CDG1L

MCID: CNG198

MIFTS: 43

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

Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes

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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 Il ¹² ¹⁵

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

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:

External Ids:

Disease Ontology ¹² DOID:0080564

OMIM ⁵⁶ 608776

OMIM Phenotypic Series ⁵⁶ PS212065

MeSH ⁴³ D018981

MedGen ⁴¹ C1837438 C2931006

UMLS ⁷¹ C2931006

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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 il, is related to congenital disorder of glycosylation, type in and congenital disorder of glycosylation, type iig. An important gene associated with Congenital Disorder of Glycosylation, Type Il is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase), and among its related pathways/superpathways is Cell cycle_Chromosome condensation in prometaphase. Affiliated tissues include bone, kidney and brain, 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 : 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)

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Related Diseases for Congenital Disorder of Glycosylation, Type Il

Diseases in the Disorder of Multiple Glycosylation family:

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

(show top 50) (show all 54)

#	Related Disease	Score	Top Affiliating Genes
1	congenital disorder of glycosylation, type in	30.0	IGF2R ATP6V0A2 ALG9 ALG12
2	congenital disorder of glycosylation, type iig	10.4	ALG9 ALG12
3	hemopericardium	10.2
4	pericardial effusion	10.2
5	immunodeficiency 47	10.1	ATP6V0A2 ALG9 ALG12
6	adult brain stem glioma	10.1	H3-3B H3-3A
7	congenital disorder of glycosylation, type ie	10.1	IGF2R ALG12
8	bone giant cell sarcoma	10.1	H3-3B H3-3A
9	malignant giant cell tumor	10.1	H3-3B H3-3A
10	spinal cord astrocytoma	10.1	H3-3B H3-3A
11	pneumoconiosis due to talc	10.1	H3-3B H3-3A
12	mental retardation, autosomal dominant 56	10.1	H3-3B H3-3A
13	congenital disorders of n-linked glycosylation and multiple pathway	10.0
14	hypotonia	10.0
15	clear cell chondrosarcoma	10.0	H3-3B H3-3A
16	spinal cord glioma	10.0	H3-3B H3-3A
17	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	10.0
18	monocular esotropia	10.0
19	esotropia	10.0
20	childhood brain stem glioma	9.9	H3-3B H3-3A
21	glioblastoma neural subtype	9.9	RPS3A PSMD4
22	localized pulmonary fibrosis	9.9	PSMD5 PSMD4
23	brain stem cancer	9.9	H3-3B H3-3A
24	ciliary dyskinesia, primary, 10	9.8	PSMD5 PSMD4
25	retinitis pigmentosa 61	9.8	PSMD5 PSMD4
26	ciliary dyskinesia, primary, 9	9.8	PSMD5 PSMD4
27	cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction	9.8	PSMD5 PSMD4
28	fibrillary astrocytoma	9.7	H3-3B H3-3A
29	bone giant cell tumor	9.6	H3-3B H3-3A
30	ophthalmia nodosa	9.5	RPS3A PSMD5 PSMD4
31	myasthenic syndrome, congenital, 21, presynaptic	9.5	RPS3A PSMD5 PSMD4
32	kunjin encephalitis	9.5	HUWE1 H3-3B H3-3A
33	amelogenesis imperfecta, type if	9.5	HUWE1 H3-3B H3-3A
34	amelogenesis imperfecta, type ia	9.5	HUWE1 H3-3B H3-3A
35	neurodegeneration with brain iron accumulation 6	9.5	HUWE1 H3-3B H3-3A
36	actinomycosis	9.5	HUWE1 H3-3B H3-3A
37	retinitis pigmentosa 23	9.5	RPS3A PSMD5 PSMD4
38	hypotrichosis 2	9.5	HUWE1 H3-3B H3-3A
39	mulibrey nanism	9.5	HUWE1 H3-3B H3-3A
40	griscelli syndrome, type 2	9.5	HUWE1 H3-3B H3-3A
41	wilson-turner x-linked mental retardation syndrome	9.5	RPS3A PSMD5 PSMD4
42	stuttering	9.5	HUWE1 H3-3B H3-3A
43	diffuse idiopathic skeletal hyperostosis	9.5	RPS3A HUWE1
44	metachromatic leukodystrophy	9.4	RPS3A IGF2R HUWE1
45	retinitis pigmentosa 49	9.4	RPS3A PSMD5 HUWE1
46	suppression of tumorigenicity 12	9.4	RPS3A PSMD5 PSMD4
47	griscelli syndrome, type 3	9.3	RPS3A PSMD4 HUWE1
48	autosomal genetic disease	9.1	RPS3A PSMD4 HUWE1
49	kaufman oculocerebrofacial syndrome	8.9	RPS3A PSMD5 PSMD4 HUWE1
50	kagami-ogata syndrome	8.9	RPS3A PSMD5 PSMD4 HUWE1

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

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

⁵⁶

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

Skeletal:
skeletal dysplasia
delayed bone age

Head And Neck Eyes:
hypertelorism
esotropia

Skeletal Spine:
kyphosis

Growth Other:
failure to thrive

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

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
depressed nasal bridge
short nose

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
frontal bossing

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

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Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Il

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

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Genetic Tests for Congenital Disorder of Glycosylation, Type Il

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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

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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. ⁵⁶ ⁶ ⁶¹	Weinstein M...Poplawski N	15945070	2005
2	Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. ⁵⁶ ⁶ ⁶¹	Frank CG...Hennet T	15148656	2004
3	Further Delineation of the ALG9-CDG Phenotype. ⁵⁶ ⁶	AlSubhi S...Tabarki B	26453364	2016
4	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview ⁶	Sparks SE...Krasnewich DM	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	Hykollari A...Paschinger K	23320427	2013

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Genes for Congenital Disorder of Glycosylation, Type Il

Genes related to Congenital Disorder of Glycosylation, Type Il (2 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALG9	ALG9 Alpha-1,2-Mannosyltransferase	Protein Coding	1216.86	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Publications Summaries (show sections)	15148656 15945070 26453364 (more) 20301507
2	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	400	Pathogenic ⁶	20301507
3	ALG12	ALG12 Alpha-1,6-Mannosyltransferase	Protein Coding	7.44	DISEASES inferred ¹⁵
4	TPBG	Trophoblast Glycoprotein	Protein Coding	5.31	DISEASES inferred ¹⁵
5	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	5.06	DISEASES inferred ¹⁵
6	EXO1	Exonuclease 1	Protein Coding	4.54	DISEASES inferred ¹⁵
7	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	4.35	DISEASES inferred ¹⁵
8	AXL	AXL Receptor Tyrosine Kinase	Protein Coding	4.19	DISEASES inferred ¹⁵
9	H3-3B	H3.3 Histone B	Protein Coding	3.97	DISEASES inferred ¹⁵
10	H3-3A	H3.3 Histone A	Protein Coding	3.97	DISEASES inferred ¹⁵
11	PSMD5	Proteasome 26S Subunit, Non-ATPase 5	Protein Coding	3.8	DISEASES inferred ¹⁵
12	PSMD4	Proteasome 26S Subunit, Non-ATPase 4	Protein Coding	3.67	DISEASES inferred ¹⁵
13	HUWE1	HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	3.54	DISEASES inferred ¹⁵
14	RPS3A	Ribosomal Protein S3A	Protein Coding	3.43	DISEASES inferred ¹⁵

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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 120) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ALG9	ALG9, GLU359LYS	SNV	Pathogenic	488404
2	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)	duplication	Pathogenic	840755		12:124228351-124228352	12:123743804-123743805
3	ALG9	NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)	SNV	Pathogenic	3748	rs121908022	11:111706902-111706902	11:111836179-111836179
4	ALG9	NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)	SNV	Pathogenic	3749	rs121908023	11:111724138-111724138	11:111853415-111853415
5	ATP6V0A2	NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)	duplication	Pathogenic	286400	rs745590426	12:124197189-124197190	12:123712642-123712643
6	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	SNV	Conflicting interpretations of pathogenicity	166708	rs143142641	12:124229303-124229303	12:123744756-123744756
7	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	SNV	Conflicting interpretations of pathogenicity	194862	rs150508296	12:124239020-124239020	12:123754473-123754473
8	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)	SNV	Conflicting interpretations of pathogenicity	210384	rs138886791	12:124239029-124239029	12:123754482-123754482
9	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)	SNV	Conflicting interpretations of pathogenicity	95518	rs138716143	12:124228816-124228816	12:123744269-123744269
10	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	SNV	Conflicting interpretations of pathogenicity	307594	rs367950442	12:124235735-124235735	12:123751188-123751188
11	ATP6V0A2	NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	SNV	Conflicting interpretations of pathogenicity	498312	rs139785866	12:124206965-124206965	12:123722418-123722418
12	ATP6V0A2	NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)	SNV	Conflicting interpretations of pathogenicity	593265	rs139680786	12:124221620-124221620	12:123737073-123737073
13	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)	SNV	Conflicting interpretations of pathogenicity	286114	rs142454880	12:124229435-124229435	12:123744888-123744888
14	ATP6V0A2	NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	SNV	Conflicting interpretations of pathogenicity	307580	rs143802431	12:124212422-124212422	12:123727875-123727875
15	ALG9	NM_024740.2(ALG9):c.1659C>T (p.Pro553=)	SNV	Conflicting interpretations of pathogenicity	374733	rs2276263	11:111680441-111680441	11:111809717-111809717
16	ALG9	NM_024740.2(ALG9):c.896-3C>T	SNV	Conflicting interpretations of pathogenicity	383735	rs782063335	11:111715449-111715449	11:111844726-111844726
17	ALG9	NM_024740.2(ALG9):c.1383C>T (p.Thr461=)	SNV	Conflicting interpretations of pathogenicity	380142	rs45516107	11:111708280-111708280	11:111837557-111837557
18	ATP6V0A2	NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)	SNV	Uncertain significance	392359	rs142935490	12:124210826-124210826	12:123726279-123726279
19	ALG9	NM_024740.2(ALG9):c.*2233A>G	SNV	Uncertain significance	302393	rs886047674	11:111654888-111654888	11:111784164-111784164
20	ALG9	NM_024740.2(ALG9):c.*2230A>C	SNV	Uncertain significance	302394	rs116530919	11:111654891-111654891	11:111784167-111784167
21	ALG9	NM_024740.2(ALG9):c.*1977A>G	SNV	Uncertain significance	302397	rs181231005	11:111655144-111655144	11:111784420-111784420
22	ALG9	NM_024740.2(ALG9):c.*906C>A	SNV	Uncertain significance	302414	rs147670080	11:111656215-111656215	11:111785491-111785491
23	ALG9	NM_024740.2(ALG9):c.*823A>G	SNV	Uncertain significance	302415	rs528387467	11:111656298-111656298	11:111785574-111785574
24	ALG9	NM_024740.2(ALG9):c.*773A>G	SNV	Uncertain significance	302417	rs886047679	11:111656348-111656348	11:111785624-111785624
25	ALG9	NM_024740.2(ALG9):c.*763T>C	SNV	Uncertain significance	302418	rs886047680	11:111656358-111656358	11:111785634-111785634
26	ALG9	NM_024740.2(ALG9):c.*532C>T	SNV	Uncertain significance	302419	rs886047681	11:111656589-111656589	11:111785865-111785865
27	ALG9	NM_024740.2(ALG9):c.-30G>A	SNV	Uncertain significance	302426	rs886047685	11:111742236-111742236	11:111871512-111871512
28	ALG9	NM_024740.2(ALG9):c.*3212C>T	SNV	Uncertain significance	302373	rs528920657	11:111653909-111653909	11:111783185-111783185
29	ALG9	NM_024740.2(ALG9):c.*3079C>T	SNV	Uncertain significance	302375	rs886047660	11:111654042-111654042	11:111783318-111783318
30	ALG9	NM_024740.2(ALG9):c.*2592T>C	SNV	Uncertain significance	302378	rs886047661	11:111654529-111654529	11:111783805-111783805
31	ALG9	NM_024740.2(ALG9):c.*2339T>G	SNV	Uncertain significance	302392	rs886047673	11:111654782-111654782	11:111784058-111784058
32	ALG9	NM_024740.2(ALG9):c.*1687A>T	SNV	Uncertain significance	302401	rs367569393	11:111655434-111655434	11:111784710-111784710
33	ALG9	NM_024740.2(ALG9):c.*1607C>T	SNV	Uncertain significance	302407	rs117488631	11:111655514-111655514	11:111784790-111784790
34	ALG9	NM_024740.2(ALG9):c.*1420C>G	SNV	Uncertain significance	302409	rs143933458	11:111655701-111655701	11:111784977-111784977
35	ALG9	NM_024740.2(ALG9):c.*788A>G	SNV	Uncertain significance	302416	rs559698025	11:111656333-111656333	11:111785609-111785609
36	ALG9	NM_024740.2(ALG9):c.*523T>C	SNV	Uncertain significance	302420	rs536072357	11:111656598-111656598	11:111785874-111785874
37	ALG9	NM_024740.2(ALG9):c.*365A>G	SNV	Uncertain significance	302421	rs886047682	11:111656756-111656756	11:111786032-111786032
38	ALG9	NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)	SNV	Uncertain significance	660397		11:111708264-111708264	11:111837541-111837541
39	ATP6V0A2	NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)	SNV	Uncertain significance	661517		12:124220091-124220091	12:123735544-123735544
40	ALG9	NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)	SNV	Uncertain significance	523889	rs1555064204	11:111657198-111657198	11:111786474-111786474
41	ALG9	NM_024740.2(ALG9):c.129C>T (p.Thr43=)	SNV	Uncertain significance	538564	rs1311317470	11:111742077-111742077	11:111871354-111871354
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.98G>A (p.Ser33Asn)	SNV	Uncertain significance	841594		11:111742108-111742108	11:111871385-111871385
44	ATP6V0A2	NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)	SNV	Uncertain significance	863749		12:124218476-124218476	12:123733929-123733929
45	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)	SNV	Uncertain significance	859353		12:124242562-124242562	12:123758015-123758015
46	ALG9	NM_024740.2(ALG9):c.*3798A>G	SNV	Uncertain significance	880091		11:111653323-111653323	11:111782599-111782599
47	ALG9	NM_024740.2(ALG9):c.*3757T>C	SNV	Uncertain significance	880092		11:111653364-111653364	11:111782640-111782640
48	ALG9	NM_024740.2(ALG9):c.*1311A>G	SNV	Uncertain significance	877346		11:111655810-111655810	11:111785086-111785086
49	ALG9	NM_024740.2(ALG9):c.*1297A>G	SNV	Uncertain significance	877347		11:111655824-111655824	11:111785100-111785100
50	ALG9	NM_024740.2(ALG9):c.*726C>G	SNV	Uncertain significance	878370		11:111656395-111656395	11:111785671-111785671

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

Sources

Expression for Congenital Disorder of Glycosylation, Type Il

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

Sources

Pathways for Congenital Disorder of Glycosylation, Type Il

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell cycle_Chromosome condensation in prometaphase ²²	10.14	H3-3B H3-3A

Sources

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	extracellular exosome	GO:0070062	9.8	RPS3A IGF2R HUWE1 H3-3B H3-3A GARS1
2	proteasome accessory complex	GO:0022624	9.16	PSMD5 PSMD4
3	proteasome regulatory particle, base subcomplex	GO:0008540	8.96	PSMD5 PSMD4
4	Barr body	GO:0001740	8.62	H3-3B H3-3A

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteasome-mediated ubiquitin-dependent protein catabolic process	GO:0043161	9.69	PSMD5 PSMD4 HUWE1
2	nucleus organization	GO:0006997	9.49	H3-3B H3-3A
3	telomere organization	GO:0032200	9.48	H3-3B H3-3A
4	DNA replication-independent nucleosome assembly	GO:0006336	9.46	H3-3B H3-3A
5	mannosylation	GO:0097502	9.43	ALG9 ALG12
6	muscle cell differentiation	GO:0042692	9.4	H3-3B H3-3A
7	dolichol-linked oligosaccharide biosynthetic process	GO:0006488	9.37	ALG9 ALG12
8	proteasome assembly	GO:0043248	9.32	PSMD5 PSMD4
9	pericentric heterochromatin assembly	GO:0031508	9.26	H3-3B H3-3A
10	regulation of centromere complex assembly	GO:0090230	9.16	H3-3B H3-3A
11	negative regulation of chromosome condensation	GO:1902340	8.96	H3-3B H3-3A
12	telomeric heterochromatin assembly	GO:0031509	8.62	H3-3B H3-3A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	8.96	H3-3B H3-3A
2	mannosyltransferase activity	GO:0000030	8.62	ALG9 ALG12

Sources

Sources for Congenital Disorder of Glycosylation, Type Il

¹ BioSystems

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⁶⁹ TGDB

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia