MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Syndactyly (D013576)
..Starting node
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Syndactyly, type v (C538155)

       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:11866
Name:Syndactyly, type v
Definition:
Alternative IDs:OMIM:186300
ParentIDs:MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C538155 |C05.660.585.800/C538155 |C05.660.906.819/C538155 |C16.131.621.585.800/C538155 |C16.131.621.906.819/C538155
Synonyms:SDTY5 |Syndactyly type 5 |Syndactyly with metacarpal and metatarsal fusion
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538155
MeSH: C538155
OMIM: 186300;
MSeqDR LSDB:  
Genes: HOXD13;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00097793-4 toe syndactyly
3 HP:00046924-5 toe syndactyly
4 HP:0001032Absent distal interphalangeal creases
5 HP:0001156Brachydactyly
6 HP:0100490Camptodactyly of finger
7 HP:0009702Carpal synostosis
8 HP:0010554Cutaneous finger syndactyly
9 HP:0006185Enlarged proximal interphalangeal joints
10 HP:0005867Fused fourth and fifth metacarpals
11 HP:0009473Joint contracture of the hand
12 HP:0009882Short distal phalanx of finger
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000165.5(GJA1):c.917G>A (p.Ser306Asn)2697GJA1Pathogenicrs1582558792RCV001029812; NMONDO:MONDO:0008516,MedGen:C1861348,OMIM:186300, Orphanet:934066121768910121768910GA6:g.121768910G>A-
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup)3239HOXD13Pathogenicrs878854345RCV000016001; NMONDO:MONDO:0008516,MedGen:C1861348,OMIM:186300, Orphanet:934062176957822176957823GGGCGGCGGCTGCGGCGGCGGCA2:g.176957822_176957823insGCGGCGGCTGCGGCGGCGGCAClinGen:CA10575528,OMIM:142989.0008C1861348 186300 Syndactyly, type V;
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)3239HOXD13Pathogenicrs1574943406RCV000850561; NHuman Phenotype Ontology:HP:0005627,MONDO:MONDO:0007222,MedGen:C0220664,OMIM:113200; MONDO:MONDO:0008516,MedGen:C1861348,OMIM:186300, Orphanet:93406; Human Phenotype Ontology:HP:0005863,Human Phenotype Ontology:HP:0006115,MONDO:MONDO:0007223,MedGen:C1862102176958359176958362ACCAGA2:g.176958359_176958362del-
NM_000523.4(HOXD13):c.974A>G (p.Gln325Arg)3239HOXD13Pathogenicrs104893635RCV000016002; NMONDO:MONDO:0008516,MedGen:C1861348,OMIM:186300, Orphanet:934062176959400176959400AG2:g.176959400A>GClinGen:CA124418,UniProtKB:P35453#VAR_031652,OMIM:142989.0009C1861348 186300 Syndactyly, type V;
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