SLC35A1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG2F
CDG syndrome type IIf
CDGIIf
Congenital disorder of glycosylation type 2f
CDG IIf
Congenital disorder of glycosylation type IIf
CDG-IIf
Carbohydrate deficient glycoprotein syndrome type IIf
CMP-sialic acid transporter deficiency
Number of Symptoms 11
OrphanetNr: 238459
OMIM Id: 603585
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: No data available
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with nephropathy as a major feature
 -Rare genetic disease
 -Rare renal disease
Disorder of multiple glycosylation
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001875) Neutropenia 83 / 7739
2
 (HPO:0001873) Thrombocytopenia 224 / 7739
3
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
4
 (OMIM) Normal transferrin isoelectric profile 1 / 7739
5
 (OMIM) Abnormal platelets with giant morphology 1 / 7739
6
 (OMIM) Megakaryocytes show ultrastructural defects with abnormal membranes 1 / 7739
7
 (OMIM) Recurrent hemorrhagic events 1 / 7739
8
 (HPO:0003593) Infantile onset 249 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Platelets show decreased GPIb 1 / 7739
11
 (OMIM) Neutrophil membranes show absence of sialyl-Lewis-X 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Willig et al. (2001) reported a 4-month-old boy who presented with a spontaneous massive bleed in the posterior chamber of the right eye along with cutaneous hemorrhages. Laboratory studies showed marked thrombocytopenia and neutropenia. The patient experienced multiple ...
Molecular genetics OMIM In a patient originally described by Willig et al. (2001), Martinez-Duncker et al. (2005) identified compound heterozygosity for 2 mutations in the SLC35A1 gene (605634.0001; 605634.0002). Martinez-Duncker et al. (2005) referred to this disorder as CDG type IIf. ...