Congenital Disorder of Glycosylation, Type Il disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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 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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Gastrointestinal diseases Liver diseases Nephrological diseases Ear diseases Bone diseases Skin diseases Endocrine diseases Blood diseases Immune diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080564

OMIM® ⁵⁷ 608776

OMIM Phenotypic Series ⁵⁷ PS212065

MeSH ⁴⁴ 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 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)

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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 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:

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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	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)

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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

Brain, Bone, Heart, Kidney

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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. ⁶ ⁵⁷ 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. ⁵⁷ ⁶ ⁶¹	Frank CG...Hennet T	15148656	2004
3	Further Delineation of the ALG9-CDG Phenotype. ⁵⁷ ⁶	AlSubhi S...Tabarki B	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	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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ALG9	ALG9 Alpha-1,2-Mannosyltransferase	Protein Coding	1217.79	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Publications Summaries (show sections)	15148656
2	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	400	Pathogenic ⁶
3	ALG12	ALG12 Alpha-1,6-Mannosyltransferase	Protein Coding	7.84	DISEASES inferred ¹⁵
4	TPBG	Trophoblast Glycoprotein	Protein Coding	5.73	DISEASES inferred ¹⁵
5	AXL	AXL Receptor Tyrosine Kinase	Protein Coding	4.6	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 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

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Expression for Congenital Disorder of Glycosylation, Type Il

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

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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	Synthesis of substrates in N-glycan biosythesis ⁶⁵ Show member pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein ⁶⁵ CMP-N-acetylneuraminate biosynthesis I (eukaryotes) ¹ dolichol and dolichyl phosphate biosynthesis ¹ GDP-fucose biosynthesis ⁶⁵ GDP-L-fucose biosynthesis I (from GDP-D-mannose) ¹ GDP-L-fucose biosynthesis II (from L-fucose) ¹ Sialic acid metabolism ⁶⁵ Synthesis of Dolichyl-phosphate ⁶⁵ Synthesis of dolichyl-phosphate-glucose ⁶⁵	11.25	ALG9 ALG12
2	N-Glycan biosynthesis ³⁶ Show member pathways dolichyl-diphosphooligosaccharide biosynthesis ¹ Synthesis of dolichyl-phosphate mannose ⁶⁵ Various types of N-glycan biosynthesis ³⁶	10.63	ALG9 ALG12

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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

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Sources for Congenital Disorder of Glycosylation, Type Il

¹ BioSystems

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Congenital Disorder of Glycosylation, Type Il (CDG1L)

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Il

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Congenital Disorder of Glycosylation, Type Il

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Publications for Congenital Disorder of Glycosylation, Type Il

Articles related to Congenital Disorder of Glycosylation, Type Il:

Genes for Congenital Disorder of Glycosylation, Type Il

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

Variations for Congenital Disorder of Glycosylation, Type Il

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

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

Expression for Congenital Disorder of Glycosylation, Type Il

Pathways for Congenital Disorder of Glycosylation, Type Il

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

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:

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

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

Sources for Congenital Disorder of Glycosylation, Type Il