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:
expandSynostosis (D013580)
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)

       Child Nodes:



 Sister Nodes: 
..expandAbsent radii and thrombocytopenia (C536940)
..expandAcquired pure megakaryocytic aplasia (C538176)
..expandCongenital amegakaryocytic thrombocytopenia (C535982)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandDK Phocomelia Syndrome (C565618)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandEvan's 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)
..expandTetraphocomelia-Thrombocytopenia Syndrome (C564771)
..expandThrombasthenia-Thrombocytopenia, Hereditary (C566060)
..expandThrombocytopenia 1 (C564052)
..expandTHROMBOCYTOPENIA 2 (OMIM:188000)
..expandThrombocytopenia 3 (C567487)
..expandThrombocytopenia 4 (C567438)
..expandThrombocytopenia absent ulnar syndrome (C536944)
..expandThrombocytopenia chromosome breakage (C536519)
..expandThrombocytopenia Robin sequence (C536898)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..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, CTD
Term ID:9586
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 |RUSAT |THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
Slim Mappings:Blood disease|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C565328
MeSH: C565328
OMIM: 605432;

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
13 HP:0003182Shallow acetabular fossae
14 HP:0001159Syndactyly
15 HP:0003031Ulnar bowing
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005523.5(HOXA11):c.872delA (p.Asn291Thrfs)3207HOXA11Pathogenic864321666RCV000016026; NMedGen:C1854273,OMIM:605432,ORPHA:7128972722248527222485NM_005523.5:c.872delANP_005514.1:p.Asn291ThrfsNC_000007.13:g.27222485delTOMIM Allelic Variant:142958.0001C1854273 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia