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	congenital disorders of glycosylation

Disease ID	1005
Disease	congenital disorders of glycosylation
Definition	An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.
Synonym	carb defic glycoprotein syndrome carbohydrate deficiency glycoprotein syndrome carbohydrate deficient glycoprotein syndrome carbohydrate-deficient glycoprotein syndrome carbohydrate-deficient glycoprotein syndrome (disorder) carbohydrate-deficient glycoprotein syndromes cdg - carbohydrate-deficient glycoprotein syndrome congenital disorder of glycosylation congenital disorders of glycosylation [disease/finding] glycoprotein syndrome carb defic glycoprotein syndrome, carbohydrate-deficient syndrome, carbohydrate-deficient glycoprotein syndromes, carbohydrate-deficient glycoprotein
Orphanet	ORPHANET:137
DOID	DOID:5212
UMLS	C0282577
MeSH	D018981
SNOMED-CT	SNOMEDCT_US_2016_09_01:238049009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0004134 \| ataxia \| 1 C0162309 \| adrenoleukodystrophy \| 1 C0162309 \| x-linked adrenoleukodystrophy \| 1 C0272375 \| antithrombin deficiency \| 1 C0410528 \| skeletal dysplasia \| 1 C0031039 \| pericardial effusion \| 1 C0282577 \| carbohydrate-deficient glycoprotein syndrome \| 1 C0007758 \| cerebellar ataxia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:41) 3703 \| STT3A \| UniProtKB-KW 84342 \| COG8 \| UniProtKB-KW 85365 \| ALG2 \| UniProtKB-KW 5236 \| PGM1 \| UniProtKB-KW 55343 \| SLC35C1 \| UniProtKB-KW 56052 \| ALG1 \| UniProtKB-KW 10559 \| SLC35A1 \| UniProtKB-KW 7355 \| SLC35A2 \| UniProtKB-KW 440138 \| ALG11 \| UniProtKB-KW 8813 \| DPM1 \| UniProtKB-KW 790 \| CAD \| UniProtKB-KW 64116 \| SLC39A8 \| UniProtKB-KW 116150 \| NUS1 \| UniProtKB-KW 57511 \| COG6 \| UniProtKB-KW 1798 \| DPAGT1 \| UniProtKB-KW 201595 \| STT3B \| UniProtKB-KW 55858 \| TMEM165 \| UniProtKB-KW 29929 \| ALG6 \| UniProtKB-KW 147007 \| TMEM199 \| UniProtKB-KW 10195 \| ALG3 \| UniProtKB-KW 9382 \| COG1 \| UniProtKB-KW 10466 \| COG5 \| UniProtKB-KW 2683 \| B4GALT1 \| UniProtKB-KW 25839 \| COG4 \| UniProtKB-KW 9526 \| MPDU1 \| UniProtKB-KW 6748 \| SSR4 \| UniProtKB-KW 4351 \| MPI \| UniProtKB-KW 5373 \| PMM2 \| UniProtKB-KW 22845 \| DOLK \| UniProtKB-KW 84317 \| CCDC115 \| UniProtKB-KW 1650 \| DDOST \| UniProtKB-KW 79053 \| ALG8 \| UniProtKB-KW 91869 \| RFT1 \| UniProtKB-KW 54344 \| DPM3 \| UniProtKB-KW 8818 \| DPM2 \| UniProtKB-KW 79087 \| ALG12 \| UniProtKB-KW 79868 \| ALG13 \| UniProtKB-KW 79644 \| SRD5A3 \| UniProtKB-KW 4247 \| MGAT2 \| UniProtKB-KW 91949 \| COG7 \| UniProtKB-KW 79796 \| ALG9 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:57) 56999 \| ADAMTS9 \| 1.954 \| DISEASES 92949 \| ADAMTSL1 \| 1.802 \| DISEASES 79087 \| ALG12 \| 5.025 \| DISEASES 79868 \| ALG13 \| 2.916 \| DISEASES 85365 \| ALG2 \| 5.631 \| DISEASES 10195 \| ALG3 \| 4.883 \| DISEASES 29929 \| ALG6 \| 6.55 \| DISEASES 79796 \| ALG9 \| 4.164 \| DISEASES 54829 \| ASPN \| 1.506 \| DISEASES 23545 \| ATP6V0A2 \| 2.836 \| DISEASES 2683 \| B4GALT1 \| 1.793 \| DISEASES 633 \| BGN \| 1.054 \| DISEASES 682 \| BSG \| 1.476 \| DISEASES 825 \| CAPN3 \| 1.202 \| DISEASES 285489 \| DOK7 \| 1.839 \| DISEASES 22845 \| DOLK \| 2.689 \| DISEASES 1798 \| DPAGT1 \| 4.774 \| DISEASES 8813 \| DPM1 \| 3.001 \| DISEASES 8818 \| DPM2 \| 1.351 \| DISEASES 54344 \| DPM3 \| 2.523 \| DISEASES 8291 \| DYSF \| 1.083 \| DISEASES 79147 \| FKRP \| 1.434 \| DISEASES 2530 \| FUT8 \| 1.936 \| DISEASES 2582 \| GALE \| 2.413 \| DISEASES 2592 \| GALT \| 1.562 \| DISEASES 85476 \| GFM1 \| 1.833 \| DISEASES 2762 \| GMDS \| 2.17 \| DISEASES 10020 \| GNE \| 1.39 \| DISEASES 2993 \| GYPA \| 1.954 \| DISEASES 9843 \| HEPH \| 1.884 \| DISEASES 3240 \| HP \| 2.386 \| DISEASES 387755 \| INSC \| 1.929 \| DISEASES 10945 \| KDELR1 \| 2.483 \| DISEASES 3980 \| LIG3 \| 1.025 \| DISEASES 4121 \| MAN1A1 \| 1.004 \| DISEASES 11253 \| MAN1B1 \| 5.107 \| DISEASES 64087 \| MCCC2 \| 2.739 \| DISEASES 25834 \| MGAT4C \| 2.491 \| DISEASES 135935 \| NOBOX \| 2.644 \| DISEASES 116150 \| NUS1 \| 3.073 \| DISEASES 5236 \| PGM1 \| 3.871 \| DISEASES 5238 \| PGM3 \| 2.974 \| DISEASES 23509 \| POFUT1 \| 2.36 \| DISEASES 23275 \| POFUT2 \| 3.09 \| DISEASES 5730 \| PTGDS \| 2.435 \| DISEASES 4920 \| ROR2 \| 2.045 \| DISEASES 5265 \| SERPINA1 \| 2.929 \| DISEASES 6906 \| SERPINA7 \| 2.997 \| DISEASES 462 \| SERPINC1 \| 3.19 \| DISEASES 10559 \| SLC35A1 \| 4.878 \| DISEASES 64116 \| SLC39A8 \| 3.131 \| DISEASES 3703 \| STT3A \| 2.698 \| DISEASES 7018 \| TF \| 5.917 \| DISEASES 55858 \| TMEM165 \| 4.394 \| DISEASES 60684 \| TRAPPC11 \| 2.879 \| DISEASES 7436 \| VLDLR \| 1.262 \| DISEASES 7702 \| ZNF143 \| 2.216 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1005
Disease	congenital disorders of glycosylation
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0002721 \| Immunodeficiency \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001104 \| Macular hypoplasia \| 1 HP:0002304 \| Akinesia \| 1 HP:0001698 \| Pericardial effusions \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0001251 \| Ataxia \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0003155 \| Hyperphosphatasia \| 1 HP:0002652 \| Skeletal dysplasia \| 1 HP:0000969 \| Dropsy \| 1

Disease ID	1005
Disease	congenital disorders of glycosylation
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:12)
Gene	Mutation	DOI	Article Title
ALG6	c.897_899delAAT; c.590A>AC (p.197E>EA) in PMM2, reported allelic change	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
ALG12	IVS8 + 2T>TG, c.29delG, c.824G>GA (p.S275N)	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
ALG8	c.139A>C, pT47P	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
ALG6	c.391T>C, p.Y131H	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
PMM2	c.26G>GA (p.C9Y), c.442G>GA (p.D148N)	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
MPI	c.656G>GA (p.R219Q), c.419T>TC (p.I140T)	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
PMM2	c.422G>A (p.R141H); IVS5 + 22T>TA, IVS5 + 19T>TC	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
MPDUI	c.356T>C (p.L119P)	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
COG8	IVS3 + 1G>GA, c.1687_1688delTT; c.485G>GA (p.162R>RQ), In PMM2, reported allelic change p.R162W	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
RFT1	c.199C>T (p.R67C)	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
COG7	IVS1 + 4A>C; c.1651A>AG (p.551I>IV) in GNE, novel change	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
COG7	c.323_324insT	doi:10.1097/GIM.0b013e318226fbf2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908023	19451548	79796	ALG9	umls:C0282577	BeFree	We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation.	0.000271442	2009	ALG9	11	111853415	T	C
rs16835020	24157261	56052	ALG1	umls:C0282577	BeFree	In contrast to a previously reported speculation on R438W we confirmed both mutations as disease-causing in ALG1-CDG.	0.000542884	2013	ALG1;EEF2KMT	16	5084798	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1005
Disease	congenital disorders of glycosylation
Case	(Waiting for update.)

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