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:
expandSyndactyly (D013576)
..Starting node
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)

       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:10801
Name:Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Definition:
Alternative IDs:OMIM:609432
ParentIDs:MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C563721 |C05.660.585.800/C563721 |C05.660.906.819/C563721 |C16.131.621.585.800/C563721 |C16.131.621.906.819/C563721
Synonyms:MSSD |Syndactyly, Malik-Percin Type |Syndactyly, Type IX
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C563721
MeSH: C563721
OMIM: 609432;

Genes: BHLHA9;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:00060973-4 finger syndactyly
3 HP:0008362Aplasia/Hypoplasia of the hallux
4 HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
5 HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger
6 HP:0009601Aplasia/Hypoplasia of the thumb
7 HP:0004209Clinodactyly of the 5th finger
8 HP:0009177Proximal/middle symphalangism of 5th finger
9 HP:0000954Single transverse palmar crease
10 HP:0010064Symphalangism affecting the phalanges of the hallux
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001164405.1(BHLHA9):c.211A>G (p.Asn71Asp)727857BHLHA9Pathogenic672601337RCV000149486; NGene:619407,MedGen:C1836206,OMIM:609432,ORPHA:1578011711740681174068NM_001164405.1:c.211A>GNP_001157877.1:p.Asn71AspNC_000017.10:g.1174068A>GOMIM Allelic Variant:615416.0002C1836206 609432 Syndactyly type 9
NM_001164405.1(BHLHA9):c.218G>C (p.Arg73Pro)727857BHLHA9Pathogenic672601338RCV000149487; NGene:619407,MedGen:C1836206,OMIM:609432,ORPHA:1578011711740751174075NM_001164405.1:c.218G>CNP_001157877.1:p.Arg73ProNC_000017.10:g.1174075G>COMIM Allelic Variant:615416.0001C1836206 609432 Syndactyly type 9
NM_001164405.1(BHLHA9):c.224G>T (p.Arg75Leu)727857BHLHA9Pathogenic672601339RCV000149488; NGene:619407,MedGen:C1836206,OMIM:609432,ORPHA:1578011711740811174081NM_001164405.1:c.224G>TNP_001157877.1:p.Arg75LeuNC_000017.10:g.1174081G>TOMIM Allelic Variant:615416.0003C1836206 609432 Syndactyly type 9