MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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Arterial Occlusive Diseases (D001157)
Parent Node:
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Brachydactyly (D059327)
Parent Node:
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Heart Defects, Congenital (D006330)
Parent Node:
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Hypertension (D006973)
Parent Node:
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Syndactyly (D013576)
..Starting node
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Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFraser Syndrome (D058497)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:921
Name:Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Definition:
Alternative IDs:OMIM:602531
ParentIDs:MESH:D001157|MESH:D006330|MESH:D006973|MESH:D013576|MESH:D059327
TreeNumbers:C05.116.099.370.894.819/C566529 |C05.660.585.262/C566529 |C05.660.585.800/C566529 |C05.660.906.819/C566529 |C14.240.400/C566529 |C14.280.400/C566529 |C14.907.137/C566529 |C14.907.489/C566529 |C16.131.240.400/C566529 |C16.131.621.585.262/C566529 |C16.131.621.585.80
Synonyms:ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY |Grange Occlusive Arterial Syndrome |GRANGE SYNDROME |GRNG
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566529
MeSH: C566529
OMIM: 602531;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001647Bicuspid aortic valveHP:0040283
3 HP:0001156Brachydactyly
4 HP:0005145Coronary artery stenosisHP:0040283
5 HP:0004325Decreased body weight
6 HP:0001249Intellectual disability
7 HP:0002757Recurrent fractures
8 HP:0001920Renal artery stenosis
9 HP:0100817Renovascular hypertension
10 HP:0001159Syndactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001198906.2(YY1AP1):c.*930G>T55249YY1AP1Pathogenicrs1057519598RCV000417123; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155629714155629714CA1:g.155629714C>AClinGen:CA16044406,OMIM:607860.0003
NM_001198903.1(YY1AP1):c.2390T>A (p.Leu797Ter)55249YY1AP1Pathogenicrs1057519597RCV000417119; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155629725155629725AT1:g.155629725A>TClinGen:CA16044405,OMIM:607860.0002
NM_001198906.2(YY1AP1):c.*428_*431TCTG[1]55249YY1AP1Pathogenicrs759089960RCV000417116; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155630209155630212TCAGAT1:g.155630209_155630212delClinGen:CA1148483,OMIM:607860.0004C1865267 602531 Grange syndrome;
NM_001198903.1(YY1AP1):c.997+23T>G55249YY1AP1Pathogenicrs1558307853RCV000714955; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155642328155642328AC1:g.155642328A>COMIM:607860.0007
NM_001198903.1(YY1AP1):c.826-1G>A55249YY1AP1Pathogenicrs199653824RCV000714980; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155642523155642523CT1:g.155642523C>TOMIM:607860.0006
NM_001198903.1(YY1AP1):c.724C>T (p.Gln242Ter)55249YY1AP1Pathogenicrs749232831RCV000417115; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155646353155646353GA1:g.155646353G>AClinGen:CA16044404,OMIM:607860.0001
NM_018253.3(YY1AP1):c.217C>T (p.Gln73Ter)55249YY1AP1Pathogenicrs1057519599RCV000417120; NMONDO:MONDO:0011243,MedGen:C1865267,OMIM:602531, Orphanet:790941155646413155646413GA1:g.155646413G>AOMIM:607860.0005,ClinGen:CA16044407
MSeqDR Portal