PedAM

Pediatric Disease Annotations & Medicines


	thrombocytopenia 2

Disease ID	1445
Disease	thrombocytopenia 2
Definition	An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.
Synonym	helmerhorst heaton crossen syndrome thrombocytopenia 2 (disorder) thrombocytopenia chromosome breakage thrombocytopenia, autosomal dominant thrombocytopenia, autosomal dominant, 2
OMIM	OMIM:188000
UMLS	C1861185
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0002871 \| anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) MASTL \| 84930 \| CLINVAR;CTD_human;UNIPROT ANKRD26 \| 22852 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1445
Disease	thrombocytopenia 2
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0000978 \| Bruisability HP:0001873 \| Low platelet count
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001903 \| Anemia \| 1

Disease ID	1445
Disease	thrombocytopenia 2
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs28941470	NA	84930	MASTL	umls:C1861185	CLINVAR	NA	0.360271442	NA	MASTL	10	27161130	G	C
rs28941470	12890928	84930	MASTL	umls:C1861185	UNIPROT	FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.	0.360271442	2003	MASTL	10	27161130	G	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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