MCID: CNG028
MIFTS: 24

Congenital Hypoplastic Anemia malady

Rare diseases, Immune diseases, Blood diseases categories

Aliases & Classifications for Congenital Hypoplastic Anemia

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Congenital Hypoplastic Anemia, Aliases & Descriptions:

Name: Congenital Hypoplastic Anemia 9 60
Congenital Aplastic Anemia 9 41
Constitutional Aplastic Anemia 60
 
Anemia, Diamond-Blackfan 60
Fanconi Anemia 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:1342
ICD9CM27 284.0
ICD1025 D61.0

Summaries for Congenital Hypoplastic Anemia

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Wikipedia:63 Congenital hypoplastic anemia (or constitutional aplastic anemia) refers to a type of aplastic anemia... more...

MalaCards based summary: 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.

Related Diseases for Congenital Hypoplastic Anemia

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Diseases related to Congenital Hypoplastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1diamond-blackfan anemia10.6
2aplastic anemia10.4
3leukemia10.3
4hepatocellular carcinoma10.1
5cartilage-hair hypoplasia10.1
6fanconi anemia, complementation group a10.1
7diamond-blackfan anemia 110.1
8transient erythroblastopenia of childhood10.1
9hemochromatosis10.1
10dyserythropoietic anemia, congenital, type iii10.1
11myelofibrosis10.1
12histidinemia10.1
13fanconi syndrome10.1
14polycythemia10.1
15refractory 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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Drug clinical trials:

Search ClinicalTrials for Congenital Hypoplastic Anemia

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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MalaCards organs/tissues related to Congenital Hypoplastic Anemia:

31
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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Articles related to Congenital Hypoplastic Anemia:

(show all 47)
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
Congenital hypoplastic anemia (CHA) associated with congenital absence of the spleen. (7149172)
1982
16
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6211527)
1982
17
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
18
T-gamma lymphocytes in a case of congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6793456)
1981
19
Bone-marrow microenvironment defect in congenital hypoplastic anemia. (7374678)
1980
20
Myelofibrosis-polycythemia syndrome on congenital hypoplastic anemia: a case report. (6938095)
1980
21
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. (747770)
1978
22
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. (276838)
1978
23
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. (273451)
1978
24
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome. (747771)
1978
25
Bone marrow transplantation in congenital hypoplastic anemia. (321049)
1977
26
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (786411)
1976
27
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). (180802)
1976
28
Congenital hypoplastic anemia. (773132)
1976
29
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. (131849)
1976
30
Erythroid colony growth in congenital hypoplastic anemia. (1249203)
1976
31
Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia. (803114)
1975
32
Congenital hypoplastic anemia associated with hypogammaglobulinemia. (4443864)
1974
33
The occurrence of congenital hypoplastic anemia in half brothers. (5042496)
1972
34
Congenital hypoplastic anemia, report of two cases. (5514640)
1970
35
Treatment of congenital hypoplastic anemia with prednisone. (5447959)
1970
36
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (5414410)
1970
37
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. (5388366)
1969
38
Congenital hypoplastic anemia. Review of eight cases. (6037298)
1967
39
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). (5938027)
1966
40
Congenital hypoplastic anemia. Report of a case recognized in infant at 3 days of age. (14036472)
1962
41
Congenital hypoplastic anemia. (13608755)
1958
42
CONGENITAL hypoplastic anemia. (13452260)
1957
43
Congenital hypoplastic anemia. (13400593)
1957
44
Congenital hypoplastic anemia. (13155070)
1954
45
DEFECT in tryptophan metabolism in congenital hypoplastic anemia. (13154742)
1954
46
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome). (14952013)
1952
47
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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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
  • Proteins
  • Kits and Assays

Sources for Congenital Hypoplastic Anemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet