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Congenital dyserythropoietic anemia type type 1B(CDAN1B)

MedGen UID:: 816515
•Concept ID:: C3810185
•: Disease or Syndrome

Synonyms:	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDA, TYPE Ib; CDAN1B

Gene (location): Gene(s) directly associated with this condition or phenotype.	CDIN1 (15q14)

Monarch Initiative:	MONDO:0014285
OMIM®:	615631

Disease characteristics

Excerpted from the GeneReview: Congenital Dyserythropoietic Anemia Type I

Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals. [from GeneReviews]

Authors:
Hannah Tamary | Orly Dgany view full author information

Additional description

From OMIM
Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by Ahmed et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of CDA, see CDAN1A (224120). http://www.omim.org/entry/615631

Clinical features

From HPO

Syndactyly

MedGen UID:: 52619
•Concept ID:: C0039075
•: Congenital Abnormality

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Growth delay

MedGen UID:: 99124
•Concept ID:: C0456070
•: Pathologic Function

A deficiency or slowing down of growth pre- and postnatally.

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Hepatomegaly

MedGen UID:: 42428
•Concept ID:: C0019209
•: Finding

Abnormally increased size of the liver.

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Jaundice

MedGen UID:: 43987
•Concept ID:: C0022346
•: Sign or Symptom

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

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Anemia

MedGen UID:: 1526
•Concept ID:: C0002871
•: Disease or Syndrome

A reduction in erythrocytes volume or hemoglobin concentration.

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Erythroid hyperplasia

MedGen UID:: 4536
•Concept ID:: C0014800
•: Disease or Syndrome

Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.

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Reticulocytosis

MedGen UID:: 60089
•Concept ID:: C0206160
•: Finding

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.

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Anisocytosis

MedGen UID:: 66371
•Concept ID:: C0221278
•: Finding

Abnormally increased variability in the size of erythrocytes.

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Poikilocytosis

MedGen UID:: 67451
•Concept ID:: C0221281
•: Finding

The presence of abnormally shaped erythrocytes.

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Anemia of inadequate production

MedGen UID:: 95937
•Concept ID:: C0392708
•: Pathologic Function

A kind of anemia characterized by inadequate production of erythrocytes.

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Multinucleated erythroblast

MedGen UID:: 412762
•Concept ID:: C2749670
•: Finding

Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.

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Splenomegaly