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Disease Browser
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandTHROMBOCYTOPENIA 2 (OMIM:188000)

       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:10991
Name:THROMBOCYTOPENIA 2
Definition:
Alternative IDs:
ParentIDs:MESH:D013921
TreeNumbers:C15.378.140.855/188000
Synonyms:THC2 |THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
Slim Mappings:Blood disease
Reference: MedGen: 188000
MeSH: 188000
OMIM: 188000;

Genes: ANKRD26; MASTL;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000978Bruising susceptibility
3 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_014915.2(ANKRD26):c.-134G>A22852ANKRD26Pathogenic863223318RCV000023838; NMedGen:C1861185,OMIM:188000102738938927389389NM_014915.2:c.-134G>ANC_000010.10:g.27389389C>TOMIM Allelic Variant:610855.0001C1861185 188000 Thrombocytopenia 2
NM_001172303.2(MASTL):c.501G>C (p.Glu167Asp)84930MASTLPathogenic28941470RCV000002573; NMedGen:C1861185,OMIM:188000102745005927450059NM_001172303.2:c.501G>CNP_001165774.1:p.Glu167AspNC_000010.10:g.27450059G>COMIM Allelic Variant:608221.0001C1861185 188000 Thrombocytopenia 2