MCID: CNG028
MIFTS: 27

Congenital Hypoplastic Anemia malady

Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Congenital Hypoplastic Anemia

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33MalaCards
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MalaCards: Congenital Hypoplastic Anemia, also known as congenital aplastic anemia, is related to diamond-blackfan anemia and aplastic anemia. An important gene associated with Congenital Hypoplastic Anemia is EPO (erythropoietin). Affiliated tissues include bone marrow, bone and monocytes.

Aliases & Classifications for Congenital Hypoplastic Anemia

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8Disease Ontology, 43NIH Rare Diseases, 62UMLS, 58SNOMED-CT, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Immune diseases, Blood diseases


Aliases & Descriptions:

congenital hypoplastic anemia 8
congenital aplastic anemia 8 43
congenital hypoplastic anaemia 8
constitutional aplastic anemia 62


External Ids:

Disease Ontology8 DOID:1342
ICD9CM27 284.0
ICD1025 D61.0

Related Diseases for Congenital Hypoplastic Anemia

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17GeneCards, 18GeneDecks
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Diseases related to Congenital Hypoplastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1diamond-blackfan anemia10.5
2aplastic anemia10.4
3leukemia10.3
4shwachman-diamond syndrome10.2
5siderosis10.1
6histidinemia10.1
7fanconi syndrome10.1
8hemochromatosis10.1
9fanconi's anemia10.1
10hepatocellular carcinoma10.1
11myelofibrosis10.1
12polycythemia10.1
13acute promyelocytic leukemia10.1
14transient erythroblastopenia of childhood10.1
15diamond-blackfan anemia 110.1
16refractory anemia10.1

Graphical network of diseases related to Congenital Hypoplastic Anemia:



Diseases related to congenital hypoplastic anemia

Symptoms for Congenital Hypoplastic Anemia

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Drugs & Therapeutics for Congenital Hypoplastic Anemia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Congenital Hypoplastic Anemia

Genetic Tests for Congenital Hypoplastic Anemia

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Anatomical Context for Congenital Hypoplastic Anemia

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33MalaCards
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MalaCards organs/tissues related to Congenital Hypoplastic Anemia:

33
Bone marrow, Bone, Monocytes, Spleen

Animal Models for Congenital Hypoplastic Anemia or affiliated genes

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Publications for Congenital Hypoplastic Anemia

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52PubMed
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Articles related to Congenital Hypoplastic Anemia:

(show all 49)
idTitleAuthorsYear
1
Modern review of congenital hypoplastic anemia. (11563776)
2001
2
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia. (7626383)
1995
3
Congenital hypoplastic anemia: another example of autosomal dominant transmission. (8160759)
1994
4
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. (1956715)
1991
5
Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. (2040190)
1991
6
Impaired ability of T4+ lymphocytes in the active stage of congenital hypoplastic anemia to promote in vitro growth of blood erythroid burst-forming units (BFU-E). (2904723)
1988
7
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. (3127306)
1987
8
Th activation in congenital hypoplastic anemia. (3296341)
1987
9
Ultrastructural studies of spontaneous in vitro transformation of cultured marrow monocyte-macrophage cells from a patient with congenital hypoplastic anemia. (3971383)
1985
10
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). (6378273)
1984
11
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. (6596564)
1984
12
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. (6859458)
1983
13
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. (6646173)
1983
14
A condition resembling congenital hypoplastic anemia occurring in a mother and son. (7140130)
1982
15
Lymphocyte dysfunction in congenital hypoplastic anemia. (6980901)
1982
16
Congenital hypoplastic anemia (CHA) associated with congenital absence of the spleen. (7149172)
1982
17
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6211527)
1982
18
Effect of subcutaneous deferoxamine and oral vitamin C on iron excretion in congenital hypoplastic anemia and refractory anemia associated with the 5q-syndrome. (7114394)
1982
19
T-gamma lymphocytes in a case of congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6793456)
1981
20
Bone-marrow microenvironment defect in congenital hypoplastic anemia. (7374678)
1980
21
Myelofibrosis-polycythemia syndrome on congenital hypoplastic anemia: a case report. (6938095)
1980
22
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. (747770)
1978
23
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. (276838)
1978
24
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. (273451)
1978
25
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome. (747771)
1978
26
Bone marrow transplantation in congenital hypoplastic anemia. (321049)
1977
27
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (786411)
1976
28
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). (180802)
1976
29
Congenital hypoplastic anemia. (773132)
1976
30
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. (131849)
1976
31
Erythroid colony growth in congenital hypoplastic anemia. (1249203)
1976
32
Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia. (803114)
1975
33
The significance of lymphocytosis in congenital hypoplastic anemia. (1057643)
1975
34
Congenital hypoplastic anemia associated with hypogammaglobulinemia. (4443864)
1974
35
The occurrence of congenital hypoplastic anemia in half brothers. (5042496)
1972
36
Congenital hypoplastic anemia, report of two cases. (5514640)
1970
37
Treatment of congenital hypoplastic anemia with prednisone. (5447959)
1970
38
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (5414410)
1970
39
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. (5388366)
1969
40
Congenital hypoplastic anemia. Review of eight cases. (6037298)
1967
41
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). (5938027)
1966
42
Congenital hypoplastic anemia. Report of a case recognized in infant at 3 days of age. (14036472)
1962
43
Congenital hypoplastic anemia. (13608755)
1958
44
CONGENITAL hypoplastic anemia. (13452260)
1957
45
Congenital hypoplastic anemia. (13400593)
1957
46
Congenital hypoplastic anemia. (13155070)
1954
47
DEFECT in tryptophan metabolism in congenital hypoplastic anemia. (13154742)
1954
48
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome). (14952013)
1952
49
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi syndrome). (20278337)
1947

Variations for Congenital Hypoplastic Anemia

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Expression for genes affiliated with Congenital Hypoplastic Anemia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Hypoplastic Anemia

Search GEO for disease gene expression data for Congenital Hypoplastic Anemia.

Pathways for genes affiliated with Congenital Hypoplastic Anemia

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Compounds for genes affiliated with Congenital Hypoplastic Anemia

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GO Terms for genes affiliated with Congenital Hypoplastic Anemia

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Products for genes affiliated with Congenital Hypoplastic Anemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Hypoplastic Anemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet