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Parent Node:
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Anemia, Hemolytic, Congenital (D000745)
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Anemia, Dyserythropoietic, Congenital (D000742)

       Child Nodes:
........expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
........expandErythroreticulosis, Hereditary Benign (C566285)
........expandExocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195)
........expandMajeed syndrome (C537839)
........expandTHROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)



 Sister Nodes: 
..expandAnemia, Dyserythropoietic, Congenital (D000742) Child5
..expandAnemia, Hemolytic, Congenital Nonspherocytic (D000746) Child5
..expandAnemia, hereditary spherocytic hemolytic (C536356)
..expandAnemia, Sickle Cell (D000755) Child3
..expandDehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..expandElliptocytosis, Hereditary (D004612) Child11
..expandGlucosephosphate Dehydrogenase Deficiency (D005955) Child3
..expandHeinz Body Anemias (C563030)
..expandHemoglobin C Disease (D006445) Child1
..expandHemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..expandRed cell phospholipid defect with hemolysis (C535298)
..expandRh-Null Disease, Amorph Type (C566210)
..expandSpherocytosis, Hereditary (D013103) Child5
..expandStomatocytosis I (C566111)
..expandStomatocytosis II (C566110)
..expandThalassemia (D013789) Child16
..expandTransient erythroblastopenia of childhood (C536980)
..expandUridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
..expandXerocytosis, hereditary (C536764)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:626
Name:Anemia, Dyserythropoietic, Congenital
Definition:A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
Alternative IDs:OMIM:105600|OMIM:224100|OMIM:224120|OMIM:613673
ParentIDs:MESH:D000745
TreeNumbers:C15.378.071.141.150.095 |C16.320.070.095
Synonyms:Anemia, Congenital Dyserythropoietic |ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I |ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia |Anemia, Congenital Dyserythropoietic, Type II |ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III |ANEMIA, CONGENITAL DYSERYTHROPOIE
Slim Mappings:Blood disease|Genetic disease (inborn)
Reference: MedGen: D000742
MeSH: D000742
OMIM: 105600;

Genes: CDAN1; CDAN3; KLF1; SEC23B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0004810Congenital hypoplastic anemia
3 HP:0012543Hemosiderinuria
4 HP:0000952Jaundice
5 HP:0001972Macrocytic anemia
Disease Causing ClinVar Variants