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Disease Browser
Parent Node:
expandThrombasthenia (D013915)
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandThrombasthenia-Thrombocytopenia, Hereditary (C566060)

       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:10985
Name:Thrombasthenia-Thrombocytopenia, Hereditary
Definition:
Alternative IDs:
ParentIDs:MESH:D013915|MESH:D013921
TreeNumbers:C15.378.100.100.820/C566060 |C15.378.140.810/C566060 |C15.378.140.855/C566060 |C15.378.463.810/C566060 |C16.320.099.820/C566060
Synonyms:
Slim Mappings:Blood disease|Genetic disease (inborn)
Reference: MedGen: C566060
MeSH: C566060
OMIM: 187900;

Genes: GFI1B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003593Infantile onset
4 HP:0012526Absence of alpha granules
5 HP:0000978Bruising susceptibility
6 HP:0000421Epistaxis
7 HP:0002239Gastrointestinal hemorrhage
8 HP:0011974Myelofibrosis
9 HP:0003010Prolonged bleeding time
10 HP:0003337Reduced prothrombin consumption
11 HP:0001873Thrombocytopenia
12 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004188.6(GFI1B):c.859C>T (p.Gln287Ter)8328GFI1BPathogenic587777211RCV000088664; NMedGen:C1861194,OMIM:1879009135866303135866303NM_004188.6:c.859C>TNP_004179.3:p.Gln287TerOMIM Allelic Variant:604383.0001C1861194 187900 Platelet-type bleeding disorder 17
NM_004188.6(GFI1B):c.880dupC (p.His294Profs)8328GFI1BPathogenic397989794RCV000074460; RCV000088665; NMedGen:C1861194,OMIM:187900; MedGen:CN2218099135866324135866324NM_004188.6:c.880dupCNP_004179.3:p.His294ProfsOMIM Allelic Variant:604383.0002CN221809 not provided; C1861194 187900 Platelet-type bleeding disorder 17