MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Lymphedema (D008209)
..Starting node
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Lymphedema distichiasis syndrome (C537710)

       Child Nodes:



 Sister Nodes: 
..expandAagenaes syndrome (C535330)
..expandBreast Cancer Lymphedema (D000072656)
..expandCHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
..expandDahlberg Borer Newcomer syndrome (C535769)
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandElephantiasis (D004604)
..expandElephantiasis, Filarial (D004605)
..expandGerman Syndrome (C562543)
..expandHennekam lymphangiectasia lymphedema syndrome (C537255)
..expandHypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..expandHYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
..expandIrons Bhan syndrome (C535539)
..expandLYMPHATIC MALFORMATION 3 (OMIM:613480)
..expandLYMPHATIC MALFORMATION 4 (OMIM:615907)
..expandLYMPHATIC MALFORMATION 6 (OMIM:616843)
..expandLymphedema and Cerebral Arteriovenous Anomaly (C563612)
..expandLymphedema distichiasis syndrome (C537710)
..expandLymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
..expandLymphedema, Congenital Recessive (C565432)
..expandLymphedema, Hereditary, IB (C567452)
..expandLymphedema, Hereditary, II (C562467)
..expandLymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..expandLYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
..expandLymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..expandNon-Filarial Lymphedema (D062846)
..expandWaldmann disease (C536567)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7231
Name:Lymphedema distichiasis syndrome
Definition:
Alternative IDs:OMIM:153400
ParentIDs:MESH:D008209
TreeNumbers:C15.604.496/C537710
Synonyms:Hereditary lymphedema-distichiasis syndrome |LPHDST |Lymphedema-Distichiasis Syndrome |Lymphedema with distichiasis |LYMPHEDEMA WITH DISTICHIASIS LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED
Slim Mappings:Lymphatic disease
Reference: MedGen: C537710
MeSH: C537710
OMIM: 153400;
MSeqDR LSDB:  
Genes: FOXC2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003011Abnormality of the musculature
3 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
4 HP:0000175Cleft palateHP:0040284
5 HP:0000204Cleft upper lipHP:0040284
6 HP:0000509Conjunctivitis
7 HP:0012804Corneal ulceration
8 HP:0009743Distichiasis
9 HP:0001004Lymphedema
10 HP:0001643Patent ductus arteriosus
11 HP:0000613Photophobia
12 HP:0003550Predominantly lower limb lymphedema
13 HP:0000508Ptosis
NAMDC:  Ptosis
14 HP:0000495Recurrent corneal erosions
15 HP:0001636Tetralogy of Fallot
16 HP:0002619Varicose veins
17 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000016.10:g.(?_86567336)_(86568841_?)del2303FOXC2Likely pathogenic-1RCV000761279; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660094286602447nana-
NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe)2303FOXC2Pathogenicrs1043354227RCV000735836; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660106386601063AT16:g.86601063A>TOMIM:602402.0015
NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs)2303FOXC2Pathogenicrs1567571065RCV000007676; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660114086601141CCCT16:g.86601140_86601141insCTLOVD 3:FOXC2_000019,OMIM:602402.0006
NM_005251.3(FOXC2):c.209dup (p.Val71fs)2303FOXC2Pathogenicrs1567571075RCV000007675; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660114986601150CCT16:g.86601149_86601150insTLOVD 3:FOXC2_000018,OMIM:602402.0005
NM_005251.3(FOXC2):c.290_300del (p.Gly97fs)2303FOXC2Pathogenicrs1567571141RCV000007673; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660123086601240CGGCATCTACCAC16:g.86601230_86601240delOMIM:602402.0003
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)2303FOXC2Pathogenicrs104894516RCV000007671; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660123886601238CG16:g.86601238C>GClinGen:CA254124,OMIM:602402.0001C0265345 153400 Distichiasis-lymphedema syndrome;
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter)2303FOXC2Likely pathogenicrs1974216738RCV001172315; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660128886601288GA16:g.86601288G>A-
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)2303FOXC2Pathogenic/Likely pathogenicrs1567571184RCV000735835|RCV001289872; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001|MedGen:CN235283168660130286601302CT16:g.86601302C>TOMIM:602402.0014
NM_005251.3(FOXC2):c.362G>A (p.Arg121His)2303FOXC2Pathogenicrs121909107RCV000007683; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660130386601303GA16:g.86601303G>AClinGen:CA254127,OMIM:602402.0013C0265345 153400 Distichiasis-lymphedema syndrome;
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu)2303FOXC2Pathogenicrs121909106RCV000007682; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660131586601315CT16:g.86601315C>TClinGen:CA254126,UniProtKB:Q99958#VAR_018418,OMIM:602402.0012C0265345 153400 Distichiasis-lymphedema syndrome;
NM_005251.3(FOXC2):c.509del (p.Lys170fs)2303FOXC2Pathogenicrs1567571276RCV000007678; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660144686601446CAC16:g.86601446_86601446delOMIM:602402.0008,LOVD 3:FOXC2_000015
NM_005251.3(FOXC2):c.563_573del (p.Pro188fs)2303FOXC2Pathogenicrs1974220729RCV001269288; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660150286601512CCCCGGCGGCGTC16:g.86601502_86601512del-
NM_005251.3(FOXC2):c.588dup (p.Thr197fs)2303FOXC2Pathogenicrs1567571345RCV000007677; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660152786601528GGC16:g.86601527_86601528insCLOVD 3:FOXC2_000014,OMIM:602402.0007
NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp)2303FOXC2Pathogenicrs1567571360RCV000007681; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660154386601622CGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAGACAAA16:g.86601544_86601622delLOVD 3:FOXC2_000034,OMIM:602402.0011C0265345 153400 Distichiasis-lymphedema syndrome;
NM_005251.3(FOXC2):c.710dup (p.Gln238fs)2303FOXC2Pathogenicrs1974224118RCV001289547; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660165086601651CCT86601650-
NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg)2303FOXC2Uncertain significancers966178183RCV001332585; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660170186601701GC86601701-
NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp)2303FOXC2Uncertain significancers1974225710RCV001332586; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660172386601723CA86601723-
NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs)2303FOXC2Pathogenicrs1567571564RCV000007679; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660185586601862TACGCCGCCT16:g.86601855_86601862delOMIM:602402.0009
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter)2303FOXC2Likely pathogenicrs1597402936RCV000853361; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660188086601880CG16:g.86601880C>G-
NM_005251.3(FOXC2):c.973del (p.Ala325fs)2303FOXC2Pathogenicrs1974229664RCV001334377; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660191186601911CGC86601910-
NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs)2303FOXC2Pathogenicrs1567571702RCV000007672; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660202986602030GGCGGC16:g.86602029_86602030insCGGCOMIM:602402.0002
NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu)2303FOXC2Pathogenicrs1567571823RCV000735837; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660214686602146CT16:g.86602146C>TOMIM:602402.0016
NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter)2303FOXC2Pathogenicrs1567571863RCV000735838; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660219986602199CT16:g.86602199C>TOMIM:602402.0017
NM_005251.3(FOXC2):c.1331del (p.Gln444fs)2303FOXC2Pathogenicrs1597403198RCV000007674; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001168660227286602272CAC16:g.86602272_86602272delLOVD 3:FOXC2_000017,OMIM:602402.0004C0265345 153400 Distichiasis-lymphedema syndrome;
NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg)2303FOXC2Conflicting interpretations of pathogenicityrs147258453RCV000660533|RCV000878757; NMONDO:MONDO:0007922,MedGen:C0265345,OMIM:153400, Orphanet:33001|MedGen:CN517202168660227286602272AG16:g.86602272A>G-C0265345 153400 Distichiasis-lymphedema syndrome;
MSeqDR Portal