MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
Parent Node:
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Retinal Degeneration (D012162)
..Starting node
..expand
Sveinsson Chorioretinal Atrophy (C566236)

       Child Nodes:



 Sister Nodes: 
..expandCohen syndrome (C536438)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandEnhanced S-Cone Syndrome (C564835)
..expandHyaloideoretinal degeneration of Wagner (C536075)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandJoubert syndrome 4 (C536296)
..expandKnobloch syndrome (C537209)
..expandLate-Onset Retinal Degeneration (C565309)
..expandLattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..expandMacKay Shek Carr syndrome (C538364)
..expandMacular Degeneration (D008268) Child28
..expandMicrophthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..expandMYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..expandNoble Bass Sherman syndrome (C536124)
..expandNorrie disease (C537849)
..expandPigmented Paravenous Chorioretinal Atrophy (C566801)
..expandRetinal Cone Dystrophy 1 (C566719)
..expandRetinal Degeneration and Epilepsy (C564847)
..expandRetinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..expandRetinal Drusen (D015593) Child2
..expandRetinal Dystrophies (D058499) Child143  LSDB C:2
..expandRetinoschisis (D041441) Child1
..expandSnowflake vitreoretinal degeneration (C536677)
..expandSpastic paraplegia 15, autosomal recessive (C536642)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
..expandSveinsson Chorioretinal Atrophy (C566236)
..expandVitreoretinochoroidopathy (C536352)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11838
Name:Sveinsson Chorioretinal Atrophy
Definition:
Alternative IDs:OMIM:108985
ParentIDs:MESH:D003317|MESH:D012162
TreeNumbers:C11.204.236/C566236 |C11.270.162/C566236 |C11.270.612/C566236 |C11.768.585/C566236 |C16.320.290.162/C566236
Synonyms:AA |Atrophia Areata |Helicoidal Peripapillary Chorioretinal Degeneration |HPCD |Peripapillary Chorioretinal Degeneration, Icelandic Type |SCRA
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C566236
MeSH: C566236
OMIM: 108985;
MSeqDR LSDB:  
Genes: TEAD1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000483Astigmatism
3 HP:0000545Myopia
4 HP:0007950Peripapillary chorioretinal atrophy
5 HP:0003677Slow progression
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter)64218SEMA4APathogenic-1RCV001199781; NMONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:868131156132736156132736CT1:g.156132736C>T-
NM_021961.6(TEAD1):c.331-907AT[4]7003TEAD1Benignrs10543484RCV000988488; NMONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813111290034812900349CATC11:g.12900348_12900349del-
NM_021961.6(TEAD1):c.675C>T (p.Leu225=)7003TEAD1Benign/Likely benignrs148823826RCV000625341|RCV000891085; NMONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813|MedGen:CN517202111290464812904648CT11:g.12904648C>TClinGen:CA5891702
NM_021961.6(TEAD1):c.1261T>C (p.Tyr421His)7003TEAD1Pathogenicrs11567847RCV000013465; NMONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813111295874912958749TC11:g.12958749T>CClinGen:CA122593,OMIM:189967.0001C1862382 108985 Sveinsson chorioretinal atrophy;
NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn)7003TEAD1Uncertain significance-1RCV001264402; NMONDO:MONDO:0007176,MedGen:C1862382,OMIM:108985, Orphanet:86813111295874912958749TA11:g.12958749T>A-
MSeqDR Portal