CDG2L
MCID: CNG414
MIFTS: 33

Congenital Disorder of Glycosylation, Type Iil (CDG2L)

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 Iil

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

Name: Congenital Disorder of Glycosylation, Type Iil 57 13 73
Congenital Disorder of Glycosylation Type Iil 12 59 75 15
Congenital Disorder of Glycosylation Type 2l 12 59 29 6
Cdg2l 57 12 59 75
Cdg Iil 57 12 75
Cdg Syndrome Type Iil 12 59
Cog6-Cgd 12 59
Cdg-Iil 59 75
Cdgiil 57 75
Glycosylation, Congenital Disorder of, Type Iil 40
Congenital Disorder of Glycosylation 2l 75
Cdg Iil; Cdgiil 57
Cdgiidl 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in infancy often occurs
variable severity and manifestations


HPO:

32
congenital disorder of glycosylation, type iil:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iil

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 2L: A multisystem disorder 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. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iil, also known as congenital disorder of glycosylation type iil, is related to congenital disorder of glycosylation, type iih and congenital disorder of glycosylation, type iim, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iil is COG6 (Component Of Oligomeric Golgi Complex 6), and among its related pathways/superpathways is Vesicle-mediated transport. Affiliated tissues include liver, t cells and skin, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG6 on chromosome 13q14.11.

OMIM : 57 CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). (614576)

Related Diseases for Congenital Disorder of Glycosylation, Type Iil

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

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iih 9.8 COG6 TF
2 congenital disorder of glycosylation, type iim 9.8 COG6 TF
3 congenital disorder of glycosylation, type in 9.7 COG6 TF

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iil

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
cerebral atrophy
enlarged ventricles
delayed psychomotor development
seizures (in some patients)

Abdomen Spleen:
splenomegaly

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
hyperkeratosis
hypohidrosis

Immunology:
recurrent infections
hypogammaglobulinemia
t-cell dysfunction
primary combined immunodeficiency
granulocyte dysfunction

Skeletal Hands:
postaxial polydactyly (rare)

Abdomen Gastrointestinal:
inflammatory bowel disease
enteropathy
diarrhea, recurrent
anal anteposition (rare)

Head And Neck Eyes:
broad palpebral fissures
epicanthal fold

Growth Other:
failure to thrive
intrauterine growth retardation

Abdomen Liver:
hepatomegaly
cholestasis
micronodular cirrhosis
macrovesicular steatosis

Hematology:
anemia
pancytopenia
abnormal bleeding
thrombocytopenia
hyperbilirubinemia
more
Head And Neck Face:
retrognathia
dysmorphic facial features, nonspecific, variable

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
abnormal liver enzymes
abnormal isoelectric focusing of serum transferrin (type 2 pattern)

Cardiovascular Heart:
congenital septal defects (in some patients)

Genitourinary Kidneys:
proximal tubulopathy (rare)


Clinical features from OMIM:

614576

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

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 failure to thrive 32 HP:0001508
4 global developmental delay 32 HP:0001263
5 hepatomegaly 32 occasional (7.5%) HP:0002240
6 microcephaly 32 HP:0000252
7 immunodeficiency 32 HP:0002721
8 anemia 32 HP:0001903
9 pancytopenia 32 HP:0001876
10 abnormal bleeding 32 HP:0001892
11 hyperkeratosis 32 HP:0000962
12 retrognathia 32 occasional (7.5%) HP:0000278
13 epicanthus 32 HP:0000286
14 hypohidrosis 32 HP:0000966
15 intrauterine growth retardation 32 HP:0001511
16 inflammation of the large intestine 32 occasional (7.5%) HP:0002037
17 thrombocytopenia 32 HP:0001873
18 decreased antibody level in blood 32 occasional (7.5%) HP:0004313
19 ventriculomegaly 32 HP:0002119
20 impaired t cell function 32 occasional (7.5%) HP:0005435
21 recurrent infections 32 occasional (7.5%) HP:0002719
22 cholestasis 32 HP:0001396
23 chronic diarrhea 32 occasional (7.5%) HP:0002028
24 hyperbilirubinemia 32 HP:0002904
25 cerebral atrophy 32 HP:0002059
26 proximal tubulopathy 32 occasional (7.5%) HP:0000114
27 loss of consciousness 32 HP:0007185
28 muscular hypotonia of the trunk 32 occasional (7.5%) HP:0008936
29 type ii transferrin isoform profile 32 HP:0012301
30 macrovesicular hepatic steatosis 32 occasional (7.5%) HP:0001403
31 micronodular cirrhosis 32 occasional (7.5%) HP:0001413
32 postaxial polydactyly 32 occasional (7.5%) HP:0100259
33 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910

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


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iil

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iil

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2l 29 COG6

Anatomical Context for Congenital Disorder of Glycosylation, Type Iil

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

41
Liver, T Cells, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iil

Variations for Congenital Disorder of Glycosylation, Type Iil

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

75
# Symbol AA change Variation ID SNP ID
1 COG6 p.Gly549Val VAR_068240 rs387906959

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

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG6 NM_001145079.1(COG6): c.1646G> T (p.Gly549Val) single nucleotide variant Pathogenic rs387906959 GRCh37 Chromosome 13, 40297531: 40297531
2 COG6 NM_001145079.1(COG6): c.1646G> T (p.Gly549Val) single nucleotide variant Pathogenic rs387906959 GRCh38 Chromosome 13, 39723394: 39723394
3 COG6 NM_020751.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 GRCh37 Chromosome 13, 40261749: 40261749
4 COG6 NM_020751.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 GRCh38 Chromosome 13, 39687612: 39687612
5 COG6 NM_020751.2(COG6): c.1167-24A> G single nucleotide variant Likely pathogenic rs730882236 GRCh38 Chromosome 13, 39699477: 39699477
6 COG6 NM_020751.2(COG6): c.1167-24A> G single nucleotide variant Likely pathogenic rs730882236 GRCh37 Chromosome 13, 40273614: 40273614
7 COG6 NM_001145079.1(COG6): c.112A> T (p.Lys38Ter) single nucleotide variant Pathogenic rs794726950 GRCh37 Chromosome 13, 40229975: 40229975
8 COG6 NM_001145079.1(COG6): c.112A> T (p.Lys38Ter) single nucleotide variant Pathogenic rs794726950 GRCh38 Chromosome 13, 39655838: 39655838
9 COG6 NM_001145079.1(COG6): c.1075-1G> T single nucleotide variant Pathogenic rs781641023 GRCh37 Chromosome 13, 40268770: 40268770
10 COG6 NM_001145079.1(COG6): c.1075-1G> T single nucleotide variant Pathogenic rs781641023 GRCh38 Chromosome 13, 39694633: 39694633
11 COG6 NM_020751.2(COG6): c.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 GRCh38 Chromosome 13, 39660832: 39660832
12 COG6 NM_020751.2(COG6): c.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 GRCh37 Chromosome 13, 40234969: 40234969
13 COG6 NM_020751.2(COG6): c.1693-7_1693-6delTA deletion Benign/Likely benign rs201839861 GRCh38 Chromosome 13, 39724501: 39724502
14 COG6 NM_020751.2(COG6): c.1693-7_1693-6delTA deletion Benign/Likely benign rs201839861 GRCh37 Chromosome 13, 40298638: 40298639
15 COG6 NM_020751.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 GRCh37 Chromosome 13, 40229928: 40229928
16 COG6 NM_020751.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 GRCh38 Chromosome 13, 39655791: 39655791
17 COG6 NM_020751.2(COG6): c.388C> T (p.Gln130Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 40239251: 40239251
18 COG6 NM_020751.2(COG6): c.388C> T (p.Gln130Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 39665114: 39665114
19 COG6 NM_020751.2(COG6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs752232501 GRCh38 Chromosome 13, 39655727: 39655727
20 COG6 NM_020751.2(COG6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs752232501 GRCh37 Chromosome 13, 40229864: 40229864
21 COG6 NM_001145079.1(COG6): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic rs200177031 GRCh37 Chromosome 13, 40251687: 40251687
22 COG6 NM_001145079.1(COG6): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic rs200177031 GRCh38 Chromosome 13, 39677550: 39677550
23 COG6 NM_001145079.1(COG6): c.1746+2T> G single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 39724563: 39724563
24 COG6 NM_001145079.1(COG6): c.1746+2T> G single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 40298700: 40298700
25 COG6 NM_001145079.1(COG6): c.785A> G (p.Tyr262Cys) single nucleotide variant Pathogenic rs756826030 GRCh38 Chromosome 13, 39682261: 39682261
26 COG6 NM_001145079.1(COG6): c.785A> G (p.Tyr262Cys) single nucleotide variant Pathogenic rs756826030 GRCh37 Chromosome 13, 40256398: 40256398
27 COG6 NM_001145079.1(COG6): c.1239dup (p.Phe414Ilefs) duplication Pathogenic GRCh38 Chromosome 13, 39699573: 39699573
28 COG6 NM_001145079.1(COG6): c.1239dup (p.Phe414Ilefs) duplication Pathogenic GRCh37 Chromosome 13, 40273710: 40273710
29 COG6 NM_020751.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 GRCh38 Chromosome 13, 39727482: 39727482
30 COG6 NM_020751.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 GRCh37 Chromosome 13, 40301619: 40301619
31 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign GRCh37 Chromosome 13, 40298637: 40298639
32 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign GRCh38 Chromosome 13, 39724500: 39724502
33 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh38 Chromosome 13, 39655849: 39655849
34 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh37 Chromosome 13, 40229986: 40229986
35 COG6 NM_020751.2(COG6): c.730G> A (p.Val244Ile) single nucleotide variant Uncertain significance rs147560202 GRCh38 Chromosome 13, 39682206: 39682206
36 COG6 NM_020751.2(COG6): c.730G> A (p.Val244Ile) single nucleotide variant Uncertain significance rs147560202 GRCh37 Chromosome 13, 40256343: 40256343
37 COG6 NM_020751.2(COG6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance rs747232819 GRCh37 Chromosome 13, 40325217: 40325217
38 COG6 NM_020751.2(COG6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance rs747232819 GRCh38 Chromosome 13, 39751080: 39751080
39 COG6 NM_020751.2(COG6): c.851C> G (p.Ala284Gly) single nucleotide variant not provided rs148869108 GRCh38 Chromosome 13, 39687565: 39687565
40 COG6 NM_020751.2(COG6): c.851C> G (p.Ala284Gly) single nucleotide variant not provided rs148869108 GRCh37 Chromosome 13, 40261702: 40261702

Expression for Congenital Disorder of Glycosylation, Type Iil

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

Pathways for Congenital Disorder of Glycosylation, Type Iil

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 COG6 TF

GO Terms for Congenital Disorder of Glycosylation, Type Iil

Sources for Congenital Disorder of Glycosylation, Type Iil

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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