MCID: CNG619
MIFTS: 17

Congenital Aplastic Anemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Congenital Aplastic Anemia

MalaCards integrated aliases for Congenital Aplastic Anemia:

Name: Congenital Aplastic Anemia 52

Classifications:



Summaries for Congenital Aplastic Anemia

MalaCards based summary : Congenital Aplastic Anemia is related to aplastic anemia and pulmonary fibrosis and/or bone marrow failure, telomere-related, 2. An important gene associated with Congenital Aplastic Anemia is SBDS (SBDS Ribosome Maturation Factor). The drugs Deferiprone and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and thymus.

Related Diseases for Congenital Aplastic Anemia

Diseases in the Aplastic Anemia family:

Congenital Aplastic Anemia Rare Acquired Aplastic Anemia

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 10.5
2 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
3 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
4 deficiency anemia 10.4
5 pancytopenia 10.1
6 anemia, congenital dyserythropoietic, type ia 9.9
7 fanconi anemia, complementation group a 9.9
8 shwachman-diamond syndrome 1 9.9
9 visceral heterotaxy 9.9
10 autosomal recessive disease 9.9
11 cow milk allergy 9.9
12 siderosis 9.9
13 microcephaly 9.9
14 congenital dyserythropoietic anemia 9.9
15 milk allergy 9.9
16 erythema infectiosum 9.9
17 hypoglycemia 9.9
18 refractory anemia 9.9

Graphical network of the top 20 diseases related to Congenital Aplastic Anemia:



Diseases related to Congenital Aplastic Anemia

Symptoms & Phenotypes for Congenital Aplastic Anemia

Drugs & Therapeutics for Congenital Aplastic Anemia

Drugs for Congenital Aplastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 2 30652-11-0 2972
2
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
3
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4 Chelating Agents Phase 2
5 Iron Chelating Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
2 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Unknown status NCT03273998

Search NIH Clinical Center for Congenital Aplastic Anemia

Genetic Tests for Congenital Aplastic Anemia

Anatomical Context for Congenital Aplastic Anemia

MalaCards organs/tissues related to Congenital Aplastic Anemia:

40
Bone Marrow, Bone, Thymus, Skin, Myeloid

Publications for Congenital Aplastic Anemia

Articles related to Congenital Aplastic Anemia:

(show all 30)
# Title Authors PMID Year
1
Proteomic profiling and bioinformatics analysis identify key regulators during the process from fanconi anemia to acute myeloid leukemia. 61
32355551 2020
2
Effect of Tianshengyuan-1 (TSY-1) on telomerase activity and hematopoietic recovery - in vitro, ex vivo, and in vivo studies. 61
24753753 2014
3
Population pharmacokinetics of ciclosporin in Chinese children with aplastic anemia: effects of weight, renal function and stanozolol administration. 61
23624757 2013
4
Bone marrow failure and the new telomere diseases: practice and research. 61
22507770 2012
5
Telomere dysfunction and cell cycle checkpoints in hematopoietic stem cell aging. 61
21671044 2011
6
[Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia]. 61
18026880 2007
7
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 61
15814878 2005
8
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. 61
15342903 2004
9
Chromosomal transformation in donor cells following allogeneic bone marrow transplantation. 61
15146169 2004
10
[Congenital aplastic anemia caused by parvovirus B19 infection]. 61
11347208 2001
11
Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia. 61
10936984 2000
12
5-year survival after bone marrow transplantation for aplastic anemia. 61
10537929 1998
13
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience. 61
9212176 1997
14
[Allogenic bone marrow transplantation for Fanconi's anemia with leukemic transformation from an HLA identical father]. 61
7643454 1995
15
Severe idiopathic congenital aplastic anemia: role of hematopoietic growth factors. 61
8275043 1993
16
Dyskeratosis congenita: unusual presenting features within a kindred. 61
8318369 1993
17
Long-term bone marrow failure accompanied by skin pigmentation. 61
1777602 1991
18
[Correction of fatal genetic diseases using bone marrow transplantation. 2]. 61
2056655 1991
19
[Fanconi's anemia with squamous cell carcinoma--a case report and a review of literature]. 61
2691723 1989
20
[Familial leukemia (author's transl)]. 61
667377 1978
21
[Congenital aplastic anemia-Fanconi]. 61
615600 1977
22
[Congenital aplastic anemia, type I]. 61
1164147 1975
23
[Congenital aplastic anemia (constitutional, hereditary) Fanconi type]. 61
4465937 1974
24
[Congenital aplastic anemia of the Joseph-Diamond-Blakfan type. Case report]. 61
4336207 1972
25
[Fanconi's congenital aplastic anemia in a 7-year-old child]. 61
4658339 1972
26
[Progressive transfusion siderosis with pluriglandular endocrinopathy in congenital aplastic anemia (Blackfan-Diamond syndrome)]. 61
6028745 1967
27
An autopsy case of congenital aplastic anemia associated with intensive hypoplasia of thymus gland. 61
5630729 1967
28
[Case of congenital aplastic anemia (Fanconi's anemia) associated with various congenital abnormalities]. 61
6070390 1967
29
[POSSIBLE FANCONI'S CONGENITAL APLASTIC ANEMIA IN PREMATURE INFANT]. 61
14293183 1965
30
[FANCONI'S CONGENITAL APLASTIC ANEMIA IN AN 11-YEAR-OLD GIRL]. 61
14249612 1964

Variations for Congenital Aplastic Anemia

Expression for Congenital Aplastic Anemia

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

Pathways for Congenital Aplastic Anemia

GO Terms for Congenital Aplastic Anemia

Sources for Congenital Aplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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