MCID: CNG188
MIFTS: 30

Congenital Disorder of Glycosylation, Type if

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Metabolic diseases, Rare diseases, Liver diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 57 13 73
Congenital Disorder of Glycosylation Type 1f 59 29 6
Cdg1f 57 59 75
Congenital Disorder of Glycosylation Type if 59 75
Cdg if 57 75
Cdg-if 59 75
Cdgif 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type if 59
Glycosylation, Congenital Disorder of, Type if 40
Congenital Disorder of Glycosylation 1f 75
Cdg Syndrome Type if 59
Cdg if; Cdgif 57
Mpdu1-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
mpdu1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 ataxia, seizures 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 and eye, and related phenotypes are abnormality of vision and seizures

OMIM : 57 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 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

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 10.0
2 congenital disorder of glycosylation, type in 9.9

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type if

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
5 abnormality of the eye 59 Very frequent (99-80%)
6 microcephaly 32 HP:0000252
7 strabismus 32 HP:0000486
8 nystagmus 32 HP:0000639
9 optic atrophy 32 HP:0000648
10 dry skin 32 HP:0000958
11 hyperkeratosis 32 HP:0000962
12 erythroderma 32 HP:0001019
13 ataxia 32 HP:0001251
14 global developmental delay 32 HP:0001263
15 hypertonia 32 occasional (7.5%) HP:0001276
16 generalized hypotonia 32 HP:0001290
17 absent speech 32 HP:0001344
18 flexion contracture 32 HP:0001371
19 failure to thrive 32 HP:0001508
20 cerebral atrophy 32 HP:0002059
21 abnormality of the coagulation cascade 32 occasional (7.5%) HP:0003256
22 feeding difficulties 32 occasional (7.5%) HP:0011968
23 scaling skin 32 HP:0040189

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


ataxia, seizures, 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 29 MPDU1

Anatomical Context for Congenital Disorder of Glycosylation, Type if

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

41
Skin, Eye

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

Variations for Congenital Disorder of Glycosylation, Type if

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

75
# 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 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPDU1 NM_004870.3(MPDU1): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs104894587 GRCh37 Chromosome 17, 7490063: 7490063
2 MPDU1 NM_004870.3(MPDU1): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs104894587 GRCh38 Chromosome 17, 7586745: 7586745
3 MPDU1 NM_004870.3(MPDU1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894588 GRCh37 Chromosome 17, 7487182: 7487182
4 MPDU1 NM_004870.3(MPDU1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894588 GRCh38 Chromosome 17, 7583864: 7583864
5 MPDU1 MPDU1, 1-BP DEL, 511C deletion Pathogenic
6 MPDU1 NM_004870.3(MPDU1): c.221T> C (p.Leu74Ser) single nucleotide variant Pathogenic rs104894589 GRCh37 Chromosome 17, 7489315: 7489315
7 MPDU1 NM_004870.3(MPDU1): c.221T> C (p.Leu74Ser) single nucleotide variant Pathogenic rs104894589 GRCh38 Chromosome 17, 7585997: 7585997
8 MPDU1 NM_004870.3(MPDU1): c.43C> T (p.Pro15Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148935720 GRCh38 Chromosome 17, 7583905: 7583905
9 MPDU1 NM_004870.3(MPDU1): c.43C> T (p.Pro15Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148935720 GRCh37 Chromosome 17, 7487223: 7487223
10 MPDU1 NM_004870.3(MPDU1): c.673G> A (p.Gly225Ser) single nucleotide variant Benign/Likely benign rs16956808 GRCh38 Chromosome 17, 7587480: 7587480
11 MPDU1 NM_004870.3(MPDU1): c.673G> A (p.Gly225Ser) single nucleotide variant Benign/Likely benign rs16956808 GRCh37 Chromosome 17, 7490798: 7490798
12 MPDU1 NM_004870.3(MPDU1): c.310G> A (p.Gly104Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 7586699: 7586699
13 MPDU1 NM_004870.3(MPDU1): c.310G> A (p.Gly104Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 7490017: 7490017
14 MPDU1 NM_004870.3(MPDU1): c.377A> C (p.Gln126Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 7586766: 7586766
15 MPDU1 NM_004870.3(MPDU1): c.377A> C (p.Gln126Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 7490084: 7490084
16 MPDU1 NM_004870.3(MPDU1): c.477delC (p.Ser160Profs) deletion Uncertain significance GRCh38 Chromosome 17, 7586987: 7586987
17 MPDU1 NM_004870.3(MPDU1): c.477delC (p.Ser160Profs) deletion Uncertain significance GRCh37 Chromosome 17, 7490305: 7490305

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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10 dbSNP
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17 ExPASy
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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