Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandSyndactyly (D013576)
..Starting node
..expandSynpolydactyly 1 (C566094)

       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)
..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)
..expandSTAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
..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)
..expandSynpolydactyly 1 (C566094)
..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, CTD
Term ID:10820
Name:Synpolydactyly 1
Definition:
Alternative IDs:OMIM:186000
ParentIDs:MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C566094 |C05.660.585.800/C566094 |C05.660.906.819/C566094 |C16.131.621.585.800/C566094 |C16.131.621.906.819/C566094
Synonyms:SPD1 |Syndactyly, Type II |SYNDACTYLY, TYPE II SYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566094
MeSH: C566094
OMIM: 186000;

Genes: HOXD13;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00080832nd-5th toe middle phalangeal hypoplasia
3 HP:00060973-4 finger syndactyly
4 HP:00046924-5 toe syndactyly
5 HP:00015016 metacarpals
6 HP:0010055Broad hallux
7 HP:0004209Clinodactyly of the 5th finger
8 HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger
9 HP:0006101Finger syndactyly
10 HP:0006159Mesoaxial hand polydactyly
11 HP:0001830Postaxial foot polydactyly
12 HP:0001841Preaxial foot polydactylyHP:0040283
13 HP:0004220Short middle phalanx of the 5th finger
14 HP:0006042Y-shaped metacarpals
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000523.3(HOXD13):c.169_171GCG(15_22) (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)3239HOXD13Pathogenic193922939RCV000015992; NMedGen:C1861367,OMIM:186000,ORPHA:2951952176957787176957789NM_000523.3:c.169_171GCG(15_22)NP_000514.2:p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaOMIM Allelic Variant:142989.0001C1861367 186000 Synpolydactyly 1
NM_000523.3(HOXD13):c.683G>T (p.Gly228Val)3239HOXD13Pathogenic121912541RCV000016004; NMedGen:C1861367,OMIM:186000,ORPHA:2951952176958301176958301NM_000523.3:c.683G>TNP_000514.2:p.Gly228ValNC_000002.11:g.176958301G>TOMIM Allelic Variant:142989.0011C1861367 186000 Synpolydactyly 1
NM_000523.3(HOXD13):c.916C>T (p.Arg306Trp)3239HOXD13Pathogenic28933082RCV000016000; NMedGen:C1861367,OMIM:186000,ORPHA:2951952176959342176959342NM_000523.3:c.916C>TNP_000514.2:p.Arg306TrpNC_000002.11:g.176959342C>TOMIM Allelic Variant:142989.0007C1861367 186000 Synpolydactyly 1