MCID: CNG028
MIFTS: 25

Congenital Hypoplastic Anemia malady

Immune diseases, Blood diseases categories

Summaries for Congenital Hypoplastic Anemia

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MalaCards: Congenital Hypoplastic Anemia, also known as congenital aplastic anemia, is related to acute leukemia and shwachman-diamond syndrome. 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, 42NIH Rare Diseases, 60UMLS, 56SNOMED-CT, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

congenital hypoplastic anemia 8
congenital aplastic anemia 8 42
congenital hypoplastic anaemia 8
constitutional aplastic anemia 60


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:

idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia10.2
2shwachman-diamond syndrome10.1
3histidinemia10.1
4fanconi syndrome10.1
5congenital hypogammaglobulinemia10.1

Graphical network of diseases related to Congenital Hypoplastic Anemia:



Diseases related to congenital hypoplastic anemia

Clinical Features for Congenital Hypoplastic Anemia

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Drugs & Therapeutics for Congenital Hypoplastic Anemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Hypoplastic Anemia

Drug clinical trials:

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Search NIH Clinical Center for Congenital Hypoplastic Anemia

Search CenterWatch for Congenital Hypoplastic Anemia

Genetic Tests for Congenital Hypoplastic Anemia

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Anatomical Context for Congenital Hypoplastic Anemia

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32MalaCards
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MalaCards organs/tissues related to Congenital Hypoplastic Anemia:

32
Bone marrow, Bone, Monocytes, Spleen, T cells

Animal Models for Congenital Hypoplastic Anemia or affiliated genes

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Publications for Congenital Hypoplastic Anemia

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50PubMed
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Articles related to Congenital Hypoplastic Anemia:

(show top 50)    (show all 57)
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
Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. (2309764)
1990
7
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
8
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. (3127306)
1987
9
Th activation in congenital hypoplastic anemia. (3296341)
1987
10
Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. (3955239)
1986
11
Ultrastructural studies of spontaneous in vitro transformation of cultured marrow monocyte-macrophage cells from a patient with congenital hypoplastic anemia. (3971383)
1985
12
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). (6378273)
1984
13
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. (6596564)
1984
14
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. (6859458)
1983
15
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. (6646173)
1983
16
A condition resembling congenital hypoplastic anemia occurring in a mother and son. (7140130)
1982
17
Congenital hypoplastic anemia (CHA) associated with congenital absence of the spleen. (7149172)
1982
18
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6211527)
1982
19
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
20
T-gamma lymphocytes in a case of congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6793456)
1981
21
Bone-marrow microenvironment defect in congenital hypoplastic anemia. (7374678)
1980
22
Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. (621285)
1978
23
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. (747770)
1978
24
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. (276838)
1978
25
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. (273451)
1978
26
Normal erythropoietic helper T cells in congenital hypoplastic (Diamond-Blackfan) anemia. (306065)
1978
27
Bone marrow transplantation in congenital hypoplastic anemia. (321049)
1977
28
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (786411)
1976
29
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). (180802)
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
Congenital hypoplastic anemia, report of two cases. (5514640)
1970
36
Treatment of congenital hypoplastic anemia with prednisone. (5447959)
1970
37
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (5414410)
1970
38
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. (5388366)
1969
39
Congenital hypoplastic anemia. Review of eight cases. (6037298)
1967
40
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). (5938027)
1966
41
Congenital hypoplastic anemia. Report of a case recognized in infant at 3 days of age. (14036472)
1962
42
Congenital hypoplastic anemia. (13608755)
1958
43
CONGENITAL hypoplastic anemia. (13452260)
1957
44
Congenital hypoplastic anemia. (13400593)
1957
45
Hypoplastic anemia with multiple congenital anomalies (Fanconi syndrome). (14360748)
1955
46
Congenital hypoplastic anemia. (13155070)
1954
47
DEFECT in tryptophan metabolism in congenital hypoplastic anemia. (13154742)
1954
48
Fanconi syndrome; multiple congenital anomalies with hypoplastic anemia. (14884730)
1952
49
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome). (14952013)
1952
50
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi syndrome). (20278337)
1947

Genetic Variations for Congenital Hypoplastic Anemia

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Expression for genes affiliated with Congenital Hypoplastic Anemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Hypoplastic Anemia

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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
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Sources for Congenital Hypoplastic Anemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet