CDG2L
MCID: CNG414
MIFTS: 31

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 58 13 74
Congenital Disorder of Glycosylation Type Iil 12 60 76 15
Congenital Disorder of Glycosylation Type 2l 12 60 30 6
Cdg2l 58 12 60 76
Cdg Iil 58 12 76
Cdg Syndrome Type Iil 12 60
Cog6-Cgd 12 60
Cdg-Iil 60 76
Cdgiil 58 76
Glycosylation, Congenital Disorder of, Type Iil 41
Congenital Disorder of Glycosylation 2l 76
Cdg Iil; Cdgiil 58
Cdgiidl 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
congenital disorder of glycosylation, type iil:
Clinical modifier 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 : 76 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, is also known as congenital disorder of glycosylation type iil, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iil is COG6 (Component Of Oligomeric Golgi Complex 6). Affiliated tissues include liver, t cells and skin, and related phenotypes are hepatomegaly and retrognathia

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 : 58 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 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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iil

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

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

Symptoms via clinical synopsis from OMIM:

58
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

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 30 COG6

Anatomical Context for Congenital Disorder of Glycosylation, Type Iil

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

42
Liver, T Cells, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iil

Articles related to Congenital Disorder of Glycosylation, Type Iil:

# Title Authors Year
1
Key features and clinical variability of COG6-CDG. ( 26260076 )
2015
2
Variable phenotypic expression of COG6 mutations. ( 24667118 )
2014
3
Expanding the clinical phenotype of COG6 deficiency. ( 24667119 )
2014
4
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. ( 23606727 )
2013
5
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. ( 23430903 )
2012
6
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. ( 20605848 )
2010

Variations for Congenital Disorder of Glycosylation, Type Iil

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

76
# 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 38)
# 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.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 GRCh38 Chromosome 13, 39660832: 39660832
6 COG6 NM_020751.2(COG6): c.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 GRCh37 Chromosome 13, 40234969: 40234969
7 COG6 NM_020751.2(COG6): c.1693-7_1693-6delTA deletion Benign/Likely benign rs1491507046 GRCh38 Chromosome 13, 39724501: 39724502
8 COG6 NM_020751.2(COG6): c.1693-7_1693-6delTA deletion Benign/Likely benign rs1491507046 GRCh37 Chromosome 13, 40298638: 40298639
9 COG6 NM_020751.2(COG6): c.1535T> G (p.Leu512Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1292534396 GRCh37 Chromosome 13, 40293915: 40293915
10 COG6 NM_020751.2(COG6): c.1535T> G (p.Leu512Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1292534396 GRCh38 Chromosome 13, 39719778: 39719778
11 COG6 NM_020751.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 GRCh37 Chromosome 13, 40229928: 40229928
12 COG6 NM_020751.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 GRCh38 Chromosome 13, 39655791: 39655791
13 COG6 NM_020751.2(COG6): c.388C> T (p.Gln130Ter) single nucleotide variant Pathogenic rs1259563970 GRCh37 Chromosome 13, 40239251: 40239251
14 COG6 NM_020751.2(COG6): c.388C> T (p.Gln130Ter) single nucleotide variant Pathogenic rs1259563970 GRCh38 Chromosome 13, 39665114: 39665114
15 COG6 NM_020751.2(COG6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs752232501 GRCh38 Chromosome 13, 39655727: 39655727
16 COG6 NM_020751.2(COG6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs752232501 GRCh37 Chromosome 13, 40229864: 40229864
17 COG6 NM_001145079.1(COG6): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic rs200177031 GRCh37 Chromosome 13, 40251687: 40251687
18 COG6 NM_001145079.1(COG6): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic rs200177031 GRCh38 Chromosome 13, 39677550: 39677550
19 COG6 NM_001145079.1(COG6): c.1746+2T> G single nucleotide variant Uncertain significance rs1555280464 GRCh38 Chromosome 13, 39724563: 39724563
20 COG6 NM_001145079.1(COG6): c.1746+2T> G single nucleotide variant Uncertain significance rs1555280464 GRCh37 Chromosome 13, 40298700: 40298700
21 COG6 NM_001145079.1(COG6): c.785A> G (p.Tyr262Cys) single nucleotide variant Pathogenic rs756826030 GRCh38 Chromosome 13, 39682261: 39682261
22 COG6 NM_001145079.1(COG6): c.785A> G (p.Tyr262Cys) single nucleotide variant Pathogenic rs756826030 GRCh37 Chromosome 13, 40256398: 40256398
23 COG6 NM_001145079.1(COG6): c.1239dup (p.Phe414Ilefs) duplication Pathogenic rs1555277827 GRCh38 Chromosome 13, 39699573: 39699573
24 COG6 NM_001145079.1(COG6): c.1239dup (p.Phe414Ilefs) duplication Pathogenic rs1555277827 GRCh37 Chromosome 13, 40273710: 40273710
25 COG6 NM_020751.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 GRCh38 Chromosome 13, 39727482: 39727482
26 COG6 NM_020751.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 GRCh37 Chromosome 13, 40301619: 40301619
27 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign rs375280565 GRCh37 Chromosome 13, 40298637: 40298639
28 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign rs375280565 GRCh38 Chromosome 13, 39724500: 39724502
29 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh37 Chromosome 13, 40229986: 40229986
30 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh38 Chromosome 13, 39655849: 39655849
31 COG6 NM_020751.2(COG6): c.730G> A (p.Val244Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 39682206: 39682206
32 COG6 NM_020751.2(COG6): c.730G> A (p.Val244Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 40256343: 40256343
33 COG6 NM_020751.2(COG6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 40325217: 40325217
34 COG6 NM_020751.2(COG6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 39751080: 39751080
35 COG6 NM_020751.2(COG6): c.851C> G (p.Ala284Gly) single nucleotide variant not provided GRCh38 Chromosome 13, 39687565: 39687565
36 COG6 NM_020751.2(COG6): c.851C> G (p.Ala284Gly) single nucleotide variant not provided GRCh37 Chromosome 13, 40261702: 40261702
37 COG6 NM_020751.2(COG6): c.1138_1140del (p.Leu381del) deletion Uncertain significance GRCh38 Chromosome 13, 39694697: 39694699
38 COG6 NM_020751.2(COG6): c.1138_1140del (p.Leu381del) deletion Uncertain significance GRCh37 Chromosome 13, 40268834: 40268836

Expression for Congenital Disorder of Glycosylation, Type Iil

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Pathways for Congenital Disorder of Glycosylation, Type Iil

GO Terms for Congenital Disorder of Glycosylation, Type Iil

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