CDG1F
MCID: CNG188
MIFTS: 31

Congenital Disorder of Glycosylation, Type if (CDG1F)

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 if

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

Name: Congenital Disorder of Glycosylation, Type if 58 13 74
Congenital Disorder of Glycosylation Type 1f 60 30 6
Cdg1f 58 60 76
Congenital Disorder of Glycosylation Type if 60 76
Cdg if 58 76
Cdg-if 60 76
Cdgif 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type if 60
Glycosylation, Congenital Disorder of, Type if 41
Congenital Disorder of Glycosylation 1f 76
Cdg Syndrome Type if 60
Cdg if; Cdgif 58
Mpdu1-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
mpdu1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
variable disease course
four unrelated patients have been reported (last curated august 2015)


HPO:

33
congenital disorder of glycosylation, type if:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type if

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1F: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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 if, also known as congenital disorder of glycosylation type 1f, is related to ichthyosis and congenital disorder of glycosylation, type in, and has symptoms including seizures, ataxia and dry skin. An important gene associated with Congenital Disorder of Glycosylation, Type if is MPDU1 (Mannose-P-Dolichol Utilization Defect 1). Affiliated tissues include skin, eye and liver, and related phenotypes are seizures and muscular hypotonia

OMIM : 58 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). (609180)

Related Diseases for Congenital Disorder of Glycosylation, Type if

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 if via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis 10.2
2 congenital disorder of glycosylation, type in 10.0

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type if

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

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
4 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
5 hypertonia 33 occasional (7.5%) HP:0001276
6 feeding difficulties 33 occasional (7.5%) HP:0011968
7 abnormality of the coagulation cascade 33 occasional (7.5%) HP:0003256
8 nystagmus 33 HP:0000639
9 ataxia 33 HP:0001251
10 failure to thrive 33 HP:0001508
11 global developmental delay 33 HP:0001263
12 microcephaly 33 HP:0000252
13 optic atrophy 33 HP:0000648
14 flexion contracture 33 HP:0001371
15 abnormality of the eye 60 Very frequent (99-80%)
16 hyperkeratosis 33 HP:0000962
17 scaling skin 33 HP:0040189
18 strabismus 33 HP:0000486
19 absent speech 33 HP:0001344
20 dry skin 33 HP:0000958
21 erythroderma 33 HP:0001019
22 generalized hypotonia 33 HP:0001290
23 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
amaurosis
lack of visual fixation
more
Growth Other:
failure to thrive
poor overall growth

Skin Nails Hair Skin:
hyperkeratosis
dry skin
erythroderma
scaly skin
patchy desquamation

Skeletal:
contractures

Abdomen Gastrointestinal:
poor feeding (in some patients)

Laboratory Abnormalities:
type 1 hypoglycosylation pattern of serum transferrin
accumulation of truncated oligosaccharides man(5)glcnac2 and man(9)glcnac(2)

Neurologic Central Nervous System:
seizures
ataxia
cerebral atrophy
delayed psychomotor development, severe
lack of speech
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Respiratory:
apnea, recurrent (1 patient)

Hematology:
coagulopathy, mild (in some patients)

Clinical features from OMIM:

609180

UMLS symptoms related to Congenital Disorder of Glycosylation, Type if:


seizures, ataxia, dry skin, scaly skin

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type if

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

Genetic Tests for Congenital Disorder of Glycosylation, Type if

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1f 30 MPDU1

Anatomical Context for Congenital Disorder of Glycosylation, Type if

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

42
Skin, Eye, Liver, Bone

Publications for Congenital Disorder of Glycosylation, Type if

Articles related to Congenital Disorder of Glycosylation, Type if:

# Title Authors Year
1
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). ( 11733556 )
2001
2
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. ( 11733564 )
2001

Variations for Congenital Disorder of Glycosylation, Type if

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type if:

76
# Symbol AA change Variation ID SNP ID
1 MPDU1 p.Gly73Glu VAR_021388 rs104894586
2 MPDU1 p.Leu74Ser VAR_021389 rs104894589
3 MPDU1 p.Leu119Pro VAR_021390 rs104894587

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

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPDU1 NM_004870.3(MPDU1): c.218G> A (p.Gly73Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs104894586 GRCh37 Chromosome 17, 7489312: 7489312
2 MPDU1 NM_004870.3(MPDU1): c.218G> A (p.Gly73Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs104894586 GRCh38 Chromosome 17, 7585994: 7585994
3 MPDU1 NM_004870.3(MPDU1): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs104894587 GRCh37 Chromosome 17, 7490063: 7490063
4 MPDU1 NM_004870.3(MPDU1): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs104894587 GRCh38 Chromosome 17, 7586745: 7586745
5 MPDU1 NM_004870.3(MPDU1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894588 GRCh37 Chromosome 17, 7487182: 7487182
6 MPDU1 NM_004870.3(MPDU1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894588 GRCh38 Chromosome 17, 7583864: 7583864
7 MPDU1 MPDU1, 1-BP DEL, 511C deletion Pathogenic
8 MPDU1 NM_004870.3(MPDU1): c.221T> C (p.Leu74Ser) single nucleotide variant Pathogenic rs104894589 GRCh37 Chromosome 17, 7489315: 7489315
9 MPDU1 NM_004870.3(MPDU1): c.221T> C (p.Leu74Ser) single nucleotide variant Pathogenic rs104894589 GRCh38 Chromosome 17, 7585997: 7585997
10 MPDU1 NM_004870.3(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 GRCh37 Chromosome 17, 7490231: 7490231
11 MPDU1 NM_004870.3(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 GRCh38 Chromosome 17, 7586913: 7586913
12 MPDU1 NM_004870.3(MPDU1): c.43C> T (p.Pro15Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148935720 GRCh38 Chromosome 17, 7583905: 7583905
13 MPDU1 NM_004870.3(MPDU1): c.43C> T (p.Pro15Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148935720 GRCh37 Chromosome 17, 7487223: 7487223
14 MPDU1 NM_004870.3(MPDU1): c.310G> A (p.Gly104Ser) single nucleotide variant Likely pathogenic rs1555570093 GRCh38 Chromosome 17, 7586699: 7586699
15 MPDU1 NM_004870.3(MPDU1): c.310G> A (p.Gly104Ser) single nucleotide variant Likely pathogenic rs1555570093 GRCh37 Chromosome 17, 7490017: 7490017
16 MPDU1 NM_004870.3(MPDU1): c.377A> C (p.Gln126Pro) single nucleotide variant Likely pathogenic rs1555570110 GRCh38 Chromosome 17, 7586766: 7586766
17 MPDU1 NM_004870.3(MPDU1): c.377A> C (p.Gln126Pro) single nucleotide variant Likely pathogenic rs1555570110 GRCh37 Chromosome 17, 7490084: 7490084
18 MPDU1 NM_004870.3(MPDU1): c.477delC (p.Ser160Profs) deletion Uncertain significance rs765585873 GRCh38 Chromosome 17, 7586987: 7586987
19 MPDU1 NM_004870.3(MPDU1): c.477delC (p.Ser160Profs) deletion Uncertain significance rs765585873 GRCh37 Chromosome 17, 7490305: 7490305
20 MPDU1 NM_004870.3(MPDU1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 7583872: 7583872
21 MPDU1 NM_004870.3(MPDU1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 7487190: 7487190
22 MPDU1 NM_004870.3(MPDU1): c.673G> A (p.Gly225Ser) single nucleotide variant Benign/Likely benign rs16956808 GRCh37 Chromosome 17, 7490798: 7490798
23 MPDU1 NM_004870.3(MPDU1): c.673G> A (p.Gly225Ser) single nucleotide variant Benign/Likely benign rs16956808 GRCh38 Chromosome 17, 7587480: 7587480

Expression for Congenital Disorder of Glycosylation, Type if

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

Pathways for Congenital Disorder of Glycosylation, Type if

GO Terms for Congenital Disorder of Glycosylation, Type if

Sources for Congenital Disorder of Glycosylation, Type if

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