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 deformity 1 (C567893)

       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:10548
Name:Split hand foot deformity 1
Definition:
Alternative IDs:OMIM:183600
ParentIDs:MESH:D017880
TreeNumbers:C05.660.585/C567893 |C16.131.621.585/C567893
Synonyms:ECD |ECTRODACTYLY |SHFD1 |SHFM1 |SHSF1 |SPLIT-HAND DEFORMITY |Split-Hand/Foot Deformity 1 |Split hand foot malformation 1 |Split-Hand/Foot Malformation 1 |SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C567893
MeSH: C567893
OMIM: 183600;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0030680Abnormality of cardiovascular system morphologyHP:0040284
3 HP:0000377Abnormality of the pinnaHP:0040284
4 HP:0010055Broad hallux
5 HP:0000175Cleft palateHP:0040282
6 HP:0030084Clinodactyly
7 HP:0100257Ectrodactyly
8 HP:0001849Foot oligodactylyHP:0040282
9 HP:0001180Hand oligodactylyHP:0040282
10 HP:0000365Hearing impairmentHP:0040284
11 HP:0003829Incomplete penetrance
12 HP:0001249Intellectual disabilityHP:0040284
13 HP:0001839Split footHP:0040281
14 HP:0001171Split handHP:0040281
15 HP:0001159SyndactylyHP:0040282
16 HP:0001199Triphalangeal thumb
17 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_016653.2(ZAK):c.1103T>G (p.Phe368Cys)-1-Pathogenic863225437RCV000202370; RCV000210484; NMedGen:C2931019,OMIM:183600; MedGen:CN235903,OMIM:6168902174097087174097087NM_016653.2:c.1103T>GNP_057737.2:p.Phe368CysOMIM Allelic Variant:609479.0001CN235903 616890 Split-foot malformation with mesoaxial polydactyly; C2931019 183600 Split-hand/foot malformation 1
NM_005221.5(DLX5):c.558G>T (p.Gln186His)1749DLX5Pathogenic398122527RCV000077764; RCV000144532; NMedGen:C2931019,OMIM:183600; MedGen:CN22180979665036096650360NM_005221.5:c.558G>TNP_005212.1:p.Gln186HisNC_000007.13:g.96650360C>AOMIM Allelic Variant:600028.0002CN221809 not provided; C2931019 183600 Split-hand/foot malformation 1
NM_005221.5(DLX5):c.115G>T (p.Glu39Ter)1749DLX5Pathogenic587777842RCV000144533; NMedGen:C2931019,OMIM:18360079665382196653821NM_005221.5:c.115G>TNP_005212.1:p.Glu39Ter7:g.96653821C>AOMIM Allelic Variant:600028.0003C2931019 183600 Split-hand/foot malformation 1