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:
expandAnkylosis (D000844)
Parent Node:
expandEar Diseases (D004427)
Parent Node:
expandHyperopia (D006956)
Parent Node:
expandSyndactyly (D013576)
..Starting node
..expandSTAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)

       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:10639
Name:STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Definition:
Alternative IDs:
ParentIDs:MESH:D000844|MESH:D004427|MESH:D006956|MESH:D013576
TreeNumbers:C05.116.099.370.894.819/184460 |C05.550.069/184460 |C05.660.585.800/184460 |C05.660.906.819/184460 |C09.218/184460 |C11.744.479/184460 |C16.131.621.585.800/184460 |C16.131.621.906.819/184460
Synonyms:ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY |STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM |TEUNISSEN-CREMERS SYNDROME
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease
Reference: MedGen: 184460
MeSH: 184460
OMIM: 184460;

Genes: NOG;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0010055Broad halluxHP:0040281
3 HP:0011304Broad thumbHP:0040281
4 HP:0000405Conductive hearing impairmentHP:0040281
5 HP:0007943Congenital stapes ankylosisHP:0040281
6 HP:0002949Fused cervical vertebraeHP:0040284
7 HP:0000540HypermetropiaHP:0040281
8 HP:0000466Limited neck range of motionHP:0040284
9 HP:0003189Long noseHP:0040282
10 HP:0009765Low hanging columellaHP:0040282
11 HP:0009177Proximal/middle symphalangism of 5th finger
12 HP:0009882Short distal phalanx of fingerHP:0040282
13 HP:0000381Stapes ankylosisHP:0040281
14 HP:0001770Toe syndactylyHP:0040282
15 HP:0000430Underdeveloped nasal alaeHP:0040282
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005450.4(NOG):c.103C>T (p.Pro35Ser)9241NOGPathogenic28937580RCV000007093; RCV000007094; RCV000007095; NMedGen:C1861385,OMIM:185800,ORPHA:3250; MedGen:C1866656,OMIM:184460,ORPHA:140917; MedGen:C1969652,OMIM:611377,ORPHA:140908175467168754671687NM_005450.4:c.103C>TNP_005441.1:p.Pro35SerNC_000017.10:g.54671687C>G,NC_000017.10:g.54671687C>TOMIM Allelic Variant:602991.0012C1969652 611377 Brachydactyly type B2; C1861385 185800 Cushing's symphalangism; C1866656 184460 Stapes ankylosis with broad thumb and toes
NM_005450.4(NOG):c.328C>T (p.Gln110Ter)9241NOGPathogenic104894614RCV000007096; NMedGen:C1866656,OMIM:184460,ORPHA:140917175467191254671912NM_005450.4:c.328C>TNP_005441.1:p.Gln110TerNC_000017.10:g.54671912C>TOMIM Allelic Variant:602991.0013C1866656 184460 Stapes ankylosis with broad thumb and toes