538 11:45810987-45810987
14 SLC35C1 NM_018389.4(SLC35C1):c.1062C>T (p.Pro354=)SNV Uncertain significance 304745 rs886048315 11:45832853-45832853 11:45811302-45811302
15 SLC35C1 NM_018389.4(SLC35C1):c.-88T>GSNV Uncertain significance 304735 rs546865255 11:45827265-45827265 11:45805714-45805714
16 SLC35C1 NM_018389.4(SLC35C1):c.440G>A (p.Arg147His)SNV Uncertain significance 304738 rs886048314 11:45827792-45827792 11:45806241-45806241
17 SLC35C1 NM_018389.4(SLC35C1):c.*1619C>ASNV Uncertain significance 304769 rs552263015 11:45834505-45834505 11:45812954-45812954
18 SLC35C1 NM_018389.4(SLC35C1):c.-393C>TSNV Uncertain significance 304729 rs886048311 11:45826960-45826960 11:45805409-45805409
19 SLC35C1 NM_018389.4(SLC35C1):c.-312T>CSNV Uncertain significance 304730 rs886048312 11:45827041-45827041 11:45805490-45805490
20 SLC35C1 NM_018389.4(SLC35C1):c.837C>T (p.Ala279=)SNV Uncertain significance 304743 rs371692301 11:45832628-45832628 11:45811077-45811077
21 SLC35C1 NM_018389.4(SLC35C1):c.-518C>ASNV Uncertain significance 304727 rs886048309 11:45826835-45826835 11:45805284-45805284
22 SLC35C1 NM_018389.4(SLC35C1):c.-481G>ASNV Uncertain significance 304728 rs886048310 11:45826872-45826872 11:45805321-45805321
23 SLC35C1 NM_018389.4(SLC35C1):c.-234T>GSNV Uncertain significance 304732 rs886048313 11:45827119-45827119 11:45805568-45805568
24 SLC35C1 NM_018389.4(SLC35C1):c.-218G>CSNV Uncertain significance 304733 rs564660234 11:45827135-45827135 11:45805584-45805584
25 SLC35C1 NM_018389.4(SLC35C1):c.29G>A (p.Arg10Lys)SNV Uncertain significance 304736 rs567155861 11:45827381-45827381 11:45805830-45805830
26 SLC35C1 NM_018389.4(SLC35C1):c.151A>G (p.Thr51Ala)SNV Uncertain significance 304737 rs769916550 11:45827503-45827503 11:45805952-45805952
27 SLC35C1 NM_018389.4(SLC35C1):c.*542A>TSNV Uncertain significance 304750 rs538005835 11:45833428-45833428 11:45811877-45811877
28 SLC35C1 NM_018389.4(SLC35C1):c.-633T>GSNV Uncertain significance 304723 rs566857902 11:45826720-45826720 11:45805169-45805169
29 SLC35C1 NM_018389.4(SLC35C1):c.*1322A>GSNV Uncertain significance 304761 rs148127105 11:45834208-45834208 11:45812657-45812657
30 SLC35C1 NM_018389.4(SLC35C1):c.*1373G>CSNV Uncertain significance 304762 rs886048320 11:45834259-45834259 11:45812708-45812708
31 SLC35C1 NM_018389.4(SLC35C1):c.*1418C>ASNV Uncertain significance 304764 rs575219836 11:45834304-45834304 11:45812753-45812753
32 SLC35C1 NM_018389.4(SLC35C1):c.*1426G>ASNV Uncertain significance 304765 rs886048321 11:45834312-45834312 11:45812761-45812761
33 SLC35C1 NM_018389.4(SLC35C1):c.1055C>A (p.Pro352His)SNV Uncertain significance 391722 rs200843978 11:45832846-45832846 11:45811295-45811295
34 SLC35C1 NM_018389.4(SLC35C1):c.666G>A (p.Ala222=)SNV Uncertain significance 304740 rs754930082 11:45832457-45832457 11:45810906-45810906
35 SLC35C1 NM_018389.4(SLC35C1):c.1013C>T (p.Thr338Ile)SNV Uncertain significance 304744 rs768592798 11:45832804-45832804 11:45811253-45811253
36 SLC35C1 NM_018389.4(SLC35C1):c.*528G>ASNV Uncertain significance 304749 rs886048317 11:45833414-45833414 11:45811863-45811863
37 SLC35C1 NM_018389.4(SLC35C1):c.*1647T>CSNV Uncertain significance 304772 rs886048323 11:45834533-45834533 11:45812982-45812982
38 SLC35C1 NM_018389.4(SLC35C1):c.-653C>TSNV Uncertain significance 304722 rs150274138 11:45826700-45826700 11:45805149-45805149
39 SLC35C1 NM_018389.4(SLC35C1):c.-678A>GSNV Uncertain significance 304719 rs886048306 11:45826675-45826675 11:45805124-45805124
40 SLC35C1 NM_018389.4(SLC35C1):c.-657C>ASNV Uncertain significance 304721 rs550333679 11:45826696-45826696 11:45805145-45805145
41 SLC35C1 NM_018389.4(SLC35C1):c.-569C>TSNV Uncertain significance 304725 rs886048307 11:45826784-45826784 11:45805233-45805233
42 SLC35C1 NM_018389.4(SLC35C1):c.*72G>ASNV Uncertain significance 304746 rs528884213 11:45832958-45832958 11:45811407-45811407
43 SLC35C1 NM_018389.4(SLC35C1):c.*244G>ASNV Uncertain significance 304747 rs886048316 11:45833130-45833130 11:45811579-45811579
44 SLC35C1 NM_018389.4(SLC35C1):c.*572C>TSNV Uncertain significance 304751 rs886048318 11:45833458-45833458 11:45811907-45811907
45 SLC35C1 NM_018389.4(SLC35C1):c.*647T>CSNV Uncertain significance 304752 rs372196593 11:45833533-45833533 11:45811982-45811982
46 SLC35C1 NM_018389.4(SLC35C1):c.*650C>ASNV Uncertain significance 304753 rs780018107 11:45833536-45833536 11:45811985-45811985
47 SLC35C1 NM_018389.4(SLC35C1):c.*1156C>TSNV Uncertain significance 304756 rs886048319 11:45834042-45834042 11:45812491-45812491
48 SLC35C1 NM_018389.4(SLC35C1):c.534C>T (p.Ile178=)SNV Uncertain significance 530696 rs149296455 11:45827886-45827886 11:45806335-45806335
49 SLC35C1 NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp)SNV Uncertain significance 800528 11:45832633-45832633 11:45811082-45811082
50 SLC35C1 NC_000011.10:g.(?_45805782)_(45910982_?)dupduplication Uncertain significance 832501 11:45827333-45932533

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

73
# 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 10.93 SIGLEC8 SIGLEC7 SIGLEC5

GO Terms for Congenital Disorder of Glycosylation, Type Iic

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.33 SIGLEC8 SIGLEC7 SIGLEC5
2 antiporter activity GO:0015297 9.26 SLC35E3 SLC35C1
3 nucleotide-sugar transmembrane transporter activity GO:0005338 8.96 SLC35E3 SLC35C1
4 sialic acid binding GO:0033691 8.8 SIGLEC8 SIGLEC7 SIGLEC5

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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