CDG1L
MCID: CNG198
MIFTS: 40

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

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 57 13
Cdg Il 57 73 6
Congenital Disorder of Glycosylation Il 12 15
Congenital Disorder of Glycosylation 1l 12 73
Cdg1l 57 73
Cdgil 57 73
Glycosylation, Congenital Disorder of, Type Il 39
Congenital Disorder of Glycosylation Type Il 73
Congenital Disorder of Glycosylation Type 1l 71
Cdg Il; Cdgil 57
Cdg-Il 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 cdg il, is related to congenital disorder of glycosylation, type in and congenital disorders of n-linked glycosylation and multiple pathway. An important gene associated with Congenital Disorder of Glycosylation, Type Il is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase), and among its related pathways/superpathways are Synthesis of substrates in N-glycan biosythesis and N-Glycan biosynthesis. Affiliated tissues include brain, bone and heart, and related phenotypes are abnormal facial shape and intellectual disability

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® : 57 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) (Updated 05-Mar-2021)

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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 29.5 ATP6V0A2 ALG9 ALG12
2 congenital disorders of n-linked glycosylation and multiple pathway 10.1
3 hypotonia 10.1
4 hemopericardium 10.0
5 pericardial effusion 10.0
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
7 monocular esotropia 9.9
8 esotropia 9.9
9 congenital disorder of glycosylation, type iig 9.8 ALG9 ALG12
10 congenital disorder of glycosylation, type iio 9.7 ATP6V0A2 ALG9
11 immunodeficiency 47 9.4 ATP6V0A2 ALG9 ALG12

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
hyperreflexia
cerebellar atrophy
poor speech
epileptic encephalopathy
more
Head And Neck Head:
frontal bossing
microcephaly

Head And Neck Neck:
short neck

Skeletal:
skeletal dysplasia
delayed bone age

Head And Neck Eyes:
hypertelorism
esotropia

Head And Neck Ears:
low-set ears

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

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

Growth Other:
failure to thrive

Skeletal Spine:
kyphosis

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
depressed nasal bridge
short nose

Skeletal Skull:
brachycephaly
thickened skull bones

Chest Breasts:
inverted nipples
widely spaced nipples

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 (Updated 05-Mar-2021)

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
Brain, Bone, Heart, Kidney

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 57 61
15945070 2005
2
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. 57 6 61
15148656 2004
3
Further Delineation of the ALG9-CDG Phenotype. 57 6
26453364 2016
4
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 top 50) (show all 125)
# 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 ALG9 ALG9, GLU359LYS SNV Pathogenic 488404
4 ATP6V0A2 NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) Duplication Pathogenic 286400 rs745590426 12:124197189-124197190 12:123712642-123712643
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) Duplication Pathogenic 840755 12:124228351-124228352 12:123743804-123743805
6 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1605+1G>A SNV Pathogenic 967453 12:124229520-124229520 12:123744973-123744973
7 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs) Indel Pathogenic 972437 12:124233228-124233229 12:123748681-123748682
8 ALG9 NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) SNV Uncertain significance 96135 rs36111204 11:111728332-111728332 11:111857609-111857609
9 ALG9 NM_024740.2(ALG9):c.*3175G>A SNV Uncertain significance 877291 11:111653946-111653946 11:111783222-111783222
10 ALG9 NM_024740.2(ALG9):c.*2648G>A SNV Uncertain significance 877292 11:111654473-111654473 11:111783749-111783749
11 ALG9 NM_024740.2(ALG9):c.*2597G>C SNV Uncertain significance 877293 11:111654524-111654524 11:111783800-111783800
12 ALG9 NM_024740.2(ALG9):c.*1311A>G SNV Uncertain significance 877346 11:111655810-111655810 11:111785086-111785086
13 ALG9 NM_024740.2(ALG9):c.*1297A>G SNV Uncertain significance 877347 11:111655824-111655824 11:111785100-111785100
14 ALG9 NM_024740.2(ALG9):c.*2474A>T SNV Uncertain significance 878327 11:111654647-111654647 11:111783923-111783923
15 ALG9 NM_024740.2(ALG9):c.*2457G>T SNV Uncertain significance 878328 11:111654664-111654664 11:111783940-111783940
16 ALG9 NM_024740.2(ALG9):c.*2443T>A SNV Uncertain significance 878329 11:111654678-111654678 11:111783954-111783954
17 ALG9 NM_024740.2(ALG9):c.*2414T>G SNV Uncertain significance 878330 11:111654707-111654707 11:111783983-111783983
18 ALG9 NM_024740.2(ALG9):c.*2342G>A SNV Uncertain significance 878331 11:111654779-111654779 11:111784055-111784055
19 ALG9 NM_024740.2(ALG9):c.*726C>G SNV Uncertain significance 878370 11:111656395-111656395 11:111785671-111785671
20 ALG9 NM_024740.2(ALG9):c.*314G>A SNV Uncertain significance 878371 11:111656807-111656807 11:111786083-111786083
21 ALG9 NM_024740.2(ALG9):c.*305C>T SNV Uncertain significance 878372 11:111656816-111656816 11:111786092-111786092
22 ALG9 NM_024740.2(ALG9):c.*2287A>G SNV Uncertain significance 878913 11:111654834-111654834 11:111784110-111784110
23 ALG9 NM_024740.2(ALG9):c.*77G>A SNV Uncertain significance 878961 11:111657044-111657044 11:111786320-111786320
24 ALG9 NM_024740.2(ALG9):c.*3798A>G SNV Uncertain significance 880091 11:111653323-111653323 11:111782599-111782599
25 ALG9 NM_024740.2(ALG9):c.*3757T>C SNV Uncertain significance 880092 11:111653364-111653364 11:111782640-111782640
26 ALG9 NM_024740.2(ALG9):c.*3471A>G SNV Uncertain significance 880094 11:111653650-111653650 11:111782926-111782926
27 ALG9 NM_024740.2(ALG9):c.*3213G>A SNV Uncertain significance 880095 11:111653908-111653908 11:111783184-111783184
28 ALG9 NM_024740.2(ALG9):c.*1722C>T SNV Uncertain significance 880135 11:111655399-111655399 11:111784675-111784675
29 ALG9 NM_024740.2(ALG9):c.53G>A (p.Gly18Glu) SNV Uncertain significance 880233 11:111742154-111742154 11:111871430-111871430
30 ALG9 NM_024740.2(ALG9):c.131+5G>T SNV Uncertain significance 937587 11:111742070-111742070 11:111871347-111871347
31 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) SNV Uncertain significance 945705 12:124228411-124228411 12:123743864-123743864
32 ALG9 NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) SNV Uncertain significance 598383 rs200946042 11:111724420-111724420 11:111853697-111853697
33 ALG9 NM_024740.2(ALG9):c.98G>A (p.Ser33Asn) SNV Uncertain significance 841594 11:111742108-111742108 11:111871385-111871385
34 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) SNV Uncertain significance 284751 rs149700024 12:124233163-124233163 12:123748616-123748616
35 ATP6V0A2 NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) SNV Uncertain significance 307586 rs372416067 12:124228389-124228389 12:123743842-123743842
36 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) SNV Uncertain significance 859353 12:124242562-124242562 12:123758015-123758015
37 ATP6V0A2 NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) SNV Uncertain significance 863749 12:124218476-124218476 12:123733929-123733929
38 ATP6V0A2 NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) SNV Uncertain significance 392359 rs142935490 12:124210826-124210826 12:123726279-123726279
39 ALG9 NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) SNV Uncertain significance 523889 rs1555064204 11:111657198-111657198 11:111786474-111786474
40 ALG9 NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) SNV Uncertain significance 660397 rs782023699 11:111708264-111708264 11:111837541-111837541
41 ATP6V0A2 NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) SNV Uncertain significance 661517 rs879082266 12:124220091-124220091 12:123735544-123735544
42 ATP6V0A2 NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) SNV Uncertain significance 533136 rs774276857 12:124241407-124241407 12:123756860-123756860
43 ALG9 NM_024740.2(ALG9):c.129C>T (p.Thr43=) SNV Uncertain significance 538564 rs1311317470 11:111742077-111742077 11:111871354-111871354
44 ALG9 NM_024740.2(ALG9):c.*906C>A SNV Uncertain significance 302414 rs147670080 11:111656215-111656215 11:111785491-111785491
45 ALG9 NM_024740.2(ALG9):c.*3423T>C SNV Uncertain significance 302371 rs78243190 11:111653698-111653698 11:111782974-111782974
46 ALG9 NM_024740.2(ALG9):c.896-3C>T SNV Uncertain significance 383735 rs782063335 11:111715449-111715449 11:111844726-111844726
47 ALG9 NM_024740.2(ALG9):c.*306G>A SNV Uncertain significance 302422 rs886047683 11:111656815-111656815 11:111786091-111786091
48 ALG9 NM_024740.2(ALG9):c.*2473A>T SNV Uncertain significance 302385 rs2554994 11:111654648-111654648 11:111783924-111783924
49 ALG9 NM_024740.2(ALG9):c.*1536T>C SNV Uncertain significance 302408 rs782678326 11:111655585-111655585 11:111784861-111784861
50 ALG9 NM_024740.2(ALG9):c.*2230A>C SNV Uncertain significance 302394 rs116530919 11:111654891-111654891 11:111784167-111784167

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

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

Pathways for Congenital Disorder of Glycosylation, Type Il

GO Terms for Congenital Disorder of Glycosylation, Type Il

Cellular components related to Congenital Disorder of Glycosylation, Type Il according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.02 TPBG AXL ATP6V0A2 ALG9 ALG12

Biological processes related to Congenital Disorder of Glycosylation, Type Il according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.32 TPBG AXL
2 protein glycosylation GO:0006486 9.26 ALG9 ALG12
3 protein N-linked glycosylation GO:0006487 9.16 ALG9 ALG12
4 mannosylation GO:0097502 8.96 ALG9 ALG12
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 8.62 ALG9 ALG12

Molecular functions related to Congenital Disorder of Glycosylation, Type Il according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.96 ALG9 ALG12
2 mannosyltransferase activity GO:0000030 8.62 ALG9 ALG12

Sources for Congenital Disorder of Glycosylation, Type Il

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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