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:
expandbeta-Thalassemia (D017086)
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandHemolysis (D006461)
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)

       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:10999
Name:Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Definition:
Alternative IDs:OMIM:314050
ParentIDs:MESH:D006461|MESH:D013921|MESH:D017086|MESH:D040181
TreeNumbers:C15.378.071.141.150.875.150/C564050 |C15.378.140.855/C564050 |C15.378.420.826.150/C564050 |C16.320.070.875.150/C564050 |C16.320.322/C564050 |C16.320.365.826.150/C564050 |C23.550.403/C564050
Synonyms:THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS |Thrombocytopenia with Beta-Thalassemia, X-Linked |XLTT
Slim Mappings:Blood disease|Genetic disease (inborn)|Pathology (process)
Reference: MedGen: C564050
MeSH: C564050
OMIM: 314050;

Genes: GATA1;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0000978Bruising susceptibility
3 HP:0000421Epistaxis
4 HP:0001878Hemolytic anemiaHP:0040282
5 HP:0001007HirsutismHP:0040283
6 HP:0000967Petechiae
7 HP:0003010Prolonged bleeding time
8 HP:0001923Reticulocytosis
9 HP:0001744Splenomegaly
10 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp)2623GATA1Pathogenic387907207RCV000024620; NMedGen:C1839161,OMIM:314050,ORPHA:231393X4865077748650777NM_002049.3:c.646C>TNP_002040.1:p.Arg216TrpNC_000023.10:g.48650777C>TOMIM Allelic Variant:305371.0010C1839161 314050 Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)2623GATA1Pathogenic104894809RCV000011173; NMedGen:C1839161,OMIM:314050,ORPHA:231393X4865077848650778NM_002049.3:c.647G>ANP_002040.1:p.Arg216GlnNC_000023.10:g.48650778G>AOMIM Allelic Variant:305371.0006C1839161 314050 Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis