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
..expandSyndactyly Cenani Lenz type (C538150)

       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:10800
Name:Syndactyly Cenani Lenz type
Definition:
Alternative IDs:OMIM:212780
ParentIDs:MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C538150 |C05.660.585.800/C538150 |C05.660.906.819/C538150 |C16.131.621.585.800/C538150 |C16.131.621.906.819/C538150
Synonyms:Cenani-Lenz Syndactyly |CENANI-LENZ SYNDACTYLY SYNDROME |Cenani-Lenz type syndactyly |Cenani syndactylism |CLSS |Syndactyly type 7 |Syndactyly, Type VII
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538150
MeSH: C538150
OMIM: 212780;

Genes: LRP4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000494Downslanted palpebral fissures
3 HP:0000316Hypertelorism
4 HP:0002984Hypoplasia of the radius
5 HP:0003022Hypoplasia of the ulna
6 HP:0000347Micrognathia
7 HP:0011220Prominent forehead
8 HP:0000104Renal agenesis
9 HP:0000089Renal hypoplasia
10 HP:0001159Syndactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002334.3(LRP4):c.1585G>A (p.Asp529Asn)4038LRP4Pathogenic267607220RCV000006040; NMedGen:C1859309,OMIM:212780,ORPHA:3258114691463646914636NM_002334.3:c.1585G>ANP_002325.2:p.Asp529AsnNC_000011.9:g.46914636C>TOMIM Allelic Variant:604270.0001C1859309 212780 Syndactyly Cenani Lenz type
NM_002334.3(LRP4):c.1381A>C (p.Thr461Pro)4038LRP4Pathogenic267607223RCV000006046; NMedGen:C1859309,OMIM:212780,ORPHA:3258114691629946916299NM_002334.3:c.1381A>CNP_002325.2:p.Thr461ProNC_000011.9:g.46916299T>GOMIM Allelic Variant:604270.0006C1859309 212780 Syndactyly Cenani Lenz type
NM_002334.3(LRP4):c.1345G>A (p.Asp449Asn)4038LRP4Pathogenic267607224RCV000006045; NMedGen:C1859309,OMIM:212780,ORPHA:3258114691633546916335NM_002334.3:c.1345G>ANP_002325.2:p.Asp449AsnNC_000011.9:g.46916335C>TOMIM Allelic Variant:604270.0005C1859309 212780 Syndactyly Cenani Lenz type
NM_002334.3(LRP4):c.479G>A (p.Cys160Tyr)4038LRP4Pathogenic267607221RCV000006044; NMedGen:C1859309,OMIM:212780,ORPHA:3258114692100646921006NM_002334.3:c.479G>ANP_002325.2:p.Cys160TyrNC_000011.9:g.46921006C>TOMIM Allelic Variant:604270.0004C1859309 212780 Syndactyly Cenani Lenz type
NM_002334.3(LRP4):c.409G>A (p.Asp137Asn)4038LRP4Pathogenic267607222RCV000006041; NMedGen:C1859309,OMIM:212780,ORPHA:3258114692143546921435NM_002334.3:c.409G>ANP_002325.2:p.Asp137AsnNC_000011.9:g.46921435C>TOMIM Allelic Variant:604270.0002C1859309 212780 Syndactyly Cenani Lenz type