MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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
Parent Node: Hydranencephaly (D006832)
..Starting node ..Encephaloclastic Proliferative Vasculopathy (C565593)
Child Nodes:
Sister Nodes:
..Encephaloclastic Proliferative Vasculopathy (C565593)
..Hydranencephaly with Renal Aplasia-Dysplasia (C565507)
..Microhydranencephaly (C537555)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4107

Name:

Encephaloclastic Proliferative Vasculopathy

Definition:

Alternative IDs:

OMIM:225790

ParentIDs:

MESH:D006832

TreeNumbers:

C10.500.450/C565593 |C16.131.666.450/C565593

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C565593
MeSH: C565593
OMIM: 225790;
MSeqDR :
Genes: F13A1; FLVCR2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0001274	Agenesis of corpus callosum
4	HP:0001321	Cerebellar hypoplasia
5	HP:0001305	Dandy-Walker malformation
6	HP:0001371	Flexion contracture
7	HP:0002324	Hydranencephaly
8	HP:0000238	Hydrocephalus
9	HP:0002365	Hypoplasia of the brainstem
10	HP:0001511	Intrauterine growth retardation
11	HP:0000347	Micrognathia
12	HP:0001561	Polyhydramnios
13	HP:0001622	Premature birth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_017791.2(FLVCR2):c.-356G>C	55640	FLVCR2	Benign	rs3813550	RCV000366974\|RCV001636892;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MedGen:CN517202	14	76044960	76044960	NC_000014.8:g.76044960G>C	ClinGen:CA10644946	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.-121CT[1]	55640	FLVCR2	Benign	rs1322268460	RCV000274666\|RCV001786362;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MedGen:CN517202	14	76045194	76045195	NC_000014.8:g.76045195CT[1]	ClinGen:CA10646159	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	55640	FLVCR2	Benign	rs2287015	RCV000081864\|RCV000326404\|RCV001701741\|RCV001682783;	N	MedGen:CN169374\|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033, Orphanet:88628\|MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MedGen:CN517202	14	76045362	76045362	14:g.76045362T>C	ClinGen:CA148899,UniProtKB:Q9UPI3#VAR_018271	CN169374 not specified;
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle)	55640	FLVCR2	Uncertain significance	rs746459536	RCV000001146\|RCV000778098;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033, Orphanet:88628	14	76045644	76045649	14:g.76045644_76045649del	OMIM:610865.0002	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.391dup (p.Met131fs)	55640	FLVCR2	Likely pathogenic	rs1594785775	RCV000826106;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76045705	76045706	14:g.76045705_76045706insA	-
NM_017791.3(FLVCR2):c.402C>G (p.Tyr134Ter)	55640	FLVCR2	Pathogenic	rs759296326	RCV000023841;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76045717	76045717	NC_000014.8:g.76045717C>G	OMIM:610865.0008,ClinGen:CA7278205	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.473C>A (p.Ser158Ter)	55640	FLVCR2	Pathogenic	rs138495705	RCV000001148;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76045788	76045788	14:g.76045788C>A	ClinGen:CA114747,OMIM:610865.0004	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	55640	FLVCR2	Benign	rs2287016	RCV000081865\|RCV000373082\|RCV001701742\|RCV001711250;	N	MedGen:CN169374\|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033, Orphanet:88628\|MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MedGen:CN517202	14	76045858	76045858	14:g.76045858G>A	ClinGen:CA148901	CN169374 not specified;
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)	55640	FLVCR2	Benign	rs2287017	RCV000081866\|RCV000338326\|RCV001701498\|RCV001711251;	N	MedGen:CN169374\|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033, Orphanet:88628\|MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MedGen:CN517202	14	76045963	76045963	14:g.76045963C>G	ClinGen:CA148903	CN169374 not specified;
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg)	55640	FLVCR2	Uncertain significance	rs267606823	RCV000001149\|RCV000778099;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033, Orphanet:88628	14	76090982	76090982	14:g.76090982C>G	ClinGen:CA114749,UniProtKB:Q9UPI3#VAR_064043,OMIM:610865.0005	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.908G>A (p.Arg303Gln)	55640	FLVCR2	Uncertain significance	-1	RCV003144067;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76091051	76091051	NC_000014.8:g.76091051G>A	-
NM_017791.3(FLVCR2):c.977C>T (p.Ala326Val)	55640	FLVCR2	Pathogenic	rs267606824	RCV000001150;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76099996	76099996	14:g.76099996C>T	ClinGen:CA114750,UniProtKB:Q9UPI3#VAR_064412,OMIM:610865.0006	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.1019C>T (p.Pro340Leu)	55640	FLVCR2	Uncertain significance	rs750773606	RCV001334949\|RCV002546708;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126\|MedGen:CN517202	14	76100038	76100038	76100038	-
NM_017791.3(FLVCR2):c.1192C>G (p.Leu398Val)	55640	FLVCR2	Pathogenic	rs267606822	RCV000001147;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76105762	76105762	14:g.76105762C>G	ClinGen:CA114746,UniProtKB:Q9UPI3#VAR_064044,OMIM:610865.0003	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.1276G>A (p.Ala426Thr)	55640	FLVCR2	Uncertain significance	-1	RCV002284978;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76107338	76107338	76107338	-
NM_017791.3(FLVCR2):c.1289C>G (p.Thr430Arg)	55640	FLVCR2	Pathogenic	rs267606825	RCV000001145;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76107351	76107351	14:g.76107351C>G	ClinGen:CA114745,UniProtKB:Q9UPI3#VAR_064045,OMIM:610865.0001	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.1289C>T (p.Thr430Met)	55640	FLVCR2	Pathogenic	rs267606825	RCV000626319;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76107351	76107351	14:g.76107351C>T	ClinGen:CA7278510,OMIM:610865.0009	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)	55640	FLVCR2	Likely pathogenic	-1	RCV001844348;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76107380	76107380	76107380	-
NM_017791.3(FLVCR2):c.1341+2T>C	55640	FLVCR2	Pathogenic	rs780523767	RCV000001151;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76107405	76107405	NC_000014.8:g.76107405T>C	ClinGen:CA7278524,OMIM:610865.0007	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.*734del	55640	FLVCR2	Uncertain significance	rs538801836	RCV000374637;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76113549	76113549	NC_000014.8:g.76113549del	ClinGen:CA10646195	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.*1085T>G	55640	FLVCR2	Uncertain significance	rs886050790	RCV000387155;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76113900	76113900	NC_000014.8:g.76113900T>G	ClinGen:CA10635361	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.*1413GT[9]	55640	FLVCR2	Uncertain significance	rs138622317	RCV000392116;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76114226	76114227	NC_000014.8:g.76114228GT[9]	ClinGen:CA10635362	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;
NM_017791.3(FLVCR2):c.1411_1412del	55640	FLVCR2	Uncertain significance	rs764857255	RCV000352311;	N	MONDO:MONDO:0009168,MedGen:C1856972,OMIM:225790, Orphanet:221126	14	76114226	76114227	NC_000014.8:g.76114226_76114227del	ClinGen:CA10646201	C1856972 225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome;

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