CDG1F
MCID: CNG188
MIFTS: 30

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 57 13 72
Congenital Disorder of Glycosylation Type 1f 59 29 6
Cdg1f 57 59 74
Congenital Disorder of Glycosylation Type if 59 74
Congenital Disorder of Glycosylation 1f 12 74
Cdg if 57 74
Cdg-if 59 74
Cdgif 57 74
Carbohydrate Deficient Glycoprotein Syndrome Type if 59
Glycosylation, Congenital Disorder of, Type if 40
Congenital Disorder of Glycosylation if 12
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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080558
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 73 C1836669
Orphanet 59 ORPHA79323
MedGen 42 C1836669
UMLS 72 C1836669

Summaries for Congenital Disorder of Glycosylation, Type if

UniProtKB/Swiss-Prot : 74 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 and eye, and related phenotypes are seizures and muscular hypotonia

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has material basis in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.

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 Disorder of Multiple Glycosylation 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 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 10.3
2 congenital disorder of glycosylation, type in 10.0
3 congenital disorders of n-linked glycosylation and multiple pathway 10.0

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type if

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

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

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

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 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 PMID Year
1
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). 38 8 71
11733556 2001
2
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. 8 71
11733564 2001

Variations for Congenital Disorder of Glycosylation, Type if

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

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MPDU1 NM_004870.4(MPDU1): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs104894587 17:7490063-7490063 17:7586745-7586745
2 MPDU1 NM_004870.4(MPDU1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894588 17:7487182-7487182 17:7583864-7583864
3 MPDU1 MPDU1, 1-BP DEL, 511C deletion Pathogenic
4 MPDU1 NM_004870.4(MPDU1): c.221T> C (p.Leu74Ser) single nucleotide variant Pathogenic rs104894589 17:7489315-7489315 17:7585997-7585997
5 MPDU1 NM_004870.4(MPDU1): c.310G> A (p.Gly104Ser) single nucleotide variant Likely pathogenic rs1555570093 17:7490017-7490017 17:7586699-7586699
6 MPDU1 NM_004870.4(MPDU1): c.377A> C (p.Gln126Pro) single nucleotide variant Likely pathogenic rs1555570110 17:7490084-7490084 17:7586766-7586766
7 MPDU1 NM_004870.4(MPDU1): c.218G> A (p.Gly73Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs104894586 17:7489312-7489312 17:7585994-7585994
8 MPDU1 NM_004870.4(MPDU1): c.43C> T (p.Pro15Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148935720 17:7487223-7487223 17:7583905-7583905
9 MPDU1 NM_004870.4(MPDU1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance 17:7487190-7487190 17:7583872-7583872
10 MPDU1 NM_004870.4(MPDU1): c.619-2A> G single nucleotide variant Uncertain significance 17:7490742-7490742 17:7587424-7587424
11 MPDU1 NM_004870.4(MPDU1): c.477del (p.Ser160fs) deletion Uncertain significance rs765585873 17:7490305-7490305 17:7586987-7586987
12 MPDU1 NM_004870.4(MPDU1): c.673G> A (p.Gly225Ser) single nucleotide variant Benign/Likely benign rs16956808 17:7490798-7490798 17:7587480-7587480
13 MPDU1 NM_004870.4(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 17:7490231-7490231 17:7586913-7586913

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

74
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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