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
Term ID:6482
Name:Iridogoniodysgenesis type1
Definition:
Alternative IDs:OMIM:601631
ParentIDs:MESH:D005124|MESH:D005901|MESH:D007499
TreeNumbers:C11.250/C535535 |C11.525.381/C535535 |C11.941.375/C535535 |C16.131.384/C535535
Synonyms:ANTERIOR SEGMENT DYSGENESIS 3 |ASGD3 |GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL |IGDA |IRID1 |Iridogoniodysgenesis anomaly, Autosomal dominant |Iridogoniodysgenesis, Type 1 |IRIS HYPOPLASIA WITH GLAUCOMA
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: C535535
MeSH: C535535
OMIM: 601631;
MSeqDR LSDB:  
Genes: FOXC1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007905Abnormal iris vasculature Juvenile onset
3 HP:0001492Axenfeld anomaly
4 HP:0001320Cerebellar vermis hypoplasiaHP:0040283
5 HP:0009918Ectopia pupillae
6 HP:0002280Enlarged cisterna magnaHP:0040283
7 HP:0000501Glaucoma Juvenile onset
8 HP:0007990Hypoplastic iris stroma
9 HP:0000659Peters anomaly
10 HP:0000627Posterior embryotoxon
11 HP:0000558Rieger anomaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
GRCh37/hg19 6p25.3(chr6:1318643-1837594)x32296FOXC1Pathogenic-1RCV001250451; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483613079291856280nana-1-
NM_001453.3(FOXC1):c.-244C>T2296FOXC1Conflicting interpretations of pathogenicityrs185790394RCV000162083|RCV000991164; NMedGen:CN517202|MONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483616104371610437CT6:g.1610437C>TClinGen:CA235498CN517202 not provided;
NM_001453.3(FOXC1):c.89C>T (p.Ala30Val)2296FOXC1Uncertain significance-1RCV001250450; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483616107691610769CT6:g.1610769C>T-
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met)2296FOXC1Pathogenicrs104893954RCV000008979; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483616109411610941CG6:g.1610941C>GOMIM:601090.0009,ClinGen:CA119641,UniProtKB:Q12948#VAR_007945C1866560 601631 Anterior segment dysgenesis 3;
NM_001453.3(FOXC1):c.349del (p.Asp117fs)2296FOXC1Pathogenicrs1554100953RCV000585805; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483616110271611027CGC6:g.1611027_1611027delClinGen:CA658683435C1866560 601631 Anterior segment dysgenesis 3;
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met)2296FOXC1Pathogenicrs104893958RCV000008969; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483616110581611058CG6:g.1611058C>GClinGen:CA119634,UniProtKB:Q12948#VAR_007816,OMIM:601090.0003C1866560 601631 Anterior segment dysgenesis 3;
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu)2296FOXC1Pathogenicrs104893957RCV000008968; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483616110721611072CT6:g.1611072C>TOMIM:601090.0002,ClinGen:CA119632,UniProtKB:Q12948#VAR_007817C1866560 601631 Anterior segment dysgenesis 3;
NM_001453.3(FOXC1):c.532G>C (p.Asp178His)2296FOXC1Uncertain significancers751970827RCV000536750|RCV000765882; NMONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482, Orphanet:782|MONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483; MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482, Orphanet:782616112121611212GC6:g.1611212G>CClinGen:CA3614768
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)2296FOXC1Benignrs79691946RCV000023070|RCV000153259|RCV000162086|RCV001087974; NMONDO:MONDO:0024456,MedGen:C1866560,OMIM:601631, Orphanet:91483|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011233,MedGen:C2678503,OMIM:602482, Orphanet:782616115691611569CT6:g.1611569C>TClinGen:CA128989,OMIM:601090.0012C1866560 601631 Anterior segment dysgenesis 3;
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