CDG2F
MCID: CNG209
MIFTS: 44

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 57 13 73
Congenital Disorder of Glycosylation Type Iif 12 59 75 15
Cdg2f 57 12 59 75
Congenital Disorder of Glycosylation Type 2f 59 29 6
Cdg Iif 57 12 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iif 12 59
Cmp-Sialic Acid Transporter Deficiency 12 59
Cdg-Iif 59 75
Cdgiif 57 75
Glycosylation, Congenital Disorder of, Type Iif 40
Congenital Disorder of Glycosylation 2f 75
Cdg Syndrome Type Iif 59
Cdg Iif; Cdgiif 57
Slc35a1-Cdg 59
Cdgiidf 12

Characteristics:

Orphanet epidemiological data:

59
slc35a1-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
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:

32
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 : 75 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 iih and congenital disorder of glycosylation, type iio. 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, skin and liver, 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 in 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 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iih 10.0 ALG2 TF
2 congenital disorder of glycosylation, type iio 10.0 MAN1B1 PGM1
3 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.0 PMM2 TF
4 epileptic encephalopathy, early infantile, 36 10.0 ALG2 PMM2
5 congenital disorder of glycosylation, type iip 10.0 MAN1B1 PGM1
6 congenital disorder of glycosylation, type ia 9.9 PMM2 TF
7 congenital disorder of glycosylation, type iii 9.9 ALG2 PMM2 TF
8 carbohydrate metabolic disorder 9.9 ALG2 PMM2
9 congenital disorder of glycosylation, type iia 9.9 ALG2 PMM2 TF
10 fructose intolerance, hereditary 9.9 ALG2 PMM2 TF
11 congenital disorder of glycosylation, type iik 9.8 PGM1 PMM2 TF
12 congenital disorder of glycosylation, type iid 9.8 ALG2 B4GALT1 PMM2 TF
13 congenital disorder of glycosylation, type ii 9.7 ALG2 MAN1B1 PMM2 SLC35A1 TF
14 congenital disorder of glycosylation, type in 9.5 ALG2 MAN1B1 PGM1 PMM2 SLC35A1 TF
15 congenital disorder of glycosylation, type iim 8.7 ALG2 B4GALT1 GYPC MAN1B1 MGAT4C PGM1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iif:



Diseases related to Congenital Disorder of Glycosylation, Type Iif

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iif

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
2 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
3 hypoxemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012418
4 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
5 cellulitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100658
6 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
7 subcutaneous hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0001933
8 pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002090
9 giant platelets 59 32 hallmark (90%) Very frequent (99-80%) HP:0001902
10 abnormal platelet granules 59 32 hallmark (90%) Very frequent (99-80%) HP:0011883
11 nystagmus 32 HP:0000639
12 intellectual disability 32 HP:0001249
13 seizures 32 HP:0001250
14 ataxia 32 HP:0001251
15 dysarthria 32 HP:0001260
16 global developmental delay 32 HP:0001263
17 microcephaly 32 HP:0000252
18 proteinuria 32 HP:0000093
19 aminoaciduria 32 HP:0003355
20 abnormal bleeding 59 Very frequent (99-80%)
21 deeply set eye 32 HP:0000490
22 flat occiput 32 HP:0005469
23 hypotelorism 32 HP:0000601
24 encephalopathy 32 HP:0001298
25 recurrent bacterial infections 32 HP:0002718
26 poor speech 32 HP:0002465
27 orofacial dyskinesia 32 HP:0002310
28 abnormality of cells of the megakaryocyte lineage 59 Very frequent (99-80%)
29 intrapulmonary hemorrhage 59 Very frequent (99-80%)
30 macrothrombocytopenia 32 HP:0040185
31 pulmonary hemorrhage 32 hallmark (90%) HP:0040223
32 abnormal megakaryocyte morphology 32 hallmark (90%) HP:0012143
33 decreased platelet glycoprotein ib 32 HP:0031156

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 29 SLC35A1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iif

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

41
Eye, Skin, Liver, Bone, 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 GRCh38 Chromosome 6, 87511391: 87511391
2 SLC35A1 NM_006416.4(SLC35A1): c.887-8C> T single nucleotide variant Likely benign GRCh37 Chromosome 6, 88221109: 88221109
3 SLC35A1 NM_006416.4(SLC35A1): c.757G> C (p.Ala253Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 87509046: 87509046
4 SLC35A1 NM_006416.4(SLC35A1): c.757G> C (p.Ala253Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 88218764: 88218764
5 SLC35A1 NM_006416.4(SLC35A1): c.303G> C (p.Gln101His) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 87500616: 87500616
6 SLC35A1 NM_006416.4(SLC35A1): c.303G> C (p.Gln101His) single nucleotide variant Pathogenic 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 GRCh37 Chromosome 6, 88218149: 88218149
10 SLC35A1 NM_006416.4(SLC35A1): c.586G> A (p.Glu196Lys) single nucleotide variant Pathogenic 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 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 GRCh38 Chromosome 6, 87477492: 87477492
13 SLC35A1 NM_006416.4(SLC35A1): c.277delG (p.Val93Cysfs) deletion no interpretation for the single variant GRCh38 Chromosome 6, 87500590: 87500590
14 SLC35A1 NM_006416.4(SLC35A1): c.277delG (p.Val93Cysfs) deletion no interpretation for the single variant GRCh37 Chromosome 6, 88210308: 88210308
15 SLC35A1 NM_006416.4(SLC35A1): c.281delC (p.Pro94Hisfs) deletion no interpretation for the single variant GRCh37 Chromosome 6, 88210312: 88210312
16 SLC35A1 NM_006416.4(SLC35A1): c.281delC (p.Pro94Hisfs) deletion no interpretation for the single variant GRCh38 Chromosome 6, 87500594: 87500594
17 SLC35A1 NM_006416.4(SLC35A1): c.569T> C (p.Phe190Ser) single nucleotide variant Uncertain significance rs763621828 GRCh37 Chromosome 6, 88216161: 88216161
18 SLC35A1 NM_006416.4(SLC35A1): c.569T> C (p.Phe190Ser) single nucleotide variant Uncertain significance rs763621828 GRCh38 Chromosome 6, 87506443: 87506443

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 ALG2 B4GALT1 MAN1B1 MGAT4C PMM2 SLC35A1
2
Show member pathways
12.32 ALG2 B4GALT1 MAN1B1 MGAT4C PMM2 SLC35A1
3
Show member pathways
11.62 ALG2 PMM2 SLC35A1
4
Show member pathways
11.32 PGM1 PMM2
6 11.13 PGM1 TF
7
Show member pathways
10.97 B4GALT1 MGAT4C
8
Show member pathways
10.71 ALG2 B4GALT1 MAN1B1 MGAT4C

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 integral component of membrane GO:0016021 9.86 ADGRL1 ALG2 B4GALT1 GYPC MAN1B1 MGAT4C
2 Golgi apparatus GO:0005794 9.35 B4GALT1 MAN1B1 MGAT4C SLC35A1 SLC35A2
3 integral component of Golgi membrane GO:0030173 9.16 SLC35A1 SLC35A2
4 Golgi membrane GO:0000139 8.92 B4GALT1 MGAT4C SLC35A1 SLC35A2

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 9.5 B4GALT1 PGM1 SLC35A1
2 protein N-linked glycosylation GO:0006487 9.37 B4GALT1 PMM2
3 carbohydrate transport GO:0008643 9.26 SLC35A1 SLC35A2
4 galactose metabolic process GO:0006012 9.16 B4GALT1 SLC35A2
5 protein glycosylation GO:0006486 9.02 ALG2 B4GALT1 MAN1B1 MGAT4C PMM2
6 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 8.96 SLC35A1 SLC35A2

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 9.13 ALG2 B4GALT1 MGAT4C
2 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 8.62 SLC35A1 SLC35A2

Sources for Congenital Disorder of Glycosylation, Type Iif

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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