MCID: CNG028
MIFTS: 20

Congenital Hypoplastic Anemia malady

Immune, Blood categories

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 fanconi syndrome and acute leukemia. An important gene associated with Congenital Hypoplastic Anemia is EPO (erythropoietin).

Aliases & Classifications for Congenital Hypoplastic Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 57SNOMED-CT, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

congenital hypoplastic anemia 8
congenital aplastic anemia 8 43
congenital hypoplastic anaemia 8
constitutional aplastic anemia 61


External Ids:

Disease Ontology8 DOID:1342
ICD9CM27 284.0
ICD1025 D61.0

Related Diseases for Congenital Hypoplastic Anemia

Sources:
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
1fanconi syndrome10.2
2acute leukemia10.2
3shwachman-diamond syndrome10.1
4aminoaciduria10.1
5histidinemia10.1
6congenital hypogammaglobulinemia10.1
7acute promyelocytic leukemia10.1

Graphical network of diseases related to Congenital Hypoplastic Anemia:



Diseases related to congenital hypoplastic anemia

Clinical Features for Congenital Hypoplastic Anemia

Drugs & Therapeutics for Congenital Hypoplastic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Hypoplastic Anemia

Drug clinical trials:

Search ClinicalTrials for Congenital Hypoplastic Anemia

Search NIH Clinical Center for Congenital Hypoplastic Anemia

Search CenterWatch for Congenital Hypoplastic Anemia

Genetic Tests for Congenital Hypoplastic Anemia

Anatomical Context for Congenital Hypoplastic Anemia

Animal Models for Congenital Hypoplastic Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Hypoplastic Anemia

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51PubMed
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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
Congenital hypoplastic (Diamond-Blackfan) anemia: a possible role of natural killer cells in erythropoietic suppression. (3201885)
1988
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
Lymphocyte dysfunction in congenital hypoplastic anemia. (6980901)
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
Myelofibrosis-polycythemia syndrome on congenital hypoplastic anemia: a case report. (6938095)
1980
23
Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. (621285)
1978
24
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. (747770)
1978
25
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. (276838)
1978
26
Normal erythropoietic helper T cells in congenital hypoplastic (Diamond-Blackfan) anemia. (306065)
1978
27
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome. (747771)
1978
28
Bone marrow transplantation in congenital hypoplastic anemia. (321049)
1977
29
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (786411)
1976
30
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). (180802)
1976
31
Congenital hypoplastic anemia. (773132)
1976
32
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. (131849)
1976
33
Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia. (803114)
1975
34
The significance of lymphocytosis in congenital hypoplastic anemia. (1057643)
1975
35
Congenital hypoplastic anemia associated with hypogammaglobulinemia. (4443864)
1974
36
The occurrence of congenital hypoplastic anemia in half brothers. (5042496)
1972
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
Congenital hypoplastic anemia. Report of a case recognized in infant at 3 days of age. (14036472)
1962
42
CONGENITAL hypoplastic anemia. (13452260)
1957
43
Congenital hypoplastic anemia. (13400593)
1957
44
Hypoplastic anemia with multiple congenital anomalies (Fanconi syndrome). (14360748)
1955
45
Congenital hypoplastic anemia. (13155070)
1954
46
DEFECT in tryptophan metabolism in congenital hypoplastic anemia. (13154742)
1954
47
Fanconi syndrome; multiple congenital anomalies with hypoplastic anemia. (14884730)
1952
48
Hypoplastic anemia with multiple congenital defects (Fanconi syndrome). (12993536)
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

Expression for genes affiliated with Congenital Hypoplastic Anemia

Sources:
1BioGPS, 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

Compounds for genes affiliated with Congenital Hypoplastic Anemia

GO Terms for genes affiliated with Congenital Hypoplastic Anemia

Products for genes affiliated with Congenital Hypoplastic Anemia

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Sources for Congenital Hypoplastic Anemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet