CDG2R
MCID: CNG615
MIFTS: 18

Congenital Disorder of Glycosylation, Type Iir (CDG2R)

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 Iir

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

Name: Congenital Disorder of Glycosylation, Type Iir 56 6
Cdg Iir; Cdgiir 56
Cdg Iir 56
Cdgiir 56
Cdg2r 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
onset soon after birth or in the first months of life
three patients from 2 unrelated families have been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 301045
OMIM Phenotypic Series 56 PS212066

Summaries for Congenital Disorder of Glycosylation, Type Iir

OMIM : 56 Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern (summary by Rujano et al., 2017). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). (301045)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iir, is also known as cdg iir; cdgiir. An important gene associated with Congenital Disorder of Glycosylation, Type Iir is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2). Affiliated tissues include liver and t cells.

Related Diseases for Congenital Disorder of Glycosylation, Type Iir

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 Iir

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Head And Neck Face:
micrognathia
dysmorphic features, mild (in some patients)

Skin Nails Hair Skin:
jaundice

Neurologic Central Nervous System:
cognitive impairment, mild

Hematology:
variable decrease in coagulation factors

Abdomen Liver:
hepatomegaly
hepatic steatosis
micronodular cirrhosis
liver dysfunction
lipid accumulation
more
Head And Neck Ears:
low-set ears

Immunology:
recurrent infections
hypogammaglobulinemia
poor antibody response
low cd4+ t cells

Muscle Soft Tissue:
ascites (in some patients)

Laboratory Abnormalities:
abnormal glycosylation of serum transferrin, type 2 pattern
increased levels of mono-, di-, and trisialotransferrin
decreased levels of tetrasialotransferrin

Clinical features from OMIM:

301045

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iir

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iir

Anatomical Context for Congenital Disorder of Glycosylation, Type Iir

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

40
Liver, T Cells

Publications for Congenital Disorder of Glycosylation, Type Iir

Articles related to Congenital Disorder of Glycosylation, Type Iir:

# Title Authors PMID Year
1
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. 6 56
29127204 2017

Variations for Congenital Disorder of Glycosylation, Type Iir

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6AP2 NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser)SNV Pathogenic 869366 X:40450610-40450610 X:40591358-40591358
2 ATP6AP2 NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His)SNV Uncertain significance 389602 rs1057523485 X:40450529-40450529 X:40591277-40591277

Expression for Congenital Disorder of Glycosylation, Type Iir

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

Pathways for Congenital Disorder of Glycosylation, Type Iir

GO Terms for Congenital Disorder of Glycosylation, Type Iir

Sources for Congenital Disorder of Glycosylation, Type Iir

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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