CDG1L
MCID: CNG198
MIFTS: 33

Congenital Disorder of Glycosylation, Type Il (CDG1L)

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, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Il

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

Name: Congenital Disorder of Glycosylation, Type Il 56 13
Congenital Disorder of Glycosylation 1l 12 73
Cdg Il 56 73
Cdg1l 56 73
Cdgil 56 73
Glycosylation, Congenital Disorder of, Type Il 39
Congenital Disorder of Glycosylation Type Il 73
Congenital Disorder of Glycosylation Type 1l 71
Congenital Disorder of Glycosylation Il 12
Cdg Il; Cdgil 56
Cdg-Il 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth or in early infancy


HPO:

31
congenital disorder of glycosylation, type il:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Il

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1L: A form of congenital disorder of glycosylation, 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Il, also known as congenital disorder of glycosylation 1l, is related to congenital disorder of glycosylation, type in and hemopericardium. An important gene associated with Congenital Disorder of Glycosylation, Type Il is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase). Affiliated tissues include bone, kidney and brain, and related phenotypes are abnormal facial shape and hypertelorism

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has material basis in homozygous mutation in the ALG9 gene on chromosome 11q23.

OMIM : 56 Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065). (608776)

Related Diseases for Congenital Disorder of Glycosylation, Type Il

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

Diseases related to Congenital Disorder of Glycosylation, Type Il via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 28.9 ATP6V0A2 ALG9
2 hemopericardium 10.2
3 pericardial effusion 10.2
4 congenital disorders of n-linked glycosylation and multiple pathway 10.0
5 hypotonia 10.0
6 monocular esotropia 10.0
7 esotropia 10.0
8 congenital disorder of glycosylation, type ii 9.4 ATP6V0A2 ALG9

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Il:



Diseases related to Congenital Disorder of Glycosylation, Type Il

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Il

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

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 short neck 31 HP:0000470
5 frontal bossing 31 HP:0002007
6 intellectual disability 31 HP:0001249
7 seizures 31 HP:0001250
8 hyperreflexia 31 HP:0001347
9 failure to thrive 31 HP:0001508
10 kyphosis 31 HP:0002808
11 global developmental delay 31 HP:0001263
12 hepatomegaly 31 HP:0002240
13 skeletal dysplasia 31 HP:0002652
14 delayed skeletal maturation 31 HP:0002750
15 depressed nasal bridge 31 HP:0005280
16 short nose 31 HP:0003196
17 microcephaly 31 HP:0000252
18 brachycephaly 31 HP:0000248
19 ascites 31 HP:0001541
20 long philtrum 31 HP:0000343
21 generalized hypotonia 31 HP:0001290
22 edema 31 HP:0000969
23 wide intermamillary distance 31 HP:0006610
24 inverted nipples 31 HP:0003186
25 hip dislocation 31 HP:0002827
26 wide mouth 31 HP:0000154
27 poor speech 31 HP:0002465
28 epileptic encephalopathy 31 HP:0200134
29 polycystic kidney dysplasia 31 HP:0000113
30 abnormal cardiac septum morphology 31 HP:0001671
31 decreased fetal movement 31 HP:0001558
32 cerebellar atrophy 31 HP:0001272
33 hepatosplenomegaly 31 HP:0001433
34 pericardial effusion 31 HP:0001698
35 esotropia 31 HP:0000565
36 global brain atrophy 31 HP:0002283
37 delayed cns myelination 31 HP:0002188

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
esotropia

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
intellectual disability
hyperreflexia
poor speech
epileptic encephalopathy
cerebellar atrophy
more
Skeletal Spine:
kyphosis

Skeletal:
skeletal dysplasia
delayed bone age

Skeletal Skull:
brachycephaly
thickened skull bones

Chest Breasts:
inverted nipples
widely spaced nipples

Cardiovascular Heart:
pericardial effusion
septal defects
congenital heart disease

Head And Neck Mouth:
large mouth

Skeletal Limbs:
brachymelia

Laboratory Abnormalities:
hypoglycosylation of serum transferrin, consistent with cdg type i
defective lipid-linked oligosaccharide (llo) assembly

Head And Neck Ears:
low-set ears

Head And Neck Head:
frontal bossing
microcephaly

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
depressed nasal bridge
short nose

Head And Neck Face:
long philtrum
dysmorphic facial features, variable (in some patients)

Skeletal Pelvis:
hip dislocation

Muscle Soft Tissue:
hypotonia
ascites (1 patient with nonimmune hydrops fetalis)
edema (1 patient with nonimmune hydrops fetalis)

Prenatal Manifestations Movement:
decreased fetal movements

Genitourinary Kidneys:
polycystic kidneys (uncommon)

Clinical features from OMIM:

608776

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Il

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Il

Anatomical Context for Congenital Disorder of Glycosylation, Type Il

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

40
Bone, Kidney, Brain, Heart

Publications for Congenital Disorder of Glycosylation, Type Il

Articles related to Congenital Disorder of Glycosylation, Type Il:

# Title Authors PMID Year
1
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. 6 61 56
15945070 2005
2
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. 61 56 6
15148656 2004
3
Further Delineation of the ALG9-CDG Phenotype. 56 6
26453364 2016
4
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
5
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. 61
23320427 2013

Variations for Congenital Disorder of Glycosylation, Type Il

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

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG9 NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)SNV Pathogenic 3748 rs121908022 11:111706902-111706902 11:111836179-111836179
2 ALG9 NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)SNV Pathogenic 3749 rs121908023 11:111724138-111724138 11:111853415-111853415
3 ATP6V0A2 NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)duplication Pathogenic 286400 rs745590426 12:124197190-124197190 12:123712643-123712643
4 ALG9 ALG9, GLU359LYSSNV Pathogenic 488404
5 ALG9 NM_024740.2(ALG9):c.896-3C>TSNV Conflicting interpretations of pathogenicity 383735 rs782063335 11:111715449-111715449 11:111844726-111844726
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)SNV Conflicting interpretations of pathogenicity 307588 rs80355657 12:124229504-124229504 12:123744957-123744957
7 ALG9 NM_024740.2(ALG9):c.1659C>T (p.Pro553=)SNV Conflicting interpretations of pathogenicity 374733 rs2276263 11:111680441-111680441 11:111809717-111809717
8 ALG9 NM_024740.2(ALG9):c.1383C>T (p.Thr461=)SNV Conflicting interpretations of pathogenicity 380142 rs45516107 11:111708280-111708280 11:111837557-111837557
9 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)SNV Conflicting interpretations of pathogenicity 446885 rs139509075 12:124241452-124241452 12:123756905-123756905
10 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)SNV Uncertain significance 533136 rs774276857 12:124241407-124241407 12:123756860-123756860
11 ALG9 NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)SNV Uncertain significance 660397 11:111708264-111708264 11:111837541-111837541
12 ATP6V0A2 NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)SNV Uncertain significance 661517 12:124220091-124220091 12:123735544-123735544
13 ATP6V0A2 NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)SNV Uncertain significance 392359 rs142935490 12:124210826-124210826 12:123726279-123726279
14 ALG9 NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)SNV Uncertain significance 96135 rs36111204 11:111728332-111728332 11:111857609-111857609
15 ALG9 NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)SNV Uncertain significance 523889 rs1555064204 11:111657198-111657198 11:111786474-111786474
16 ALG9 NM_024740.2(ALG9):c.129C>T (p.Thr43=)SNV Uncertain significance 538564 rs1311317470 11:111742077-111742077 11:111871354-111871354
17 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1936-7C>TSNV Likely benign 533137 rs370135665 12:124235650-124235650 12:123751103-123751103
18 ALG9 NM_001077691.2(ALG9):c.1025C>T (p.Pro342Leu)SNV Benign/Likely benign 166678 rs185149177 11:111706952-111706952 11:111836229-111836229
19 ALG9 NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)SNV Benign/Likely benign 384997 rs77191760 11:111657184-111657184 11:111786460-111786460
20 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)SNV Benign/Likely benign 95516 rs74922060 12:124221796-124221796 12:123737249-123737249
21 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)SNV Benign/Likely benign 95517 rs79134187 12:124228414-124228414 12:123743867-123743867
22 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)SNV Benign/Likely benign 95521 rs17883456 12:124241506-124241506 12:123756959-123756959
23 ALG9 NM_024740.2(ALG9):c.406-7C>TSNV Benign 96134 rs45574638 11:111735981-111735981 11:111865258-111865258

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

73
# Symbol AA change Variation ID SNP ID
1 ALG9 p.Tyr287Cys VAR_023410 rs121908023
2 ALG9 p.Glu523Lys VAR_023413 rs121908022

Expression for Congenital Disorder of Glycosylation, Type Il

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Pathways for Congenital Disorder of Glycosylation, Type Il

GO Terms for Congenital Disorder of Glycosylation, Type Il

Sources for Congenital Disorder of Glycosylation, Type Il

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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