MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHand Deformities, Congenital (D006228)
..Starting node
..expandBRACHYDACTYLY, TYPE E2 (OMIM:613382)

       Child Nodes:



 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAcheiropodia (C536014)
..expandAcrofacial dysostosis Rodriguez type (C538183)
..expandAcrofacial dysostosis, Palagonia type (C538185)
..expandAcrootoocular Syndrome (C564866)
..expandAcrorenal Syndrome (C563159)
..expandAdactylia, Unilateral (C562417)
..expandAnonychia-Ectrodactyly (C566277)
..expandAnonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
..expandAphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandBanki Syndrome (C566228)
..expandBRACHYDACTYLY, TYPE E1 (OMIM:113300)
..expandBRACHYDACTYLY, TYPE E2 (OMIM:613382)
..expandCamptodactyly 1 (C567780)
..expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
..expandCamptodactyly syndrome Guadalajara type 1 (C537970)
..expandCamptodactyly syndrome Guadalajara type 2 (C537971)
..expandCamptodactyly taurinuria (C537972)
..expandCamptodactyly vertebral fusion (C537973)
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCamptodactyly-ichthyosis syndrome (C537976)
..expandCamptosynpolydactyly, Complex (C564383)
..expandCarnevale Hernandez Castillo syndrome (C535585)
..expandCatel Manzke syndrome (C535347)
..expandCATSHL syndrome (C537975)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCoffin-Siris syndrome (C536436)
..expandCranioacrofacial Syndrome (C565147)
..expandCraniosynostosis, Adelaide Type (C563471)
..expandCrisponi syndrome (C536214)
..expandDaneman Davy Mancer syndrome (C535986)
..expandDeafness, congenital onychodystrophy, recessive form (C538204)
..expandDigitorenocerebral Syndrome (C563052)
..expandDigitotalar Dysmorphism (C565097)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandDystelephalangy (C538000)
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate (C565065)
..expandEctrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 (C565062)
..expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 (C565799)
..expandEctrodactyly-Cleft Palate Syndrome (C565064)
..expandEiken Skeletal Dysplasia (C564010)
..expandFacial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..expandFairbank disease (C536393)
..expandFemur bifid with monodactylous ectrodactyly (C537917)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandFrontootopalatodigital Osteodysplasia (C567578)
..expandFuhrmann syndrome (C538189)
..expandGoodman camptodactyly (C537287)
..expandGordon syndrome (C537288)
..expandGrowth mental deficiency syndrome of Myhre (C537620)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHairy palms and soles (C535620)
..expandHand foot uterus syndrome (C535627)
..expandHeart-hand syndrome, Slovenian type (C535852)
..expandHecht Scott syndrome (C535856)
..expandHoloprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate (C564484)
..expandHydrolethalus syndrome (C536079)
..expandJacobs syndrome (C537560)
..expandJohnson Munson syndrome (C535881)
..expandKeutel syndrome (C536167)
..expandLaurin-Sandrow syndrome (C535689)
..expandLeri pleonosteosis (C537118)
..expandMacrodactyly of the hand (C537720)
..expandMAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..expandMetacarpal 4 5 Fusion (C564100)
..expandMetaphyseal acroscyphodysplasia (C537350)
..expandMichels Caskey syndrome (C537576)
..expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
..expandMononen Karnes Senac syndrome (C535914)
..expandMorillo-Cucci Passarge syndrome (C536983)
..expandMuller Barth Menger syndrome (C537370)
..expandNeurofaciodigitorenal syndrome (C537388)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandOculootoradial syndrome (C535544)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOslam syndrome (C537138)
..expandOto-Palato-digital syndrome type 1 (C536065)
..expandOto-palato-digital syndrome, type 2 (C538089)
..expandOtopalatodigital Spectrum Disorder (C567577)
..expandPatent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782)
..expandPfeiffer Tietze Welte syndrome (C537891)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandProgeroid Facial Appearance with Hand Anomalies (C566563)
..expandPseudotrisomy 13 syndrome (C535829)
..expandPterygium colli mental retardation digital anomalies (C535831)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRhizomelic dysplasia Patterson Lowry type (C537609)
..expandRichieri Costa Guion-Almeida syndrome (C535676)
..expandRichieri Costa Pereira syndrome (C535677)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSaal Bulas syndrome (C537193)
..expandSanderson Fraser syndrome (C537232)
..expandSay Field Coldwell syndrome (C536619)
..expandSchinzel-Giedion syndrome (C536632)
..expandSecond Metatarsal-Metacarpal Syndrome (C564824)
..expandSplit hand split foot nystagmus (C537319)
..expandSplit-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..expandSpondylocamptodactyly (C535779)
..expandStoll Alembik Dott syndrome (C537497)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSymphalangism, C. S. Lewis Type (C566100)
..expandSymphalangism, Distal (C566099) Child1
..expandSYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandSynpolydactyly 2 (C564278)
..expandTabatznik syndrome (C536784)
..expandTeebi Kaurah syndrome (C536948)
..expandTeebi syndrome (C536951)
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendons, Extensor, of Fingers, Anomalous Insertion of (C566068)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTollner Horst Manzke syndrome (C536964)
..expandTrichorhinophalangeal Syndrome, Type III (C566033)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandTriphalangeal Thumb (C573898)
..expandTriphalangeal thumb non opposable (C536562)
..expandTriphalangeal Thumb with Double Phalanges (C566028)
..expandTukel syndrome (C536925)
..expandVan Maldergem Wetzburger Verloes syndrome (C536530)
..expandVentricular extrasystoles perodactyly Robin sequence (C536537)
..expandVohwinkel syndrome (C536457)
..expandWalbaum Titran Durieux Crepin syndrome (C536566)
..expandWeaver syndrome (C536687)
..expandWeaver-Like Syndrome (C562443)
..expandWeyers ulnar ray-oligodactyly syndrome (C536696)
..expandZimmerman Laband syndrome (C536725)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1533
Name:BRACHYDACTYLY, TYPE E2
Definition:
Alternative IDs:DO:DOID:0110976
ParentIDs:MESH:D005532|MESH:D006130|MESH:D006228
TreeNumbers:C05.330.495/613382 |C05.390.408/613382 |C05.660.585.512.380/613382 |C05.660.585.988.425/613382 |C16.131.621.585.512.500/613382 |C16.131.621.585.988.500/613382 |C23.550.393/613382
Synonyms:BDE2
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Pathology (process)
Reference: MedGen: 613382
MeSH: 613382
OMIM: 613382;
MSeqDR LSDB:  
Genes: PTHLH;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001156Brachydactyly
3 HP:0000684Delayed eruption of teethHP:0040283
4 HP:0000677OligodontiaHP:0040283
5 HP:0010049Short metacarpal
6 HP:0010743Short metatarsal
7 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_198965.2(PTHLH):c.534A>G (p.Ter178Trp)5744PTHLHPathogenic267606987RCV000014747; NMONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382, Orphanet:9338712281114922811149212:g.28111492T>CClinGen:CA123417,OMIM:168470.0003C3150644 613382 Brachydactyly type E2;
NM_198965.2(PTHLH):c.358A>T (p.Lys120Ter)5744PTHLHPathogenic267606988RCV000014748; NMONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382, Orphanet:9338712281164472811644712:g.28116447T>AClinGen:CA123419,OMIM:168470.0004C3150644 613382 Brachydactyly type E2;
NM_198965.2(PTHLH):c.179T>C (p.Leu60Pro)5744PTHLHPathogenic267606985RCV000014745; NMONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382, Orphanet:9338712281166262811662612:g.28116626A>GUniProtKB:P12272#VAR_063712,OMIM:168470.0001,ClinGen:CA123415C3150644 613382 Brachydactyly type E2;
NM_198965.2(PTHLH):c.131T>C (p.Leu44Pro)5744PTHLHPathogenic267606986RCV000014746; NMONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382, Orphanet:9338712281166742811667412:g.28116674A>GClinGen:CA123416,UniProtKB:P12272#VAR_063711,OMIM:168470.0002C3150644 613382 Brachydactyly type E2;
NM_198965.2(PTHLH):c.44T>G (p.Leu15Arg)5744PTHLHPathogenic2120670890RCV001553657; NMONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382, Orphanet:9338712281223842812238428122384-
NM_198965.2(PTHLH):c.-22-36A>T5744PTHLHBenign6242RCV001651924|RCV001796648; NMedGen:C3661900|MONDO:MONDO:0013244,MedGen:C3150644,OMIM:613382, Orphanet:9338712281224852812248528122485-
MSeqDR Portal