MCID: CNG209
MIFTS: 26

Congenital Disorder of Glycosylation, Type Iif

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 2f 59 29 6
Cdg2f 57 59 75
Congenital Disorder of Glycosylation Type Iif 59 75
Cdg Iif 57 75
Cdg-Iif 59 75
Cdgiif 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iif 59
Glycosylation, Congenital Disorder of, Type Iif 40
Congenital Disorder of Glycosylation 2f 75
Cmp-Sialic Acid Transporter Deficiency 59
Cdg Syndrome Type Iif 59
Cdg Iif; Cdgiif 57
Slc35a1-Cdg 59

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 infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 603585
Orphanet 59 ORPHA238459
UMLS via Orphanet 74 C1970344
ICD10 via Orphanet 34 E77.8
MedGen 42 C1970344
MeSH 44 D018981
UMLS 73 C1970344

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, is also known as congenital disorder of glycosylation type 2f. An important gene associated with Congenital Disorder of Glycosylation, Type Iif is SLC35A1 (Solute Carrier Family 35 Member A1). Affiliated tissues include eye and neutrophil, and related phenotypes are respiratory distress and thrombocytopenia

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 Io 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

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 17)
# 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 abnormal bleeding 59 Very frequent (99-80%)
12 recurrent bacterial infections 32 HP:0002718
13 abnormality of cells of the megakaryocyte lineage 59 Very frequent (99-80%)
14 intrapulmonary hemorrhage 59 Very frequent (99-80%)
15 pulmonary hemorrhage 32 hallmark (90%) HP:0040223
16 abnormal megakaryocyte morphology 32 hallmark (90%) HP:0012143
17 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, 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 16)
# 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 GRCh37 Chromosome 6, 88218764: 88218764
4 SLC35A1 NM_006416.4(SLC35A1): c.757G> C (p.Ala253Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 87509046: 87509046
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

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

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
Content
Loading form....