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encyclopedia of Rare Disease Annotation for Precision Medicine



   congenital dyserythropoietic anemia type ii
  

Disease ID 996
Disease congenital dyserythropoietic anemia type ii
Definition
Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS)[1] is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test.[2] - Wikipedia
Reference: https://en.wikipedia.org/wiki/congenital dyserythropoietic anemia type ii
Synonym
anemia, congenital dyserythropoietic, type ii
anemia, dyserythropoietic congenital, type ii
anemia, dyserythropoietic, congenital type 2
anemia, dyserythropoietic, congenital, type ii
cda ii
cdan2
congenital dyserythropoietic anaemia type ii
congenital dyserythropoietic anaemia type ii (disorder)
congenital dyserythropoietic anaemia, type ii
congenital dyserythropoietic anemia, type ii
congenital dyserythropoietic anemia, type ii (disorder)
dyserythropoietic anemia, congenital type 2
dyserythropoietic anemia, congenital, type ii
dyserythropoietic anemia, hempas type
hempas
hempas - hereditary erythroblast multinuclearity with positive acid serum test
hempas anemia
hempas anemias
hereditary erythroblast multinuclearity with positive acid serum test
hereditary erythroblast multinuclearity with positive acid serum test (disorder)
hereditary erythroblast multinuclearity with positive acidified serum
hereditary erythroblastic multinuclearity with positive acidified-serum test
Orphanet
OMIM
UMLS
C1306589
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
10483  |  SEC23B  |  CLINVAR;ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
SEC23B  |  20p11.23
Disease ID 996
Disease congenital dyserythropoietic anemia type ii
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:7)
HP:0001744  |  Splenomegaly
HP:0000952  |  Yellow skin
HP:0003655  |  Deficient N-acetylglucosaminyltransferase II
HP:0001923  |  Reticulocytosis
HP:0010972  |  Anemia of inadequate production
HP:0003352  |  Endopolyploidy on chromosome studies of bone marrow
HP:0001081  |  Gallstones
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0012432  |  Chronic fatigue  |  1
HP:0012378  |  Fatigue  |  1
Disease ID 996
Disease congenital dyserythropoietic anemia type ii
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C2613439  |  extramedullary hematopoiesis
C0080024  |  piebaldism
C0023443  |  hairy cell leukemia
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:8)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1219182211956160510483SEC23Bumls:C1306589UNIPROTMutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.0.364343072009SEC23B2018515695GA
rs121918221NA10483SEC23Bumls:C1306589CLINVARNA0.36434307NASEC23B2018515695GA
rs121918222NA10483SEC23Bumls:C1306589CLINVARNA0.36434307NASEC23B2018510875CT
rs121918223NA10483SEC23Bumls:C1306589CLINVARNA0.36434307NASEC23B2018543095CT
rs121918224NA10483SEC23Bumls:C1306589CLINVARNA0.36434307NASEC23B2018525888CT
rs121918225NA10483SEC23Bumls:C1306589CLINVARNA0.36434307NASEC23B2018526508CT
rs121918226NA10483SEC23Bumls:C1306589CLINVARNA0.36434307NASEC23B2018524980CT
rs2012705681962141810483SEC23Bumls:C1306589UNIPROTCongenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.0.364343072009SEC23B2018554343CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0010972Anemia of inadequate productionMP:0010178increased number of Howell-Jolly bodiesabnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in
Mapped by homologous gene(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0010972Anemia of inadequate productionMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001923ReticulocytosisMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0003655Reduced activity of N-acetylglucosaminyltransferase IIMP:0013584pancreas degenerationa retrogressive impairment of function or destruction of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
HP:0003352Endopolyploidy on chromosome studies of bone marrowMP:0013584pancreas degenerationa retrogressive impairment of function or destruction of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
HP:0001081CholelithiasisMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001744SplenomegalyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000952JaundiceMP:0020215impaired blood coagulationimpaired ability of the blood to clot
Disease ID 996
Disease congenital dyserythropoietic anemia type ii
Case(Waiting for update.)