MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Congenital Disorders of Glycosylation (D018981)
..Starting node
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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)

       Child Nodes:



 Sister Nodes: 
..expandColoboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities (C567328)
..expandCONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
..expandCongenital disorder of glycosylation type 1A (C535739)
..expandCongenital disorder of glycosylation type 1B (C535740)
..expandCongenital disorder of glycosylation type 1C (C535741)
..expandCongenital disorder of glycosylation type 1D (C535742)
..expandCongenital disorder of glycosylation type 1E (C535743)
..expandCongenital disorder of glycosylation type 1F (C535744)
..expandCongenital disorder of glycosylation type 1G (C535745)
..expandCongenital disorder of glycosylation type 1H (C535746)
..expandCongenital disorder of glycosylation type 1I (C000623088)
..expandCongenital disorder of glycosylation type 1J (C535748)
..expandCongenital disorder of glycosylation type 1K (C535749)
..expandCongenital disorder of glycosylation type 1L (C535750)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandCongenital disorder of glycosylation type 2A (C535752)
..expandCongenital disorder of glycosylation type 2D (C535753)
..expandCongenital disorder of glycosylation type 2E (C535754)
..expandCongenital disorder of glycosylation type II (C535747)
..expandCongenital disorder of glycosylation, type 2C (C535755)
..expandCongenital disorder of glycosylation, type 2G (C535756)
..expandCongenital Disorder Of Glycosylation, Type I-IIX (C562844)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
..expandCongenital Disorder Of Glycosylation, Type IIB (C565264)
..expandCongenital Disorder Of Glycosylation, Type IIF (C567040)
..expandCongenital Disorder Of Glycosylation, Type IIH (C566987)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
..expandCongenital Disorder Of Glycosylation, Type IIID (C564625)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp (OMIM:616829)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
..expandCongenital Disorder Of Glycosylation, Type Im (C563666)
..expandCongenital Disorder Of Glycosylation, Type In (C567437)
..expandCongenital Disorder of Glycosylation, Type Io (C567857)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (OMIM:613661)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
..expandCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
..expandNGLY1 deficiency (C000626124)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2930
Name:CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix
Definition:
Alternative IDs:DO:DOID:0050570
ParentIDs:MESH:D018981
TreeNumbers:C16.320.565.202.125/615597 |C18.452.648.202.125/615597
Synonyms:CDG1X |CDGIx |CDG Ix
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: 615597
MeSH: 615597
OMIM: 615597;
MSeqDR LSDB:  
Genes: STT3B;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0001272Cerebellar atrophy
4 HP:0000028Cryptorchidism
5 HP:0003819Death in childhood
6 HP:0001410Decreased liver function
7 HP:0001508Failure to thrive
8 HP:0011968Feeding difficulties
9 HP:0001290Generalized hypotonia
10 HP:0001263Global developmental delay
NAMDC:  Mental retardation
11 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
12 HP:0001249Intellectual disability
13 HP:0001511Intrauterine growth retardation
14 HP:0000252Microcephaly
15 HP:0000054Micropenis
16 HP:0000648Optic atrophy
17 HP:0002098Respiratory distress
18 HP:0000046Scrotal hypoplasia
19 HP:0001250Seizures
NAMDC:  Seizures
20 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser)201595STT3BBenignrs527396203RCV000871469; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433157462631574626GA3:g.31574626G>A-
NM_178862.3(STT3B):c.141C>T (p.Gly47=)201595STT3BBenign/Likely benignrs367626371RCV000602765|RCV000872504; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433157463131574631CT3:g.31574631C>TClinGen:CA2294881CN169374 not specified;
NM_178862.3(STT3B):c.171G>A (p.Gly57=)201595STT3BLikely benignrs1430886809RCV000904693; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433157466131574661GA3:g.31574661G>A-
NM_178862.3(STT3B):c.314+9C>T201595STT3BLikely benignrs549989552RCV000902446; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433157481331574813CT3:g.31574813C>T-
NM_178862.3(STT3B):c.372T>C (p.Asn124=)201595STT3BBenignrs150886803RCV000615337|RCV000872906; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433161794531617945TC3:g.31617945T>CClinGen:CA2294929CN169374 not specified;
NM_178862.3(STT3B):c.477A>G (p.Thr159=)201595STT3BBenignrs139496568RCV000435378|RCV000871128; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433162135431621354AG3:g.31621354A>GClinGen:CA2294957CN169374 not specified;
NM_178862.3(STT3B):c.619A>G (p.Ile207Val)201595STT3BUncertain significancers780102016RCV000626086; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433162149631621496AG3:g.31621496A>GClinGen:CA2294977C2931007 615597 Congenital disorder of glycosylation type 1x;
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)201595STT3BUncertain significancers1008042824RCV000807197; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433163833631638336GC3:g.31638336G>C-
NM_178862.3(STT3B):c.777+7T>G201595STT3BBenignrs76400963RCV000419623|RCV000550122; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433163836231638362TG3:g.31638362T>GClinGen:CA2295010C2931007 615597 Congenital disorder of glycosylation type 1x;
NM_178862.3(STT3B):c.895A>G (p.Ile299Val)201595STT3BLikely benignrs141238380RCV000709840|RCV000946408; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:370924|MedGen:CN51720233165661431656614AG3:g.31656614A>G-
NM_178862.3(STT3B):c.1071A>G (p.Val357=)201595STT3BLikely benignrs976102255RCV000884242; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433165851531658515AG3:g.31658515A>G-
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val)201595STT3BUncertain significance-1RCV001053313; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433166360331663603AG3:g.31663603A>G-
NM_178862.3(STT3B):c.1539+20G>T201595STT3BPathogenicrs587777217RCV000088685; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433166382031663820GT3:g.31663820G>TClinGen:CA249895,OMIM:608605.0001C2931007 615597 Congenital disorder of glycosylation type 1x;
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=)201595STT3BBenignrs34176522RCV000421060|RCV000651960; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433166644231666442CT3:g.31666442C>TClinGen:CA2295275C2931007 615597 Congenital disorder of glycosylation type 1x;
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln)201595STT3BUncertain significance-1RCV001247933; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433166761831667618GA3:g.31667618G>A-
NM_178862.3(STT3B):c.2322A>G (p.Ala774=)201595STT3BBenign/Likely benignrs140420950RCV000444139|RCV000871995; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433167456131674561AG3:g.31674561A>GClinGen:CA2295389CN169374 not specified;
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)201595STT3BUncertain significancers139208333RCV000811239; NMONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433167460531674605AG3:g.31674605A>G-
NM_178862.3(STT3B):c.2406C>A (p.Thr802=)201595STT3BBenignrs17027884RCV000603300|RCV000870945; NMedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597, Orphanet:37092433167748131677481CA3:g.31677481C>AClinGen:CA2295425CN169374 not specified;
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