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:4004
Name:Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Definition:
Alternative IDs:OMIM:601552
ParentIDs:MESH:D004479|MESH:D019465
TreeNumbers:C05.660.207/C563293 |C11.250.300/C563293 |C11.510.598.373/C563293 |C16.131.384.405/C563293 |C16.131.621.207/C563293
Synonyms:ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM |FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS |FDLAB |TRABOULSI SYNDROME
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease
Reference: MedGen: C563293
MeSH: C563293
OMIM: 601552;
MSeqDR LSDB:  
Genes: ASPH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000444Convex nasal ridge
4 HP:0000689Dental malocclusion
5 HP:0000494Downslanted palpebral fissures
6 HP:0001083Ectopia lentis
7 HP:0001089Iris atrophy
8 HP:0003683Large beaked nose
9 HP:0000568MicrophthalmiaHP:0040283
10 HP:0000448Prominent nose
11 HP:0000278Retrognathia
12 HP:0000445Wide noseHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)444ASPHPathogenicrs374385878RCV000125464; NMONDO:MONDO:0011106,MedGen:C1832167,OMIM:601552, Orphanet:41202286241599262415992GA8:g.62415992G>AClinGen:CA4761483,UniProtKB:Q12797#VAR_071821,OMIM:600582.0002
NM_004318.4(ASPH):c.1852_1856delinsGGG (p.Asn618fs)444ASPHPathogenicrs879255574RCV000125463; NMONDO:MONDO:0011106,MedGen:C1832167,OMIM:601552, Orphanet:41202286243858062438584AGGTTCCC8:g.62438581_62438584delOMIM:600582.0001,ClinGen:CA10575639C1832167 601552 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs;
NM_004318.4(ASPH):c.171G>A (p.Trp57Ter)444ASPHPathogenicrs1563580963RCV000761586; NMONDO:MONDO:0011106,MedGen:C1832167,OMIM:601552, Orphanet:41202286259668062596680CT8:g.62596680C>TOMIM:600582.0003
MSeqDR Portal