CDG2K
MCID: CNG383
MIFTS: 38

Congenital Disorder of Glycosylation, Type Iik (CDG2K)

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 Iik

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

Name: Congenital Disorder of Glycosylation, Type Iik 58 13 74
Congenital Disorder of Glycosylation Type Iik 12 60 76 15
Congenital Disorder of Glycosylation Type 2k 12 60 30 6
Cdg2k 58 12 60 76
Cdg Iik 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iik 12 60
Cdg Syndrome Type Iik 12 60
Cdg-Iik 60 76
Cdgiik 58 76
Glycosylation, Congenital Disorder of, Type Iik 41
Congenital Disorder of Glycosylation 2k 76
Cdg Iik; Cdgiik 58
Tmem165-Cdg 60
Cdgiidk 12

Characteristics:

Orphanet epidemiological data:

60
tmem165-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in early childhood
five patients have been reported (last curated december 2014)


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iik

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2K: An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under- glycosylated serum glycoproteins and a wide variety of clinical features. 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 Iik, also known as congenital disorder of glycosylation type iik, is related to congenital disorder of glycosylation, type iio and epileptic encephalopathy, early infantile, 36, and has symptoms including muscle weakness An important gene associated with Congenital Disorder of Glycosylation, Type Iik is TMEM165 (Transmembrane Protein 165), and among its related pathways/superpathways are Synthesis of substrates in N-glycan biosythesis and Amino sugar and nucleotide sugar metabolism. Affiliated tissues include eye, liver and bone, and related phenotypes are malar flattening and seizures

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of TMEM165 on chromosome 4q12.

OMIM : 58 CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern (summary by Foulquier et al., 2012). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). (614727)

Related Diseases for Congenital Disorder of Glycosylation, Type Iik

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

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iio 9.8 ATP6V0A2 PGM1
2 epileptic encephalopathy, early infantile, 36 9.8 DOLK PMM2 SLC35C1
3 congenital disorder of glycosylation, type iip 9.8 ATP6V0A2 PGM1
4 congenital disorder of glycosylation, type iif 9.7 PGM1 PMM2
5 congenital disorder of glycosylation, type iii 9.7 APOC3 PMM2
6 congenital disorder of glycosylation, type iim 9.2 APOC3 ATP6V0A2 PGM1 PMM2
7 congenital disorder of glycosylation, type ii 8.8 APOC3 ATP6V0A2 GOLPH3 PMM2 SLC35C1 TMEM165
8 congenital disorder of glycosylation, type in 8.5 APOC3 ATP6V0A2 DOLK PGM1 PMM2 SLC35C1

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



Diseases related to Congenital Disorder of Glycosylation, Type Iik

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iik

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

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 occasional (7.5%) HP:0000272
2 seizures 33 occasional (7.5%) HP:0001250
3 midface retrusion 33 occasional (7.5%) HP:0011800
4 amelogenesis imperfecta 33 occasional (7.5%) HP:0000705
5 unexplained fevers 33 occasional (7.5%) HP:0001955
6 low-set ears 33 HP:0000369
7 muscle weakness 33 HP:0001324
8 failure to thrive 33 HP:0001508
9 global developmental delay 33 HP:0001263
10 hepatomegaly 33 HP:0002240
11 short stature 33 HP:0004322
12 osteoporosis 33 HP:0000939
13 epiphyseal dysplasia 33 HP:0002656
14 elevated hepatic transaminase 33 HP:0002910
15 thrombocytopenia 33 HP:0001873
16 joint laxity 33 HP:0001388
17 kyphoscoliosis 33 HP:0002751
18 generalized hypotonia 33 HP:0001290
19 postnatal microcephaly 33 HP:0005484
20 posteriorly rotated ears 33 HP:0000358
21 metaphyseal dysplasia 33 HP:0100255
22 abnormality of the cerebral white matter 33 HP:0002500
23 diaphyseal dysplasia 33 HP:0100252
24 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive
growth retardation

Growth Weight:
short stature

Skeletal Limbs:
epiphyseal dysplasia
metaphyseal dysplasia
diaphyseal dysplasia
hypoplasia of the femoral heads (1 patient)

Skeletal Spine:
kyphoscoliosis
dysplastic vertebrae

Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes
n-glycosylation defect
decreased levels of certain coagulation factors

Head And Neck Face:
dysmorphic features
midface hypoplasia (1 patient)

Head And Neck Eyes:
eye abnormalities

Chest Ribs Sternum Clavicles And Scapulae:
dysplastic ribs (1 patient)

Skeletal Feet:
dysplastic fourth metatarsals (1 patient)

Muscle Soft Tissue:
muscle weakness
hypotonia
abnormal fat distribution

Abdomen Liver:
hepatomegaly

Skeletal:
osteoporosis
joint laxity

Hematology:
thrombocytopenia

Neurologic Central Nervous System:
delayed psychomotor development
white matter abnormalities
seizures (1 patient)

Abdomen Gastrointestinal:
feeding problems in infancy

Head And Neck Head:
microcephaly, acquired

Head And Neck Teeth:
amelogenesis imperfecta (1 patient)

Skeletal Hands:
dysplastic fourth metacarpals (1 patient)

Metabolic Features:
unexplained fevers (2 patients)

Clinical features from OMIM:

614727

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


muscle weakness

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iik

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iik

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2k 30 TMEM165

Anatomical Context for Congenital Disorder of Glycosylation, Type Iik

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

42
Eye, Liver, Bone, Skin

Publications for Congenital Disorder of Glycosylation, Type Iik

Articles related to Congenital Disorder of Glycosylation, Type Iik:

# Title Authors Year
1
TMEM165 deficiency causes a congenital disorder of glycosylation. ( 22683087 )
2012

Variations for Congenital Disorder of Glycosylation, Type Iik

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

76
# Symbol AA change Variation ID SNP ID
1 TMEM165 p.Arg126Cys VAR_068446 rs387907222
2 TMEM165 p.Arg126His VAR_068447 rs387907221
3 TMEM165 p.Gly304Arg VAR_068448 rs886037631

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM165 NM_018475.4(TMEM165): c.792+182G> A single nucleotide variant Pathogenic rs793888506 GRCh37 Chromosome 4, 56284334: 56284334
2 TMEM165 NM_018475.4(TMEM165): c.792+182G> A single nucleotide variant Pathogenic rs793888506 GRCh38 Chromosome 4, 55418167: 55418167
3 TMEM165 NM_018475.4(TMEM165): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs387907221 GRCh37 Chromosome 4, 56277950: 56277950
4 TMEM165 NM_018475.4(TMEM165): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs387907221 GRCh38 Chromosome 4, 55411783: 55411783
5 TMEM165 NM_018475.4(TMEM165): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs387907222 GRCh37 Chromosome 4, 56277949: 56277949
6 TMEM165 NM_018475.4(TMEM165): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs387907222 GRCh38 Chromosome 4, 55411782: 55411782
7 TMEM165 NM_018475.4(TMEM165): c.910G> A (p.Gly304Arg) single nucleotide variant Pathogenic rs886037631 GRCh37 Chromosome 4, 56291554: 56291554
8 TMEM165 NM_018475.4(TMEM165): c.910G> A (p.Gly304Arg) single nucleotide variant Pathogenic rs886037631 GRCh38 Chromosome 4, 55425387: 55425387
9 TMEM165 NM_018475.4(TMEM165): c.892A> G (p.Arg298Gly) single nucleotide variant Uncertain significance rs1310344895 GRCh38 Chromosome 4, 55424637: 55424637
10 TMEM165 NM_018475.4(TMEM165): c.892A> G (p.Arg298Gly) single nucleotide variant Uncertain significance rs1310344895 GRCh37 Chromosome 4, 56290804: 56290804

Expression for Congenital Disorder of Glycosylation, Type Iik

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

Pathways for Congenital Disorder of Glycosylation, Type Iik

GO Terms for Congenital Disorder of Glycosylation, Type Iik

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

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 8.8 ATP6V0A2 GOLPH3 TMEM165

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

# Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation GO:0006487 8.62 PMM2 TMEM165

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

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 8.62 PGM1 PMM2

Sources for Congenital Disorder of Glycosylation, Type Iik

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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