CDG2T
MCID: CNG617
MIFTS: 21

Congenital Disorder of Glycosylation, Type Iit (CDG2T)

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, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iit

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

Name: Congenital Disorder of Glycosylation, Type Iit 56 6
Cdg Iit; Cdgiit 56
Cdg Iit 56
Cdgiit 56
Cdg2t 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 56 618885
OMIM Phenotypic Series 56 PS212066

Summaries for Congenital Disorder of Glycosylation, Type Iit

OMIM : 56 Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). (618885)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iit, is also known as cdg iit; cdgiit. An important gene associated with Congenital Disorder of Glycosylation, Type Iit is GALNT2 (Polypeptide N-Acetylgalactosaminyltransferase 2). Affiliated tissues include eye and brain.

Related Diseases for Congenital Disorder of Glycosylation, Type Iit

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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iit

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypotonia
delayed walking
multifocal discharges seen on eeg
absent language
more
Growth Height:
short stature

Abdomen Gastrointestinal:
dysphagia
constipation
feeding problems
incontinence

Skeletal:
joint laxity

Head And Neck Face:
short philtrum
high forehead
elongated face
protruding maxilla

Neurologic Behavioral Psychiatric Manifestations:
autistic features
poor communication
behavioral abnormalities
stereotypic behaviors

Head And Neck Mouth:
large mouth
full lips
tented upper lip

Genitourinary Bladder:
incontinence

Growth Other:
poor overall growth

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
poor eye contact
myopic astigmatism
more
Head And Neck Head:
brachycephaly
microcephaly (in some patients)

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Feet:
sandal gap
small feet

Head And Neck Teeth:
macrodontia

Head And Neck Nose:
high nasal bridge

Skeletal Hands:
small hands

Laboratory Abnormalities:
iron-deficiency anemia
non-glycosylation of apoc-ii in patient plasma
decreased hdl cholesterol decreased fasting triglycerides
low vitamin d

Clinical features from OMIM:

618885

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iit

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iit

Anatomical Context for Congenital Disorder of Glycosylation, Type Iit

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

40
Eye, Brain

Publications for Congenital Disorder of Glycosylation, Type Iit

Articles related to Congenital Disorder of Glycosylation, Type Iit:

# Title Authors PMID Year
1
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. 56 6
32293671 2020
2
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents. 6 56
27508872 2016

Variations for Congenital Disorder of Glycosylation, Type Iit

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALNT2 NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)SNV Pathogenic 873544 1:230338973-230338973 1:230203227-230203227
2 GALNT2 NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)SNV Pathogenic 873545 1:230384977-230384977 1:230249231-230249231
3 GALNT2 NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)SNV Pathogenic 873546 1:230372462-230372462 1:230236716-230236716
4 GALNT2 NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter)duplication Pathogenic 873547 1:230338957-230338958 1:230203211-230203212
5 GALNT2 NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)SNV Pathogenic 873548 1:230379073-230379073 1:230243327-230243327

Expression for Congenital Disorder of Glycosylation, Type Iit

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

Pathways for Congenital Disorder of Glycosylation, Type Iit

GO Terms for Congenital Disorder of Glycosylation, Type Iit

Sources for Congenital Disorder of Glycosylation, Type Iit

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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