MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Retinal Diseases (D012164)
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Retinal Nonattachment, Nonsyndromic Congenital (C565633)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandAngioid Streaks (D000793)
..expandAusems Wittebol-Post Hennekam syndrome (C538272)
..expandBestrophinopathy (C567518)
..expandBESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..expandBietti Crystalline Dystrophy (C535440)
..expandBothnia Retinal Dystrophy (C564392)
..expandCentral Serous Chorioretinopathy (D056833)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandCone Dystrophy (D000077765)
..expandDiabetic Retinopathy (D003930) Child1
..expandEpiretinal Membrane (D019773)
..expandExudative Vitreoretinopathy 4 (C566619)
..expandExudative Vitreoretinopathy 5 (C567648)
..expandEXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
..expandFamilial Exudative Vitreoretinopathy (C580083)
..expandFleck Retina, Familial Benign (C565564)
..expandFLOTCH syndrome (C537065)
..expandFundus Albipunctatus (C562733)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHypertensive Retinopathy (D058437)
..expandIris hypoplasia and glaucoma (C535538)
..expandLeber Congenital Amaurosis (D057130) Child20
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandOculomelic amyoplasia (C537737)
..expandRambaud Galian syndrome (C535283)
..expandRamos Arroyo Clark syndrome (C535286)
..expandRetinal Aplasia (C566720)
..expandRetinal Artery Occlusion (D015356) Child1
..expandRetinal Degeneration (D012162) Child195  LSDB C:2
..expandRetinal Detachment (D012163) Child9
..expandRetinal Dysplasia (D015792) Child2
..expandRETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..expandRetinal Hemorrhage (D012166) Child2
..expandRetinal Neoplasms (D019572) Child3
..expandRetinal Neovascularization (D015861)
..expandRetinal Nonattachment, Nonsyndromic Congenital (C565633)
..expandRetinal Perforations (D012167)
..expandRetinal Telangiectasis (D058456) Child1
..expandRetinal Vasculitis (D031300) Child1
..expandRetinal Vein Occlusion (D012170)
..expandRetinitis (D012173) Child4
..expandRetinopathy of Prematurity (D012178)
..expandRoifman syndrome (C535866)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandVasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandVitreoretinopathy, Proliferative (D018630) Child5
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10690
Name:Retinal Nonattachment, Nonsyndromic Congenital
Definition:
Alternative IDs:OMIM:221900
ParentIDs:MESH:D012164
TreeNumbers:C11.768/C565633
Synonyms:Detachment of Retina, Congenital |NCRNA |PERSISTENT FETAL VASCULATURE |PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE |PHPVAR |RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT |RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL |RNANC
Slim Mappings:Eye disease
Reference: MedGen: C565633
MeSH: C565633
OMIM: 221900;
MSeqDR LSDB:  
Genes: AF8T; ATOH7;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000557Buphthalmos
3 HP:0000518Cataract
NAMDC:  Cataracts
4 HP:0007957Corneal opacity
5 HP:0000565Esotropia
6 HP:0011886Hyphema
7 HP:0000612Iris colobomaHP:0040283
8 HP:0000555Leukocoria
9 HP:0000482Microcornea
10 HP:0000568Microphthalmia
11 HP:0012043Pendular nystagmus
12 HP:0009917Persistent pupillary membrane
13 HP:0000667Phthisis bulbi
14 HP:0011484Posterior synechiae of the anterior chamber
15 HP:0007968Remnants of the hyaloid vascular system
16 HP:0008052Retinal fold
17 HP:0007899Retinal nonattachment Congenital onset
18 HP:0000594Shallow anterior chamber
19 HP:0000554UveitisHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val)220202ATOH7Pathogenicrs587777664RCV000133577; NMONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900, Orphanet:91495106999128969991289TA10:g.69991289T>AClinGen:CA170628,UniProtKB:Q8N100#VAR_072400,OMIM:609875.0002C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive;
NM_145178.4(ATOH7):c.136A>C (p.Asn46His)220202ATOH7Pathogenicrs587777666RCV000133579; NMONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900, Orphanet:91495106999129969991299TG10:g.69991299T>GUniProtKB:Q8N100#VAR_072398,OMIM:609875.0004,ClinGen:CA170630C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive;
NM_145178.4(ATOH7):c.53del (p.Pro18fs)220202ATOH7Uncertain significancers587777665RCV000133578|RCV001364298; NMONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900, Orphanet:91495|MedGen:CN517202106999138269991382CGC10:g.69991382_69991382delClinGen:CA170629,OMIM:609875.0003C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive;
nsv1067883220202ATOH7Pathogenic-1RCV000023792; NMONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900, Orphanet:91495107000712070013642AAGAAGGTTGTAACTGCTAATTCCTGACACGGAAGCATGAAAACCCTTGGAAGCTTAGAGGAGGTTTTGGTAGATCCTGTGATATGTATCATAAGCTAAAGCAATGCTGCANC_000010.10:g.70007125_70013647delClinGen:CA129480,dbVar:nssv3761585,OMIM:609875.0001
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)23554TSPAN12Pathogenicrs878853243RCV000225020|RCV000225062|RCV000225079|RCV001003234; NMONDO:MONDO:0010691,MedGen:C0266526,OMIM:310600, Orphanet:649|MONDO:MONDO:0013218,MedGen:C2750079,OMIM:613310, Orphanet:891|MONDO:MONDO:0009097,MedGen:C1969783,OMIM:221900, Orphanet:91495|Human Phenotype Ontology:HP:0030490,MONDO:MONDO:0019516,MeSH:D0000807120446673120446673CA7:g.120446673C>AClinGen:CA10581517C0266526 310600 Atrophia bulborum hereditaria;
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