CDG2L
MCID: CNG414
MIFTS: 29

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 72
Congenital Disorder of Glycosylation Type Iil 12 59 74 15
Congenital Disorder of Glycosylation Type 2l 12 59 29 6
Cdg2l 57 12 59 74
Cdg Iil 57 12 74
Cdg Syndrome Type Iil 12 59
Cog6-Cgd 12 59
Cdg-Iil 59 74
Cdgiil 57 74
Glycosylation, Congenital Disorder of, Type Iil 40
Congenital Disorder of Glycosylation 2l 74
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:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070264
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA464443
UMLS 72 C3553230

Summaries for Congenital Disorder of Glycosylation, Type Iil

UniProtKB/Swiss-Prot : 74 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 and t cells, 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 : 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 Disorder of Multiple Glycosylation 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 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:

32 (showing 35, show less)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 occasional (7.5%) HP:0002240
2 retrognathia 32 occasional (7.5%) HP:0000278
3 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910
4 inflammation of the large intestine 32 occasional (7.5%) HP:0002037
5 decreased antibody level in blood 32 occasional (7.5%) HP:0004313
6 impaired t cell function 32 occasional (7.5%) HP:0005435
7 recurrent infections 32 occasional (7.5%) HP:0002719
8 chronic diarrhea 32 occasional (7.5%) HP:0002028
9 proximal tubulopathy 32 occasional (7.5%) HP:0000114
10 muscular hypotonia of the trunk 32 occasional (7.5%) HP:0008936
11 micronodular cirrhosis 32 occasional (7.5%) HP:0001413
12 postaxial polydactyly 32 occasional (7.5%) HP:0100259
13 macrovesicular hepatic steatosis 32 occasional (7.5%) HP:0001403
14 intellectual disability 32 HP:0001249
15 seizures 32 HP:0001250
16 failure to thrive 32 HP:0001508
17 global developmental delay 32 HP:0001263
18 splenomegaly 32 HP:0001744
19 microcephaly 32 HP:0000252
20 immunodeficiency 32 HP:0002721
21 anemia 32 HP:0001903
22 pancytopenia 32 HP:0001876
23 abnormal bleeding 32 HP:0001892
24 generalized hypotonia 32 HP:0001290
25 hyperkeratosis 32 HP:0000962
26 epicanthus 32 HP:0000286
27 hypohidrosis 32 HP:0000966
28 intrauterine growth retardation 32 HP:0001511
29 thrombocytopenia 32 HP:0001873
30 ventriculomegaly 32 HP:0002119
31 cholestasis 32 HP:0001396
32 hyperbilirubinemia 32 HP:0002904
33 cerebral atrophy 32 HP:0002059
34 loss of consciousness 32 HP:0007185
35 type ii transferrin isoform profile 32 HP:0012301

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

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

Publications for Congenital Disorder of Glycosylation, Type Iil

Articles related to Congenital Disorder of Glycosylation, Type Iil:

(showing 6, show less)
# Title Authors PMID Year
1
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. 38 8 71
20605848 2010
2
Key features and clinical variability of COG6-CDG. 8 71
26260076 2015
3
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. 8 71
23430903 2012
4
Variable phenotypic expression of COG6 mutations. 71
24667118 2014
5
Expanding the clinical phenotype of COG6 deficiency. 71
24667119 2014
6
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. 71
23606727 2013

Variations for Congenital Disorder of Glycosylation, Type Iil

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

6 (showing 21, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COG6 NM_001145079.2(COG6): c.388C> T (p.Gln130Ter) single nucleotide variant Pathogenic rs1259563970 13:40239251-40239251 13:39665114-39665114
2 COG6 NM_001145079.2(COG6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs752232501 13:40229864-40229864 13:39655727-39655727
3 COG6 NM_001145079.2(COG6): c.511C> T (p.Arg171Ter) single nucleotide variant Pathogenic rs200177031 13:40251687-40251687 13:39677550-39677550
4 COG6 NM_001145079.2(COG6): c.785A> G (p.Tyr262Cys) single nucleotide variant Pathogenic rs756826030 13:40256398-40256398 13:39682261-39682261
5 COG6 NM_001145079.2(COG6): c.1239dup (p.Phe414fs) duplication Pathogenic rs1555277827 13:40273710-40273710 13:39699573-39699573
6 COG6 NM_001145079.2(COG6): c.1646G> T (p.Gly549Val) single nucleotide variant Pathogenic rs387906959 13:40297531-40297531 13:39723394-39723394
7 COG6 NM_001145079.2(COG6): c.1535T> G (p.Leu512Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1292534396 13:40293915-40293915 13:39719778-39719778
8 COG6 NM_001145079.2(COG6): c.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 13:40234969-40234969 13:39660832-39660832
9 COG6 NM_001145079.2(COG6): c.730G> A (p.Val244Ile) single nucleotide variant Uncertain significance 13:40256343-40256343 13:39682206-39682206
10 COG6 NM_001145079.2(COG6): c.1826+23532C> T single nucleotide variant Uncertain significance 13:40325217-40325217 13:39751080-39751080
11 COG6 NM_001145079.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 13:40301619-40301619 13:39727482-39727482
12 COG6 NM_001145079.2(COG6): c.1746+2T> G single nucleotide variant Uncertain significance rs1555280464 13:40298700-40298700 13:39724563-39724563
13 COG6 NM_001145079.2(COG6): c.1138_1140CTC[1] (p.Leu381del) short repeat Uncertain significance 13:40268834-40268836 13:39694697-39694699
14 COG6 NM_001145079.2(COG6): c.134C> T (p.Thr45Met) single nucleotide variant Uncertain significance 13:40229997-40229997 13:39655860-39655860
15 COG6 NM_001145079.2(COG6): c.1826+23481A> C single nucleotide variant Uncertain significance 13:40325166-40325166 13:39751029-39751029
16 COG6 NM_001145079.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 13:40229986-40229986 13:39655849-39655849
17 COG6 NM_001145079.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 13:40229928-40229928 13:39655791-39655791
18 COG6 NM_001145079.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 13:40261749-40261749 13:39687612-39687612
19 COG6 NM_001145079.2(COG6): c.1693-7_1693-6del deletion Benign/Likely benign rs1491507046 13:40298638-40298639 13:39724501-39724502
20 COG6 NM_001145079.2(COG6): c.1693-8_1693-6del deletion Benign rs375280565 13:40298637-40298639 13:39724500-39724502
21 COG6 NM_001145079.2(COG6): c.851C> G (p.Ala284Gly) single nucleotide variant not provided 13:40261702-40261702 13:39687565-39687565

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

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 COG6 p.Gly549Val VAR_068240 rs387906959

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

GO Terms for Congenital Disorder of Glycosylation, Type Iil

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