MCID: CNG414
MIFTS: 26

Congenital Disorder of Glycosylation, Type Iil

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 2l 59 29 6
Cdg2l 57 59 75
Congenital Disorder of Glycosylation Type Iil 59 75
Cdg Iil 57 75
Cdg-Iil 59 75
Cdgiil 57 75
Glycosylation, Congenital Disorder of, Type Iil 40
Congenital Disorder of Glycosylation 2l 75
Cdg Syndrome Type Iil 59
Cdg Iil; Cdgiil 57
Cog6-Cgd 59

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, is also known as congenital disorder of glycosylation type 2l, 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 seizures and failure to thrive

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 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 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)

AbdomenSpleen:
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 19)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 hepatomegaly 32 occasional (7.5%) HP:0002240
5 microcephaly 32 HP:0000252
6 retrognathia 32 occasional (7.5%) HP:0000278
7 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
8 inflammation of the large intestine 32 occasional (7.5%) HP:0002037
9 decreased antibody level in blood 32 occasional (7.5%) HP:0004313
10 impaired t cell function 32 occasional (7.5%) HP:0005435
11 recurrent infections 32 occasional (7.5%) HP:0002719
12 chronic diarrhea 32 occasional (7.5%) HP:0002028
13 proximal tubulopathy 32 occasional (7.5%) HP:0000114
14 loss of consciousness 32 HP:0007185
15 muscular hypotonia of the trunk 32 occasional (7.5%) HP:0008936
16 type ii transferrin isoform profile 32 HP:0012301
17 macrovesicular hepatic steatosis 32 occasional (7.5%) HP:0001403
18 postaxial polydactyly 32 occasional (7.5%) HP:0100259
19 micronodular cirrhosis 32 occasional (7.5%) HP:0001413

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

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 30)
# 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_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 Pathogenic GRCh38 Chromosome 13, 39724563: 39724563
20 COG6 NM_001145079.1(COG6): c.1746+2T> G single nucleotide variant Pathogenic 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 GRCh38 Chromosome 13, 39699573: 39699573
24 COG6 NM_001145079.1(COG6): c.1239dup (p.Phe414Ilefs) duplication Pathogenic 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 GRCh37 Chromosome 13, 40298637: 40298639
28 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign GRCh38 Chromosome 13, 39724500: 39724502
29 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh38 Chromosome 13, 39655849: 39655849
30 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh37 Chromosome 13, 40229986: 40229986

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

Sources for Congenital Disorder of Glycosylation, Type Iil

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