MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Synostosis (D013580)
Parent Node:
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Thrombocytopenia (D013921)
..Starting node
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Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)

       Child Nodes:



 Sister Nodes: 
..expandAbsent radii and thrombocytopenia (C536940)
..expandAcquired pure megakaryocytic aplasia (C538176)
..expandBLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
..expandCongenital amegakaryocytic thrombocytopenia (C535982)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandDK Phocomelia Syndrome (C565618)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandEvans Syndrome (C536380)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGardner Morrisson Abbot syndrome (C535643)
..expandGiant Platelet Syndrome with Thrombocytopenia (C564237)
..expandGlycoprotein IA Deficiency (C566000)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandKasabach-Merritt Syndrome (D059885) Child1
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMacrothrombocytopenia, Autosomal Dominant, Tubb1-Related (C567747)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMYH9-Related Disorders (C535507)
..expandOculootoradial syndrome (C535544)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandTAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
..expandTetraphocomelia-Thrombocytopenia Syndrome (C564771)
..expandThrombasthenia-Thrombocytopenia, Hereditary (C566060)
..expandThrombocytopenia 1 (C564052)
..expandTHROMBOCYTOPENIA 2 (OMIM:188000)
..expandThrombocytopenia 3 (C567487)
..expandThrombocytopenia 4 (C567438)
..expandTHROMBOCYTOPENIA 5 (OMIM:616216)
..expandTHROMBOCYTOPENIA 6 (OMIM:616937)
..expandThrombocytopenia absent ulnar syndrome (C536944)
..expandThrombocytopenia chromosome breakage (C536519)
..expandThrombocytopenia Robin sequence (C536898)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..expandTHROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
..expandThrombocytopenia, cyclic (C536899)
..expandThrombocytopenia, Neonatal Alloimmune (D054098)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandTHROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
..expandThrombotic Microangiopathies (D057049) Child9
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10540
Name:Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Definition:
Alternative IDs:OMIM:605432
ParentIDs:MESH:D013580|MESH:D013921
TreeNumbers:C05.116.099.370.894/C565328 |C05.660.906/C565328 |C15.378.140.855/C565328 |C16.131.621.906/C565328
Synonyms:CTRUS |RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 |RUSAT |RUSAT1 |THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
Slim Mappings:Blood disease|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C565328
MeSH: C565328
OMIM: 605432;
MSeqDR LSDB:  
Genes: HOXA11;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0004859Amegakaryocytic thrombocytopenia
3 HP:0001915Aplastic anemia
4 HP:0004209Clinodactyly of the 5th finger
5 HP:0001905Congenital thrombocytopenia
6 HP:0002827Hip dislocation
7 HP:0006394Limited pronation/supination of forearm
8 HP:0005548Megakaryocytopenia
9 HP:0000967Petechiae
10 HP:0005037Proximal radio-ulnar synostosis
11 HP:0002986Radial bowing
12 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
13 HP:0003182Shallow acetabular fossae
14 HP:0001159Syndactyly
15 HP:0003031Ulnar bowing
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005523.5(HOXA11):c.872del (p.Asn291fs)3207HOXA11Pathogenicrs864321666RCV000016026; NMONDO:MONDO:0024558,MedGen:C4551975,OMIM:605432, Orphanet:7128972722248527222485GTG7:g.27222485_27222485delClinGen:CA341348,OMIM:142958.0001C1854273 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia;
MSeqDR Portal