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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Foot Deformities, Congenital (D005532)
Parent Node:
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Hand Deformities, Congenital (D006228)
..Starting node
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Fuhrmann syndrome (C538189)

       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)
..expandChitayat Meunier Hodgkinson syndrome (C535926)
..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
..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, CTD
Term ID:4454
Name:Fuhrmann syndrome
Definition:
Alternative IDs:OMIM:228930
ParentIDs:MESH:D005532|MESH:D006228
TreeNumbers:C05.330.495/C538189 |C05.390.408/C538189 |C05.660.585.512.380/C538189 |C05.660.585.988.425/C538189 |C16.131.621.585.380/C538189 |C16.131.621.585.425/C538189
Synonyms:FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY |FUHRMANN SYNDROME
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538189
MeSH: C538189
OMIM: 228930;

Genes: WNT7A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006143Abnormal finger flexion creasesHP:0040282
3 HP:0001802Absent toenail
4 HP:0000141Amenorrhea
5 HP:0005914Aplasia/Hypoplasia involving the metacarpal bonesHP:0040282
6 HP:0001964Aplasia/Hypoplasia of metatarsal bonesHP:0040282
7 HP:0006262Aplasia/Hypoplasia of the 5th fingerHP:0040282
8 HP:0005613Aplasia/hypoplasia of the femurHP:0040282
9 HP:0006492Aplasia/Hypoplasia of the fibulaHP:0040281
10 HP:0009767Aplasia/Hypoplasia of the phalanges of the hand
11 HP:0006495Aplasia/Hypoplasia of the ulnaHP:0040281
12 HP:0030084Clinodactyly
13 HP:0001374Congenital hip dislocationHP:0040282
14 HP:0002980Femoral bowingHP:0040281
15 HP:0002990Fibular aplasia
16 HP:0006101Finger syndactylyHP:0040283
17 HP:0001849Foot oligodactylyHP:0040282
18 HP:0001180Hand oligodactylyHP:0040282
19 HP:0002984Hypoplasia of the radiusHP:0040281
20 HP:0002866Hypoplastic iliac wingHP:0040282
21 HP:0008839Hypoplastic pelvisHP:0040282
22 HP:0006443Patellar aplasiaHP:0040282
23 HP:0001162Postaxial hand polydactylyHP:0040282
24 HP:0002986Radial bowingHP:0040281
25 HP:0004322Short statureHP:0040282
26 HP:0001762Talipes equinovarusHP:0040282
27 HP:0001770Toe syndactylyHP:0040282
28 HP:0009465Ulnar deviation of fingerHP:0040282
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004625.3(WNT7A):c.325G>A (p.Ala109Thr)7476WNT7APathogenic104893832RCV000008527; NMedGen:C1856728,OMIM:228930,ORPHA:285431389627413896274NM_004625.3:c.325G>ANP_004616.2:p.Ala109ThrNC_000003.11:g.13896274C>TOMIM Allelic Variant:601570.0002C1856728 228930 Fuhrmann syndrome