User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Congenital Dyserythropoietic Anemia, Type III
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Congenital dyserythropoietic anemia, type III, also called CDA type III, is a very rare inherited blood disease. In this disease, the bone marrow tries to make ...

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Congenital Dyserythropoietic Anemia Type I
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Congenital dyserythropoietic anemia, type I, usually called CDA type I, is a rare inherited blood disease. In this disease, the bone marrow tries to make red ...

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Congenital Dyserythropoietic Anemia Due to KLF1 Mutation
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Congenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as ...

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Congenital Dyserythropoietic Anemia Due to KLF1 Mutation
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Congenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as ...

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Congenital Dyserythropoietic Anemia Type 4
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Congenital dyserythropoietic anemia type 4, often called CDA type IV, is a very rare inherited red blood cell disorder linked to KLF1 dysfunction. In this ...

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Congenital Dyserythropoietic Anemia
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Congenital dyserythropoietic anemia, or CDA, is a rare inherited blood disease. In this disease, the bone marrow makes red blood cells in an abnormal way. Many ...

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HEMPAS – Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test
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HEMPAS - Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test is a rare inherited blood disease. Its full old name is hereditary ...

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Congenital Dyserythropoietic Anemia Type 2
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Congenital dyserythropoietic anemia type 2, also called CDA type II, is a rare inherited blood disease. In this disease, the body makes red blood cells in the ...

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Congenital Dyshaematopoietic Anemia
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Congenital dyshaematopoietic anemia is more commonly called congenital dyserythropoietic anemia, or CDA. It is a rare inherited blood disorder. In this ...

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Congenital Dyserythropoietic Anemia
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Congenital dyserythropoietic anemia, often called CDA, is a rare inherited blood disorder. In this disease, the bone marrow makes red blood cells in an ...

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Component of Oligomeric Golgi Complex 2–Congenital Disorder of Glycosylation
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Component of oligomeric Golgi complex 2–congenital disorder of glycosylation is usually called COG2-CDG. It is a very rare inherited metabolic disease. In this ...

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Congenital Disorder of Glycosylation, Type IIq
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Congenital disorder of glycosylation, type IIq, is a very rare inherited metabolic disease. It is now also commonly called COG2-CDG because it is caused by ...

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DPM1-CDG Dolichyl-Phosphate Mannosyltransferase 1 Catalytic Subunit Congenital Disorder of Glycosylation
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DPM1-CDG means dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation. It is a very rare inherited metabolic disease. ...

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Dolichol-Phosphate-Mannose Synthase 1 Deficiency
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Dolichol-phosphate-mannose synthase 1 deficiency is a very rare inherited disease. Doctors also call it DPM1-CDG. It belongs to a group called congenital ...

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Dol-P-Mannosyltransferase Deficiency
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Dol-P-mannosyltransferase deficiency is a very rare inherited congenital disorder of glycosylation (CDG). It happens when the body cannot correctly make or use ...

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Congenital Disorder of Glycosylation Caused by Mutation in DPM1
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Congenital disorder of glycosylation caused by mutation in DPM1 is a very rare inherited metabolic disease. It is usually called DPM1-CDG. In this condition, ...

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Carbohydrate-Deficient Glycoprotein Syndrome Type IE
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Carbohydrate-deficient glycoprotein syndrome type Ie is an old name for DPM1-congenital disorder of glycosylation, often written as DPM1-CDG. It is a very rare ...

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Congenital Disorder of Glycosylation Type 1e
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Congenital disorder of glycosylation type 1e, also called DPM1-CDG or CDG-Ie, is a very rare inherited metabolic disease. It happens when the DPM1 gene does ...

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Carbohydrate Deficiency Glycoprotein Syndrome
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Carbohydrate deficiency glycoprotein syndrome is the older name for part of a larger group now called congenital disorders of glycosylation, or CDG. In simple ...

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Congenital Disorder of Glycosylation
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Congenital disorder of glycosylation, usually called CDG, is a large group of rare inherited metabolic diseases. In these diseases, the body cannot correctly ...

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