CDG2F
MCID: CNG209
MIFTS: 39

Congenital Disorder of Glycosylation, Type Iif (CDG2F)

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 Iif

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Iif:

Name: Congenital Disorder of Glycosylation, Type Iif 58 13 74
Congenital Disorder of Glycosylation Type Iif 12 60 76 15
Cdg2f 58 12 60 76
Congenital Disorder of Glycosylation Type 2f 60 30 6
Cdg Iif 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iif 12 60
Cmp-Sialic Acid Transporter Deficiency 12 60
Cdg-Iif 60 76
Cdgiif 58 76
Glycosylation, Congenital Disorder of, Type Iif 41
Congenital Disorder of Glycosylation 2f 76
Cdg Syndrome Type Iif 60
Cdg Iif; Cdgiif 58
Slc35a1-Cdg 60
Cdgiidf 12

Characteristics:

Orphanet epidemiological data:

60
slc35a1-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or childhood
patient a died at age 3 years
patient c had onset at age 7 years
three unrelated patients have been reported (last curated january 2018)


HPO:

33
congenital disorder of glycosylation, type iif:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iif

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2F: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iif, also known as congenital disorder of glycosylation type iif, is related to congenital disorder of glycosylation, type iid and congenital disorder of glycosylation, type ii. An important gene associated with Congenital Disorder of Glycosylation, Type Iif is SLC35A1 (Solute Carrier Family 35 Member A1), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include eye and neutrophil, and related phenotypes are respiratory distress and thrombocytopenia

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of SLC35A1 on chromosome 6q15.

Description from OMIM: 603585

Related Diseases for Congenital Disorder of Glycosylation, Type Iif

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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 Iif via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iid 9.7 ALG2 B4GALT1
2 congenital disorder of glycosylation, type ii 9.7 ALG2 MAN1B1 SLC35A1
3 congenital disorder of glycosylation, type in 9.6 ALG2 MAN1B1 SLC35A1
4 congenital disorder of glycosylation, type iim 9.3 ALG2 B4GALT1 MAN1B1 SLC35A1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iif

Human phenotypes related to Congenital Disorder of Glycosylation, Type Iif:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
2 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
3 hypoxemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012418
4 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
5 cellulitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100658
6 prolonged bleeding time 60 33 hallmark (90%) Very frequent (99-80%) HP:0003010
7 subcutaneous hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0001933
8 pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002090
9 giant platelets 60 33 hallmark (90%) Very frequent (99-80%) HP:0001902
10 abnormal platelet granules 60 33 hallmark (90%) Very frequent (99-80%) HP:0011883
11 pulmonary hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0040223
12 abnormal megakaryocyte morphology 33 hallmark (90%) HP:0012143
13 nystagmus 33 HP:0000639
14 intellectual disability 33 HP:0001249
15 seizures 33 HP:0001250
16 ataxia 33 HP:0001251
17 dysarthria 33 HP:0001260
18 global developmental delay 33 HP:0001263
19 microcephaly 33 HP:0000252
20 proteinuria 33 HP:0000093
21 aminoaciduria 33 HP:0003355
22 abnormal bleeding 60 Very frequent (99-80%)
23 deeply set eye 33 HP:0000490
24 flat occiput 33 HP:0005469
25 hypotelorism 33 HP:0000601
26 encephalopathy 33 HP:0001298
27 recurrent bacterial infections 33 HP:0002718
28 macrothrombocytopenia 33 HP:0040185
29 abnormality of cells of the megakaryocyte lineage 60 Very frequent (99-80%)
30 poor speech 33 HP:0002465
31 orofacial dyskinesia 33 HP:0002310
32 decreased platelet glycoprotein ib 33 HP:0031156

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly

Head And Neck Head:
microcephaly
flat occiput (patient b)

Muscle Soft Tissue:
hypotonia

Skeletal:
joint hyperlaxity

Head And Neck Eyes:
hypotelorism (patient b)
deep-set eyes (patient b)
nystagmus (patient c)

Cardiovascular Heart:
aortic insufficiency (patient b)

Hematology:
thrombocytopenia (patient a)
macrothrombocytopenia (patient b)
neutropenia (patient a)
recurrent hemorrhagic events (patients a and b)
abnormal platelets with giant morphology (patient a)
more
Laboratory Abnormalities:
isoelectric focusing of patient serum transferrin shows hypoglycosylation serum transferrin shows a pattern consistent with type ii cdg
reduced sialylation
combined defect in n- and mucin-type o-glycosylation
proteinuria (patient b)
aminoaciduria (patient b)

Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
dysarthria
encephalopathy
more
Neurologic Peripheral Nervous System:
hyporeflexia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Face:
short philtrum (patient b)

Head And Neck Neck:
webbed neck (patient b)

Genitourinary Kidneys:
renal tubulopathy (patient b)

Immunology:
recurrent bacterial infections (patient a)

Clinical features from OMIM:

603585

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iif

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iif

Genetic Tests for Congenital Disorder of Glycosylation, Type Iif

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2f 30 SLC35A1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iif

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

42
Eye, Neutrophil

Publications for Congenital Disorder of Glycosylation, Type Iif

Variations for Congenital Disorder of Glycosylation, Type Iif

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35A1 NM_006416.4(SLC35A1): c.887-8C> T single nucleotide variant Likely benign rs1372861855 GRCh38 Chromosome 6, 87511391: 87511391
2 SLC35A1 NM_006416.4(SLC35A1): c.887-8C> T single nucleotide variant Likely benign rs1372861855 GRCh37 Chromosome 6, 88221109: 88221109
3 SLC35A1 NM_006416.4(SLC35A1): c.757G> C (p.Ala253Pro) single nucleotide variant Uncertain significance rs1484245900 GRCh37 Chromosome 6, 88218764: 88218764
4 SLC35A1 NM_006416.4(SLC35A1): c.757G> C (p.Ala253Pro) single nucleotide variant Uncertain significance rs1484245900 GRCh38 Chromosome 6, 87509046: 87509046
5 SLC35A1 NM_006416.4(SLC35A1): c.303G> C (p.Gln101His) single nucleotide variant Pathogenic rs1554166294 GRCh38 Chromosome 6, 87500616: 87500616
6 SLC35A1 NM_006416.4(SLC35A1): c.303G> C (p.Gln101His) single nucleotide variant Pathogenic rs1554166294 GRCh37 Chromosome 6, 88210334: 88210334
7 SLC35A1 NM_006416.4(SLC35A1): c.467C> G (p.Thr156Arg) single nucleotide variant Pathogenic rs578205635 GRCh38 Chromosome 6, 87501270: 87501270
8 SLC35A1 NM_006416.4(SLC35A1): c.467C> G (p.Thr156Arg) single nucleotide variant Pathogenic rs578205635 GRCh37 Chromosome 6, 88210988: 88210988
9 SLC35A1 NM_006416.4(SLC35A1): c.586G> A (p.Glu196Lys) single nucleotide variant Pathogenic rs1554166844 GRCh37 Chromosome 6, 88218149: 88218149
10 SLC35A1 NM_006416.4(SLC35A1): c.586G> A (p.Glu196Lys) single nucleotide variant Pathogenic rs1554166844 GRCh38 Chromosome 6, 87508431: 87508431
11 SLC35A1 NM_006416.4(SLC35A1): c.147T> C (p.Cys49=) single nucleotide variant no interpretation for the single variant rs1554164712 GRCh37 Chromosome 6, 88187210: 88187210
12 SLC35A1 NM_006416.4(SLC35A1): c.147T> C (p.Cys49=) single nucleotide variant no interpretation for the single variant rs1554164712 GRCh38 Chromosome 6, 87477492: 87477492
13 SLC35A1 NM_006416.4(SLC35A1): c.277delG (p.Val93Cysfs) deletion no interpretation for the single variant rs1554166288 GRCh38 Chromosome 6, 87500590: 87500590
14 SLC35A1 NM_006416.4(SLC35A1): c.277delG (p.Val93Cysfs) deletion no interpretation for the single variant rs1554166288 GRCh37 Chromosome 6, 88210308: 88210308
15 SLC35A1 NM_006416.4(SLC35A1): c.281delC (p.Pro94Hisfs) deletion no interpretation for the single variant rs1554166289 GRCh37 Chromosome 6, 88210312: 88210312
16 SLC35A1 NM_006416.4(SLC35A1): c.281delC (p.Pro94Hisfs) deletion no interpretation for the single variant rs1554166289 GRCh38 Chromosome 6, 87500594: 87500594
17 SLC35A1 NM_006416.4(SLC35A1): c.569T> C (p.Phe190Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 87506443: 87506443
18 SLC35A1 NM_006416.4(SLC35A1): c.569T> C (p.Phe190Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 88216161: 88216161

Expression for Congenital Disorder of Glycosylation, Type Iif

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iif.

Pathways for Congenital Disorder of Glycosylation, Type Iif

GO Terms for Congenital Disorder of Glycosylation, Type Iif

Cellular components related to Congenital Disorder of Glycosylation, Type Iif according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.73 ADGRL1 ALG2 B4GALT1 MAN1B1 SLC35A1 ST6GALNAC5
2 integral component of membrane GO:0016021 9.43 ADGRL1 ALG2 B4GALT1 MAN1B1 SLC35A1 ST6GALNAC5
3 Golgi membrane GO:0000139 9.33 B4GALT1 SLC35A1 ST6GALNAC5
4 Golgi apparatus GO:0005794 8.92 B4GALT1 MAN1B1 SLC35A1 ST6GALNAC5

Biological processes related to Congenital Disorder of Glycosylation, Type Iif according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 B4GALT1 SLC35A1
2 oligosaccharide biosynthetic process GO:0009312 8.96 B4GALT1 ST6GALNAC5
3 protein glycosylation GO:0006486 8.92 ALG2 B4GALT1 MAN1B1 ST6GALNAC5

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.8 ALG2 B4GALT1 ST6GALNAC5

Sources for Congenital Disorder of Glycosylation, Type Iif

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