CDG2C
MCID: CNG208
MIFTS: 48

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
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 29 6
Leukocyte Adhesion Deficiency, Type Ii 56 54
Leukocyte Adhesion Deficiency Type Ii 58 73
Leukocyte Adhesion Deficiency 2 12 15
Cdg-Iic 58 73
Lad2 56 73
Glycosylation, Congenital Disorder of, Type Iic 39
Congenital Disorder of Glycosylation, Type 2c 71
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
MeSH 43 D018981
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 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). The drugs Sargramostim and Fludarabine 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 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 512)
# 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 11.9
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 hemolytic anemia 10.5
21 hypogonadotropism 10.5
22 toxoplasmosis 10.5
23 hypogonadism 10.5
24 fetal erythroblastosis 10.4
25 deficiency anemia 10.4
26 pulmonary hypertension, primary, 3 10.4
27 endometriosis 10.4
28 leukocyte adhesion deficiency, type i 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 10.3
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 thrombocytopenia 10.3
43 neutropenia 10.3
44 respiratory syncytial virus infectious disease 10.3
45 blood group incompatibility 10.2
46 pancreatic cancer 10.2
47 anorexia nervosa 10.2
48 metabolic acidosis 10.2
49 prostatic hypertrophy 10.2
50 lung cancer 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 brachydactyly 31 very rare (1%) HP:0001156
4 short stature 31 very rare (1%) HP:0004322
5 short foot 31 very rare (1%) HP:0001773
6 autism 31 very rare (1%) HP:0000717
7 recurrent otitis media 31 very rare (1%) HP:0000403
8 anxiety 31 very rare (1%) HP:0000739
9 echolalia 31 very rare (1%) HP:0010529
10 obsessive-compulsive behavior 31 very rare (1%) HP:0000722
11 febrile seizures 31 very rare (1%) HP:0002373
12 widow's peak 31 very rare (1%) HP:0000349
13 bronchiolitis 31 very rare (1%) HP:0011950
14 muscular hypotonia 31 HP:0001252
15 cerebral cortical atrophy 31 HP:0002120
16 microcephaly 31 HP:0000252
17 intellectual disability, severe 31 HP:0010864
18 abnormality of metabolism/homeostasis 31 HP:0001939
19 generalized hypotonia 31 HP:0001290
20 intellectual disability, progressive 31 HP:0006887
21 bulbous nose 31 HP:0000414
22 periodontitis 31 HP:0000704
23 cellulitis 31 HP:0100658
24 pneumonia 31 HP:0002090
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

Head And Neck Head:
microcephaly

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

Growth Height:
short stature

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

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:

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. 6 56
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 all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC35C1 NM_018389.4(SLC35C1):c.439C>T (p.Arg147Cys)SNV Pathogenic 4739 rs28939087 11:45827791-45827791 11:45806240-45806240
2 SLC35C1 NM_018389.4(SLC35C1):c.923C>G (p.Thr308Arg)SNV Pathogenic 4740 rs28937886 11:45832714-45832714 11:45811163-45811163
3 SLC35C1 NM_018389.4(SLC35C1):c.91G>T (p.Glu31Ter)SNV Pathogenic 95906 rs398124345 11:45827443-45827443 11:45805892-45805892
4 SLC35C1 NM_018389.4(SLC35C1):c.872C>T (p.Thr291Ile)SNV Likely pathogenic 216999 rs751828447 11:45832663-45832663 11:45811112-45811112
5 SLC35C1 NM_001145266.1(SLC35C1):c.962C>A (p.Ser321Tyr)SNV Likely pathogenic 522953 rs1554953926 11:45832792-45832792 11:45811241-45811241
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_018389.4(SLC35C1):c.522C>T (p.Cys174=)SNV Conflicting interpretations of pathogenicity 304739 rs141379070 11:45827874-45827874 11:45806323-45806323
8 SLC35C1 NM_018389.4(SLC35C1):c.503_505del (p.Phe168del)deletion Conflicting interpretations of pathogenicity 144046 rs587777655 11:45827855-45827857 11:45806304-45806306
9 SLC35C1 NM_018389.4(SLC35C1):c.666G>A (p.Ala222=)SNV Uncertain significance 304740 rs754930082 11:45832457-45832457 11:45810906-45810906
10 SLC35C1 NM_018389.4(SLC35C1):c.1055C>A (p.Pro352His)SNV Uncertain significance 391722 rs200843978 11:45832846-45832846 11:45811295-45811295
11 SLC35C1 NM_018389.4(SLC35C1):c.672C>G (p.Asp224Glu)SNV Uncertain significance 461478 rs528291665 11:45832463-45832463 11:45810912-45810912
12 SLC35C1 NM_018389.4(SLC35C1):c.116T>C (p.Leu39Ser)SNV Uncertain significance 530695 rs771587118 11:45827468-45827468 11:45805917-45805917
13 SLC35C1 NM_018389.4(SLC35C1):c.120G>T (p.Gln40His)SNV Uncertain significance 530694 rs1554953091 11:45827472-45827472 11:45805921-45805921
14 SLC35C1 NM_018389.4(SLC35C1):c.679A>G (p.Ile227Val)SNV Uncertain significance 578912 rs1565043377 11:45832470-45832470 11:45810919-45810919
15 SLC35C1 NM_018389.4(SLC35C1):c.356C>A (p.Pro119His)SNV Uncertain significance 571074 rs1249225084 11:45827708-45827708 11:45806157-45806157
16 SLC35C1 NM_018389.4(SLC35C1):c.88G>A (p.Gly30Arg)SNV Uncertain significance 566519 11:45827440-45827440 11:45805889-45805889
17 SLC35C1 NM_018389.4(SLC35C1):c.402C>T (p.Cys134=)SNV Uncertain significance 626020 rs955606062 11:45827754-45827754 11:45806203-45806203
18 SLC35C1 NM_018389.4(SLC35C1):c.712G>A (p.Ala238Thr)SNV Uncertain significance 646588 11:45832503-45832503 11:45810952-45810952
19 SLC35C1 NM_018389.4(SLC35C1):c.754C>G (p.Leu252Val)SNV Uncertain significance 648641 11:45832545-45832545 11:45810994-45810994
20 SLC35C1 NM_018389.4(SLC35C1):c.766C>T (p.Arg256Cys)SNV Uncertain significance 663832 11:45832557-45832557 11:45811006-45811006
21 SLC35C1 NM_018389.4(SLC35C1):c.767G>A (p.Arg256His)SNV Uncertain significance 657718 11:45832558-45832558 11:45811007-45811007
22 SLC35C1 NM_018389.4(SLC35C1):c.878C>T (p.Pro293Leu)SNV Uncertain significance 665492 11:45832669-45832669 11:45811118-45811118
23 SLC35C1 NM_018389.4(SLC35C1):c.890A>G (p.Asn297Ser)SNV Uncertain significance 649048 11:45832681-45832681 11:45811130-45811130
24 SLC35C1 NM_018389.4(SLC35C1):c.903G>A (p.Thr301=)SNV Uncertain significance 653454 11:45832694-45832694 11:45811143-45811143
25 SLC35C1 NM_018389.4(SLC35C1):c.1025G>T (p.Gly342Val)SNV Uncertain significance 647679 11:45832816-45832816 11:45811265-45811265
26 SLC35C1 NM_018389.4(SLC35C1):c.1031A>G (p.Glu344Gly)SNV Uncertain significance 655171 11:45832822-45832822 11:45811271-45811271
27 SLC35C1 NM_018389.4(SLC35C1):c.1081G>A (p.Ala361Thr)SNV Uncertain significance 657343 11:45832872-45832872 11:45811321-45811321
28 SLC35C1 NM_018389.4(SLC35C1):c.534C>T (p.Ile178=)SNV Uncertain significance 530696 rs149296455 11:45827886-45827886 11:45806335-45806335
29 SLC35C1 NM_018389.4(SLC35C1):c.840C>T (p.Ile280=)SNV Likely benign 530698 rs368103927 11:45832631-45832631 11:45811080-45811080
30 SLC35C1 NM_018389.4(SLC35C1):c.645C>T (p.Tyr215=)SNV Likely benign 530697 rs200626011 11:45832436-45832436 11:45810885-45810885
31 SLC35C1 NM_018389.4(SLC35C1):c.312C>T (p.Phe104=)SNV Likely benign 461477 rs75224835 11:45827664-45827664 11:45806113-45806113
32 SLC35C1 NM_018389.4(SLC35C1):c.975G>A (p.Thr325=)SNV Likely benign 530700 rs377098836 11:45832766-45832766 11:45811215-45811215
33 SLC35C1 NM_018389.4(SLC35C1):c.585G>A (p.Ser195=)SNV Likely benign 530702 rs750284604 11:45832376-45832376 11:45810825-45810825
34 SLC35C1 NM_018389.4(SLC35C1):c.598G>A (p.Val200Ile)SNV Likely benign 530701 rs146971634 11:45832389-45832389 11:45810838-45810838
35 SLC35C1 NM_018389.4(SLC35C1):c.903G>T (p.Thr301=)SNV Likely benign 530699 rs150743224 11:45832694-45832694 11:45811143-45811143
36 SLC35C1 NM_018389.4(SLC35C1):c.1047G>A (p.Pro349=)SNV Benign/Likely benign 390906 rs113735964 11:45832838-45832838 11:45811287-45811287

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

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 antiporter activity GO:0015297 8.62 SLC35E3 SLC35C1

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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