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:
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Limb Deformities, Congenital (D017880)
..Starting node
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Split-Hand/Foot Malformation 4 (C565344)

       Child Nodes:



 Sister Nodes: 
..expandAase Smith syndrome (C535332)
..expandAbruzzo Erickson syndrome (C535559)
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAcromicric dysplasia (C535662) Child1
..expandAcropectoral syndrome (C535664)
..expandAcropectorovertebral Dysplasia, F-Form (C566319)
..expandAcrorenal syndrome recessive (C535666)
..expandAdams Oliver syndrome (C538225)
..expandArachnodactyly (D054119) Child10
..expandArms, Malformation of (C566258)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBagatelle Cassidy syndrome (C537796)
..expandBrachydactyly (D059327) Child54
..expandBrachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..expandBrachyolmia, recessive Hobaek type (C537099)
..expandCalabro syndrome (C537960)
..expandCamptobrachydactyly (C537967)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandChondrodysplasia, acromesomelic, with genital anomalies (C537913)
..expandCOCOON SYNDROME (OMIM:613630)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCraniomicromelic Syndrome (C566522)
..expandDiaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..expandEctrodactyly (C574275)
..expandEctrodactyly-Polydactyly (C565601)
..expandEctromelia (D004480) Child22
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFoot Deformities, Congenital (D005532) Child78
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandFryns syndrome (C538070)
..expandGenee-Wiedemann syndrome (C537680)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHand and foot deformity with flat facies (C535626)
..expandHand Deformities, Congenital (D006228) Child134
..expandHanhart syndrome (C535629)
..expandHeart defects limb shortening (C535850)
..expandHypochondroplasia (C562937)
..expandHypoglossia-Hypodactylia (C566308)
..expandIchthyosis tapered fingers midline groove up (C536272)
..expandKaplan Plauchu Fitch syndrome (C536892)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandKrause-Kivlin syndrome (C537617)
..expandKuster syndrome (C538126)
..expandLaryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..expandLe Marec Bracq Picaud syndrome (C536997)
..expandLimb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..expandLimb Deficiencies, Distal, with Micrognathia (C565437)
..expandLimb-mammary syndrome (C535903)
..expandLower Extremity Deformities, Congenital (D038061) Child89
..expandLynch Lee Murday syndrome (C537713)
..expandMegalodactyly (C562546)
..expandMental retardation spasticity ectrodactyly (C537446)
..expandMesomelia-synostoses syndrome (C537348)
..expandMetaphyseal anadysplasia (C537351)
..expandMetaphyseal Anadysplasia 1 (C567545)
..expandMetaphyseal Anadysplasia 2 (C567771)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNeu Laxova syndrome (C536405)
..expandNievergelt syndrome (C536120)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandPalant cleft palate syndrome (C538102)
..expandPenttinen-Aula syndrome (C536653)
..expandPointer syndrome (C536323)
..expandPolydactyly (D017689) Child61
..expandPostaxial Oligodactyly, Tetramelic (C566767)
..expandPowell Chandra Saal syndrome (C538357)
..expandPropping Zerres syndrome (C538052)
..expandProteus Syndrome (D016715) Child1
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRapadilino syndrome (C535288)
..expandReardon Hall Slaney syndrome (C535294)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRobinow syndrome, autosomal recessive (C535863)
..expandRuzicka Goerz Anton syndrome (C537192)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSplenogonadal fusion limb defects micrognatia (C537318)
..expandSplit hand foot deformity (C535777) Child2
..expandSplit hand foot deformity 1 (C567893)
..expandSplit-Hand And Split-Foot With Hypodontia (C566665)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSplit-Hand/Foot Malformation 4 (C565344)
..expandSplit-Hand/Foot Malformation 5 (C564674)
..expandSplit-Hand/Foot Malformation 6 (C567616)
..expandSplit-hand/foot malformation with long bone deficiency (C536425)
..expandSplit-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..expandSplit-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..expandSteinfeld Syndrome (C566655)
..expandStern Lubinsky Durrie syndrome (C537488)
..expandStratton-Parker Syndrome (C566105)
..expandSyndactyly (D013576) Child69
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTetramelic Monodactyly (C566066)
..expandThanatophoric Dysplasia (D013796) Child8
..expandThoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..expandThoraco limb dysplasia Rivera type (C536516)
..expandThoracomelic Dysplasia (C564773)
..expandUlnar Hypoplasia with Mental Retardation (C564757)
..expandUpper Extremity Deformities, Congenital (D038062) Child145
..expandVACTERL association (C536495)
..expandVACTERL association with hydrocephaly, X-linked (C536520)
..expandVACTERL hydrocephaly (C536521)
..expandViljoen Kallis Voges syndrome (C536349)
..expandWeyers acrofacial dysostosis (C536695)
..expandWright Dyck syndrome (C536749)
..expandYunis Varon syndrome (C536719)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10552
Name:Split-Hand/Foot Malformation 4
Definition:
Alternative IDs:OMIM:605289
ParentIDs:MESH:D017880
TreeNumbers:C05.660.585/C565344 |C16.131.621.585/C565344
Synonyms:SHFM4
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C565344
MeSH: C565344
OMIM: 605289;

Genes: TP63;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005914Aplasia/Hypoplasia involving the metacarpal bones
3 HP:0001964Aplasia/Hypoplasia of metatarsal bones
4 HP:0009767Aplasia/Hypoplasia of the phalanges of the hand
5 HP:0010173Aplasia/Hypoplasia of the phalanges of the toes
6 HP:0100257Ectrodactyly
7 HP:0003812Phenotypic variability
8 HP:0001171Split hand
9 HP:0001159Syndactyly
10 HP:0001199Triphalangeal thumb
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003722.4(TP63):c.289C>T (p.Arg97Cys)8626TP63Pathogenic121908848RCV000006924; NMedGen:C1854442,OMIM:6052893189456528189456528NM_003722.4:c.289C>TNP_003713.3:p.Arg97CysNC_000003.11:g.189456528C>TOMIM Allelic Variant:603273.0023C1854442 605289 Split-hand/foot malformation 4
NM_003722.4(TP63):c.697A>G (p.Lys233Glu)8626TP63Pathogenic121908838RCV000006904; NMedGen:C1854442,OMIM:6052893189582138189582138NM_003722.4:c.697A>GNP_003713.3:p.Lys233GluNC_000003.11:g.189582138A>GOMIM Allelic Variant:603273.0005C1854442 605289 Split-hand/foot malformation 4
NM_003722.4(TP63):c.955C>T (p.Arg319Cys)8626TP63Pathogenic121908839RCV000006905; NMedGen:C1854442,OMIM:6052893189585694189585694NM_003722.4:c.955C>TNP_003713.3:p.Arg319CysNC_000003.11:g.189585694C>TOMIM Allelic Variant:603273.0006C1854442 605289 Split-hand/foot malformation 4