Dyserythropoietic Anemia, Congenital, Type Ia malady
Categories: Genetic diseases, Rare diseases, Blood diseases, Metabolic diseases
Aliases & Descriptions for Dyserythropoietic Anemia, Congenital, Type Ia:
Orphanet epidemiological data:51
congenital dyserythropoietic anemia type i:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult
dyserythropoietic anemia, congenital, type ia:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Blood diseases
Rare haematological diseases
OMIM:49 CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis,... (224120) more...
MalaCards based summary: Dyserythropoietic Anemia, Congenital, Type Ia, also known as congenital dyserythropoietic anemia type i, is related to dyserythropoietic anemia, congenital, type ib and renal cell carcinoma, and has symptoms including syndactyly, erythroid hyperplasia and anisocytosis. An important gene associated with Dyserythropoietic Anemia, Congenital, Type Ia is CDAN1 (Codanin 1). Affiliated tissues include bone, heart and bone marrow.
NIH Rare Diseases:45 Congenital dyserythropoietic anemia (cda) type 1 is an inherited blood disorder characterized by moderate to severe anemia. it is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). this condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. in particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). rarely, people with cda type i are born with skeletal abnormalities, most often involving the fingers and/or toes. cda type i usually results from mutations in the cdan1 and c150rf41 genes. it is inherited in an autosomal recessive pattern. treatment involves medication like interferon and sometimes bone marrow transplant and removal of the spleen. last updated: 12/10/2015
UniProtKB/Swiss-Prot:67 Anemia, congenital dyserythropoietic, 1A: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.
GeneReviews summary for NBK5313
HPO human phenotypes related to Dyserythropoietic Anemia, Congenital, Type Ia:(show all 12)
Drugs for Dyserythropoietic Anemia, Congenital, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Dyserythropoietic Anemia, Congenital, Type Ia
MalaCards organs/tissues related to Dyserythropoietic Anemia, Congenital, Type Ia:33
Bone, Heart, Bone marrow, Eye, Spleen, Skin, Liver
UniProtKB/Swiss-Prot genetic disease variations for Dyserythropoietic Anemia, Congenital, Type Ia:67
Clinvar genetic disease variations for Dyserythropoietic Anemia, Congenital, Type Ia:5
Search GEO for disease gene expression data for Dyserythropoietic Anemia, Congenital, Type Ia.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet