CDG2P
MCID: CNG504
MIFTS: 40

Congenital Disorder of Glycosylation, Type Iip (CDG2P)

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 Iip

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

Name: Congenital Disorder of Glycosylation, Type Iip 58 76 30 6
Cdg2p 58 12 60 76
Congenital Disorder of Glycosylation Type Iip 12 60 15
Cdg Iip 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iip 12 60
Congenital Disorder of Glycosylation Type 2p 12 60
Cdg Syndrome Type Iip 12 60
Tmem199-Cdg 12 60
Cdg-Iip 60 76
Cdgiip 58 76
Congenital Disorder of Glycosylation 2p 76
Cdg Iip; Cdgiip 58
Cdgiidp 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in adolescence
mild disorder
some laboratory abnormalities may fluctuate or improve with time
four patients from 3 unrelated families have been reported (last curated february 2016)


HPO:

33
congenital disorder of glycosylation, type iip:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iip

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2P: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders 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. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iip, also known as cdg2p, is related to liver disease and congenital disorder of glycosylation, type il. An important gene associated with Congenital Disorder of Glycosylation, Type Iip is TMEM199 (Transmembrane Protein 199), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include liver, and related phenotypes are global developmental delay and generalized hypotonia

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2.

OMIM : 58 Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066). (616829)

Related Diseases for Congenital Disorder of Glycosylation, Type Iip

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 liver disease 10.2
2 congenital disorder of glycosylation, type il 10.1 ALG9 ATP6V0A2
3 congenital disorder of glycosylation, type ii 10.0 ATP6V0A2 MAN1B1 TMEM199
4 congenital disorder of glycosylation, type iif 10.0 MAN1B1 PGM1
5 congenital disorder of glycosylation, type iik 9.9 ATP6V0A2 PGM1
6 epileptic encephalopathy, early infantile, 36 9.9 ALG1 ALG6
7 tick infestation 9.9 ALPL ALPP
8 congenital disorder of glycosylation, type iim 9.9 ATP6V0A2 MAN1B1 PGM1
9 hypophosphatasia 9.9 ALPL ALPP
10 hypophosphatasia, infantile 9.8 ALPL ALPP
11 congenital disorder of glycosylation, type iio 9.7 ATP6AP1 ATP6V0A2 MAN1B1 PGM1
12 testis seminoma 9.6 ALPI ALPL ALPP
13 congenital disorder of glycosylation, type in 8.7 ALG1 ALG3 ALG6 ALG8 ALG9 ATP6AP1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iip:



Diseases related to Congenital Disorder of Glycosylation, Type Iip

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iip

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 generalized hypotonia 33 occasional (7.5%) HP:0001290
3 hepatic steatosis 33 very rare (1%) HP:0001397
4 hypercholesterolemia 33 very rare (1%) HP:0003124
5 elevated alkaline phosphatase 33 very rare (1%) HP:0003155
6 abnormal protein n-linked glycosylation 33 very rare (1%) HP:0012347
7 abnormal protein o-linked glycosylation 33 very rare (1%) HP:0012358
8 elevated hepatic transaminase 33 very rare (1%) HP:0002910
9 increased ldl cholesterol concentration 33 very rare (1%) HP:0003141
10 decreased liver function 33 HP:0001410
11 decreased serum ceruloplasmin 33 HP:0010837

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypercholesterolemia
increased alkaline phosphatase
abnormal liver enzymes
type 2 pattern of transferrin, indicating n-glycosylation defect
abnormal apoc-iii glycosylation, indicating o-glycosylation defect
more
Muscle Soft Tissue:
hypotonia (1 patient)

Hematology:
decreased serum coagulation factors

Abdomen Liver:
liver dysfunction
liver steatosis
copper accumulation (in some patients)
liver fibrosis, mild

Neurologic Central Nervous System:
delayed psychomotor development (1 patient)

Clinical features from OMIM:

616829

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iip

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iip

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iip 30 TMEM199

Anatomical Context for Congenital Disorder of Glycosylation, Type Iip

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

42
Liver

Publications for Congenital Disorder of Glycosylation, Type Iip

Variations for Congenital Disorder of Glycosylation, Type Iip

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

76
# Symbol AA change Variation ID SNP ID
1 TMEM199 p.Ala7Gly VAR_075770 rs369488804
2 TMEM199 p.Ala14Pro VAR_075771 rs869025586
3 TMEM199 p.Arg31Pro VAR_075772 rs782531869

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh38 Chromosome 17, 28357762: 28357762
2 TMEM199 NM_152464.2(TMEM199): c.92G> C (p.Arg31Pro) single nucleotide variant Pathogenic rs782531869 GRCh37 Chromosome 17, 26684785: 26684785
3 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh38 Chromosome 17, 28357690: 28357690
4 TMEM199 NM_152464.2(TMEM199): c.20C> A (p.Ala7Glu) single nucleotide variant Pathogenic rs369488804 GRCh37 Chromosome 17, 26684713: 26684713
5 TMEM199 NM_152464.2(TMEM199): c.40G> C (p.Ala14Pro) single nucleotide variant Pathogenic rs869025586 GRCh38 Chromosome 17, 28357710: 28357710
6 TMEM199 NM_152464.2(TMEM199): c.40G> C (p.Ala14Pro) single nucleotide variant Pathogenic rs869025586 GRCh37 Chromosome 17, 26684733: 26684733
7 TMEM199 NM_152464.2(TMEM199): c.376-1G> A single nucleotide variant Pathogenic rs869025587 GRCh37 Chromosome 17, 26687551: 26687551
8 TMEM199 NM_152464.2(TMEM199): c.376-1G> A single nucleotide variant Pathogenic rs869025587 GRCh38 Chromosome 17, 28360528: 28360528

Expression for Congenital Disorder of Glycosylation, Type Iip

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

Pathways for Congenital Disorder of Glycosylation, Type Iip

Pathways related to Congenital Disorder of Glycosylation, Type Iip according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 ALG1 ALG3 ALG6 ALG8 ALG9 ALPG
2
Show member pathways
13.51 ALG1 ALG3 ALG6 ALG8 ALG9 ALPG
3
Show member pathways
12.77 ALG1 ALG3 ALG6 ALG8 ALG9 MAN1B1
4
Show member pathways
12.01 ALG1 ALG3 ALG6 ALG8 ALG9
5
Show member pathways
11.91 ALPG ALPI ALPL ALPP
6
Show member pathways
11.63 ALPG ALPI ALPL
7
Show member pathways
10.92 ALPG ALPI ALPL ALPP
8
Show member pathways
10.89 ALG1 ALG3 ALG6 ALG8 ALG9 MAN1B1
9 10.46 ALPG ALPI ALPL ALPP

GO Terms for Congenital Disorder of Glycosylation, Type Iip

Cellular components related to Congenital Disorder of Glycosylation, Type Iip according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.56 ALG1 ALG3 ALG6 ALG8 ALG9 ATP6AP1
2 anchored component of membrane GO:0031225 9.46 ALPG ALPI ALPL ALPP
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.26 ATP6V0A2 TMEM199
4 endoplasmic reticulum membrane GO:0005789 9.23 ALG1 ALG3 ALG6 ALG8 ALG9 ATP6AP1
5 membrane GO:0016020 10.13 ALG1 ALG3 ALG6 ALG8 ALG9 ALPG

Biological processes related to Congenital Disorder of Glycosylation, Type Iip according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.67 ALPG ALPI ALPL ALPP
2 protein glycosylation GO:0006486 9.63 ALG1 ALG3 ALG6 ALG8 ALG9 MAN1B1
3 cellular iron ion homeostasis GO:0006879 9.58 ATP6AP1 ATP6V0A2 TMEM199
4 protein N-linked glycosylation GO:0006487 9.48 ALG6 ALG8
5 transferrin transport GO:0033572 9.46 ATP6AP1 ATP6V0A2
6 ATP hydrolysis coupled proton transport GO:0015991 9.43 ATP6AP1 ATP6V0A2
7 cellular response to increased oxygen levels GO:0036295 9.43 ATP6AP1 ATP6V0A2 TMEM199
8 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.32 ALG6 ALG8
9 mannosylation GO:0097502 9.26 ALG1 ALG3 ALG8 ALG9
10 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.02 ALG1 ALG3 ALG6 ALG8 ALG9

Molecular functions related to Congenital Disorder of Glycosylation, Type Iip according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.65 ALPI ALPP PGM1
2 phosphatase activity GO:0016791 9.56 ALPG ALPI ALPL ALPP
3 transferase activity, transferring hexosyl groups GO:0016758 9.46 ALG6 ALG8
4 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.43 ATP6AP1 ATP6V0A2
5 mannosyltransferase activity GO:0000030 9.4 ALG1 ALG9
6 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.37 ALG6 ALG8
7 transferase activity, transferring glycosyl groups GO:0016757 9.35 ALG1 ALG3 ALG6 ALG8 ALG9
8 alpha-1,3-mannosyltransferase activity GO:0000033 9.32 ALG3 ALG8
9 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 9.16 ALG6 ALG8
10 alkaline phosphatase activity GO:0004035 8.92 ALPG ALPI ALPL ALPP

Sources for Congenital Disorder of Glycosylation, Type Iip

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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