SLC35C1 gene related symptoms and diseases
All the information presented here about the SLC35C1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC35C1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Cellulitis | Uncommon - Between 30% and 50% cases |
| Otitis media | Uncommon - Between 30% and 50% cases |
| Febrile seizures | Uncommon - Between 30% and 50% cases |
| Recurrent otitis media | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC35C1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intellectual disability, progressive
- Obsessive-compulsive behavior
- Leukocytosis
- Periodontitis
- Bulbous nose
- Mild global developmental delay
- Echolalia
- Widow's peak
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC35C1 gene
Here you will find a list of rare diseases related to the SLC35C1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEUKOCYTE ADHESION DEFICIENCY TYPE II
Alternate names
LEUKOCYTE ADHESION DEFICIENCY TYPE II Is also known as slc35c1-cdg, lad-ii, rambam-hasharon syndrome, cdg2c, cdg syndrome type iic, cdg-iic
Description
Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
More info about LEUKOCYTE ADHESION DEFICIENCY TYPE II
SOURCES: ORPHANET
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C
Alternate names
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic, rhs, lad2, cdg iic, rambam-hasharon syndrome, leukocyte adhesion deficiency, type ii
Description
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 (OMIM ) and CDG2A (OMIM ).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 (OMIM ) 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.
Most common symptoms of CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C
Search interest in SLC35C1
Potential gene panels for SLC35C1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Congenital Disorders of Glycosylation Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Congenital Disorders of Glycosylation Panel that also includes the following genes: SLC35A1 ALG9 ALG1 ATP6V0A2 COG7 COG8 ALG12 SLC35C1 ALG3 ALG6
More info about this panel United States.
Congenital Disorders of Glycosylation Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Disorders of Glycosylation that also includes the following genes: SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panel United States.
Glycosylation disorder type IIc (sequence analysis of SLC35C1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC35C1 gene.
More info about this panel Portugal.
Congenital disorders of glycosylation (NGS panel for 39 genes) Panel
Portugal.
By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7
More info about this panel Portugal.
Leukocyte Adhesion Deficiency Type 2 (LADII) via SLC35C1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC35C1 gene.
More info about this panel United States.
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Congenital Disorders of Glycosylation (CDG) Panel
Germany.
By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8
More info about this panel Germany.
Glycosylation disorder type 2C Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC35C1 gene.
More info about this panel Germany.
Glycosylation disorde type 2C Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC35C1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Glycosylation disorder type 2C Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC35C1 gene.
More info about this panel Germany.
Congenital Disorders of Glycosylation (CDG) Panel Panel
Germany.
By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12
More info about this panel Germany.
Congenital Disorders of Glycosylation (CDG) Panel Panel
Germany.
By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12
More info about this panel Germany.
Bone marrow failure syndromes (Metabolism) Panel Panel
Germany.
By CeGaT GmbH Bone marrow failure syndromes (Metabolism) Panel that also includes the following genes: TCN2 SLC35C1 SLC46A1 SLC37A4
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Invitae Congenital Disorders of Glycosylation Panel Panel
United States.
By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
Leukocyte adhesion deficiency, type 2: SLC35C1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC35C1 gene.
More info about this panel Spain.
Congenital disorder of multiple glycosylation (CDG) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: SEC23B SLC35A1 COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panel Spain.
Congenital Disorder of Glycosylation IIc: SLC35C1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SLC35C1 gene.
More info about this panel United States.
Congenital Disorder of Glycosylation IIc: SLC35C1 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SLC35C1 gene.
More info about this panel United States.
Congenital Disorders of Glycosylation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Congenital Disorders of Glycosylation NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
SLC35C1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC35C1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Congenital Disorders of Glycosylation Panel Panel
Finland.
By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
LEUKOCYTE ADHESION DEFICIENCY TYPE I Panel
Spain.
By Laboratorio de Genetica Clinica SL LEUKOCYTE ADHESION DEFICIENCY TYPE I that also includes the following genes: SLC35C1 FERMT3 ITGB2
More info about this panel Spain.
Leukocyte Adhesion Deficiency Type 2, Sequencing SLC35C1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC35C1 gene.
More info about this panel Spain.
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SEC23B COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12 SLC35C1
More info about this panel Spain.
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