MCID: CNG383
MIFTS: 26

Congenital Disorder of Glycosylation, Type Iik

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Skin diseases, Cardiovascular diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Muscle diseases, Endocrine 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 57 13 73
Congenital Disorder of Glycosylation Type 2k 59 29 6
Cdg2k 57 59 75
Congenital Disorder of Glycosylation Type Iik 59 75
Cdg Iik 57 75
Cdg-Iik 59 75
Cdgiik 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iik 59
Glycosylation, Congenital Disorder of, Type Iik 40
Congenital Disorder of Glycosylation 2k 75
Cdg Syndrome Type Iik 59
Cdg Iik; Cdgiik 57
Tmem165-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
tmem165-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
congenital disorder of glycosylation, type iik:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iik

UniProtKB/Swiss-Prot : 75 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, is also known as congenital disorder of glycosylation type 2k, and has symptoms including muscle weakness An important gene associated with Congenital Disorder of Glycosylation, Type Iik is TMEM165 (Transmembrane Protein 165). Affiliated tissues include eye, liver and bone, and related phenotypes are malar flattening and low-set ears

OMIM : 57 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 in 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 Iq
Congenital Disorder of Glycosylation, Type Io 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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iik

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 occasional (7.5%) HP:0000272
2 low-set ears 32 HP:0000369
3 seizures 32 occasional (7.5%) HP:0001250
4 muscle weakness 32 HP:0001324
5 failure to thrive 32 HP:0001508
6 global developmental delay 32 HP:0001263
7 hepatomegaly 32 HP:0002240
8 short stature 32 HP:0004322
9 osteoporosis 32 HP:0000939
10 elevated serum creatine phosphokinase 32 HP:0003236
11 epiphyseal dysplasia 32 HP:0002656
12 elevated hepatic transaminases 32 HP:0002910
13 thrombocytopenia 32 HP:0001873
14 joint laxity 32 HP:0001388
15 midface retrusion 32 occasional (7.5%) HP:0011800
16 amelogenesis imperfecta 32 occasional (7.5%) HP:0000705
17 kyphoscoliosis 32 HP:0002751
18 postnatal microcephaly 32 HP:0005484
19 generalized hypotonia 32 HP:0001290
20 posteriorly rotated ears 32 HP:0000358
21 metaphyseal dysplasia 32 HP:0100255
22 abnormality of the cerebral white matter 32 HP:0002500
23 diaphyseal dysplasia 32 HP:0100252
24 unexplained fevers 32 occasional (7.5%) HP:0001955

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 29 TMEM165

Anatomical Context for Congenital Disorder of Glycosylation, Type Iik

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

41
Eye, Liver, Bone

Publications for Congenital Disorder of Glycosylation, Type Iik

Variations for Congenital Disorder of Glycosylation, Type Iik

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

75
# 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 GRCh38 Chromosome 4, 55424637: 55424637
10 TMEM165 NM_018475.4(TMEM165): c.892A> G (p.Arg298Gly) single nucleotide variant Uncertain significance 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

Sources for Congenital Disorder of Glycosylation, Type Iik

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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