MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
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Abnormalities, Multiple (D000015)
Parent Node:
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Craniofacial Abnormalities (D019465)
Parent Node:
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Dandy-Walker Syndrome (D003616)
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Heart Septal Defects, Atrial (D006344)
..Starting node
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3C syndrome (C535313)

       Child Nodes:



 Sister Nodes: 
..expand3C syndrome (C535313)
..expandAtrial Septal Defect 1 (C566239)
..expandAtrial septal defect 2 (C538263)
..expandAtrial Septal Defect 3 (C563540)
..expandAtrial Septal Defect 4 (C566963)
..expandAtrial Septal Defect 5 (C567561)
..expandAtrial Septal Defect 6 (C567764)
..expandATRIAL SEPTAL DEFECT 8 (OMIM:614433)
..expandATRIAL SEPTAL DEFECT 9 (OMIM:614475)
..expandAtrial Septal Defect Sinus Venosus (C548009)
..expandAtrial Septal Defect with Atrioventricular Conduction Defects (C566238) Child1
..expandAtrial Septal Defect, Secundum Type (C566241)
..expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandCiuffo Syndrome (C566733)
..expandDursun Syndrome (C567804)
..expandForamen Ovale, Patent (D054092)
..expandHolt-Oram syndrome (C535326)
..expandIrons Bhan syndrome (C535539)
..expandLutembacher Syndrome (D008185)
..expandLYMPHATIC MALFORMATION 7 (OMIM:617300)
..expandLymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..expandOculootofacial Dysplasia (C563682)
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRapadilino syndrome (C535288)
..expandTel Hashomer camptodactyly syndrome (C536953)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16
Name:3C syndrome
Definition:
Alternative IDs:DO:DOID:0060565|OMIM:220210|OMIM:300963
ParentIDs:MESH:D000015|MESH:D003616|MESH:D006344|MESH:D019465
TreeNumbers:C05.660.207/C535313 |C10.228.140.252.300/C535313 |C10.228.140.602.500/C535313 |C10.500.205/C535313 |C14.240.400.560.375/C535313 |C14.280.400.560.375/C535313 |C16.131.077/C535313 |C16.131.240.400.560.375/C535313 |C16.131.621.207/C535313 |C16.131.666.205/C535313
Synonyms:3C SYNDROME |CCC dysplasia |Craniocerebellocardiac dysplasia |Dandy-Walker-like malformation with atrioventricular septal defect |Ritscher Schinzel syndrome |Ritscher-Schinzel Syndrome |RITSCHER-SCHINZEL SYNDROME 1 |RITSCHER-SCHINZEL SYNDROME 2 |RTSC1 |RTSC2
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C535313
MeSH: C535313
OMIM: 220210;
MSeqDR LSDB:  
Genes: HMGCL; KIAA0196;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000835Adrenal hypoplasia
3 HP:0002023Anal atresia
4 HP:0001650Aortic valve stenosis
5 HP:0001631Atrial septal defect
6 HP:0000248Brachycephaly
7 HP:0000337Broad forehead
8 HP:0000175Cleft palate
9 HP:0000589Coloboma
10 HP:0001305Dandy-Walker malformation
11 HP:0005280Depressed nasal bridge
12 HP:0001719Double outlet right ventricle
13 HP:0000494Downslanted palpebral fissures
14 HP:0001290Generalized hypotonia
15 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
16 HP:0001263Global developmental delay
NAMDC:  Mental retardation
17 HP:0000824Growth hormone deficiency
18 HP:0002937Hemivertebrae
19 HP:0000348High forehead
20 HP:0000238Hydrocephalus
21 HP:0000126Hydronephrosis
22 HP:0000316Hypertelorism
23 HP:0004383Hypoplastic left heart
24 HP:0000047Hypospadias
25 HP:0001511Intrauterine growth retardation
26 HP:0002162Low posterior hairline
27 HP:0000369Low-set ears
28 HP:0000347Micrognathia
29 HP:0000921Missing ribs
30 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
31 HP:0007291Posterior fossa cyst
32 HP:0000269Prominent occiput
33 HP:0001642Pulmonic stenosis
34 HP:0001195Single umbilical artery
35 HP:0001159Syndactyly
36 HP:0001636Tetralogy of Fallot
37 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)28952CCDC22Pathogenicrs863225428RCV000202354|RCV001028073; NMONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963, Orphanet:7|MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7X4909214549092145AGX:g.49092145A>GClinGen:CA279882,UniProtKB:O60826#VAR_065912,OMIM:300859.0001
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)28952CCDC22Pathogenicrs863225429RCV000202351|RCV001028072; NMONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963, Orphanet:7|MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7X4910600449106004AGX:g.49106004A>GClinGen:CA279876,UniProtKB:O60826#VAR_075063,OMIM:300859.0002C4225419 300963 Ritscher-schinzel syndrome 2;
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)56896DPYSL5Uncertain significancers1558337060RCV000779635|RCV001257985; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0017121,MedGen:CN202471, Orphanet:269546|Human Phenotype Ontology:HP:0001305,Human Phenotype Ontology:HP:0001313,Human Phenotype Ontology:HP:0006809,MONDO:MONDO:0009072,MeSH:D003616,M22712150627121506GA2:g.27121506G>A-
NM_014846.4(WASHC5):c.3335+2T>A9897WASHC5Pathogenicrs398123007RCV000077794; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:78126044481126044481AT8:g.126044481A>TClinGen:CA145522,OMIM:610657.0004C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)9897WASHC5Uncertain significancers762522662RCV000816314; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126044549126044549CT8:g.126044549C>T-
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)9897WASHC5Uncertain significancers767608029RCV000707564; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126051109126051109TC8:g.126051109T>C-
NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs)9897WASHC5Pathogenicrs765926045RCV000695561; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126051131126051132AGTA8:g.126051131_126051132del-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)9897WASHC5Uncertain significancers1554591077RCV000541755; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126051185126051185TC8:g.126051185T>CClinGen:CA372184985C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.2769C>T (p.Val923=)9897WASHC5Uncertain significancers545318648RCV000705074; NMONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989; MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:78126056235126056235GA8:g.126056235G>A-
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)9897WASHC5Uncertain significancers144507279RCV000416031|RCV000638546|RCV001201348; NMedGen:CN517202|MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989; MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7|MONDO:MONDO:0019078,MedGen:C0796137,OMIM:PS220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563,Orpha8126059531126059531TC8:g.126059531T>CClinGen:CA4873528C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del)9897WASHC5Uncertain significancers1554593551RCV000638548; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126067835126067837TTGAT8:g.126067835_126067837delClinGen:CA658797148
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)9897WASHC5Uncertain significancers397515564RCV000701312; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126067843126067843CT8:g.126067843C>T-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)9897WASHC5Uncertain significancers1060502725RCV000463139|RCV000490087; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989|MedGen:CN5172028126067844126067844CT8:g.126067844C>TClinGen:CA16612351
NM_014846.4(WASHC5):c.2016+10C>G9897WASHC5Likely benignrs1260941212RCV000531120; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126068909126068909GC8:g.126068909G>CClinGen:CA658657826C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)9897WASHC5Uncertain significancers763639768RCV000705845; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126068932126068932CA8:g.126068932C>A-
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)9897WASHC5Pathogenicrs80338867RCV000001220|RCV000469759; NMONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989|MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989; MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:78126069059126069059CA8:g.126069059C>AUniProtKB:Q12768#VAR_031957,OMIM:610657.0001,ClinGen:CA339873C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=)9897WASHC5Likely benignrs1044612540RCV000638550; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126069888126069888CA8:g.126069888C>AClinGen:CA185306013C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)9897WASHC5Uncertain significancers761801345RCV000695426; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126071481126071481TC8:g.126071481T>C-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)9897WASHC5Uncertain significancers766713240RCV000811687; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126075875126075875AG8:g.126075875A>G-
NM_014846.4(WASHC5):c.1151-2A>G9897WASHC5Likely pathogenicrs1563627853RCV000691473; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126079963126079963TC8:g.126079963T>C-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg)9897WASHC5Uncertain significance-1RCV001262565; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:78126085412126085412AC8:g.126085412A>C-
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn)9897WASHC5Uncertain significancers753529606RCV000638549; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126087346126087346CT8:g.126087346C>TClinGen:CA4873984C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)9897WASHC5Pathogenicrs1563633906RCV000691067; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126090986126090987GGT8:g.126090986_126090987insT-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)9897WASHC5Pathogenicrs754463353RCV000707560; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126091009126091009GA8:g.126091009G>A-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)9897WASHC5Uncertain significancers1586384678RCV000820564; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126091119126091119CT8:g.126091119C>T-
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)9897WASHC5Pathogenicrs1362286755RCV000801874; NMONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989; MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:78126091165126091165GA8:g.126091165G>A-
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)9897WASHC5Pathogenicrs1462319941RCV000698728; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126093910126093910GA8:g.126093910G>A-
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)9897WASHC5Conflicting interpretations of pathogenicityrs148562491RCV000988116|RCV000999068; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7|MedGen:CN5172028126094001126094001AT8:g.126094001A>T-
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg)9897WASHC5Uncertain significancers1563636568RCV000705612; NMONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:7; MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:1009898126094629126094629AC8:g.126094629A>C-C0796137 220210 Dandy-Walker like malformation with atrioventricular septal defect;
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)9897WASHC5Uncertain significancers751591590RCV000800216; NMONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563, Orphanet:100989; MONDO:MONDO:0009073,MedGen:C4551776,OMIM:220210, Orphanet:78126095975126095975AG8:g.126095975A>G-
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