MCID: CNG028
MIFTS: 46

Congenital Hypoplastic Anemia

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Congenital Hypoplastic Anemia

MalaCards integrated aliases for Congenital Hypoplastic Anemia:

Name: Congenital Hypoplastic Anemia 12 15 72
Constitutional Aplastic Anaemia 12 33
Anemia, Hypoplastic, Congenital 75 44
Congenital Aplastic Anemia 12 53
Constitutional Aplastic Anemia 72
Anemia Hypoplastic Congenital 55
Anemia, Diamond-Blackfan 72
Fanconi Anemia 72

Classifications:



External Ids:

Disease Ontology 12 DOID:1342
ICD9CM 35 284.0
MeSH 44 D029502
SNOMED-CT 68 28975000 88854002
ICD10 33 D61.0 D61.01
UMLS 72 C0015625 C0702159 C0949116 more

Summaries for Congenital Hypoplastic Anemia

MalaCards based summary : Congenital Hypoplastic Anemia, also known as constitutional aplastic anaemia, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia. An important gene associated with Congenital Hypoplastic Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are Decreased cell number and Decreased cell number

Wikipedia : 75 Congenital hypoplastic anemia is a type of aplastic anemia which is primarily due to a congenital... more...

Related Diseases for Congenital Hypoplastic Anemia

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 32.9 RPS19 RPL5
2 diamond-blackfan anemia 31.9 RPS19 RPS17 RPL5 RPL11 IL3 EPO
3 transient erythroblastopenia of childhood 30.9 RPS19 EPO
4 deficiency anemia 30.7 RPS19 IL3 FANCG FANCD2 FANCC FANCA
5 refractory anemia 30.0 IL3 EPO
6 macrocytic anemia 28.9 RPS19 RPS17 RPL5 RPL11
7 aplastic anemia 28.8 RPS19 RPS17 RPL5 IL3 EPO
8 fanconi anemia, complementation group a 27.5 SLX4 RAD51 IL3 FANCM FANCL FANCI
9 ataxia-pancytopenia syndrome 10.5
10 wt limb-blood syndrome 10.5
11 amegakaryocytic thrombocytopenia, congenital 10.5
12 bone marrow failure syndrome 1 10.5
13 dyskeratosis congenita, autosomal dominant 6 10.5
14 hoyeraal hreidarsson syndrome 10.5
15 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 10.5
16 rare constitutional aplastic anemia 10.5
17 retinitis pigmentosa and erythrocytic microcytosis 10.5 IL3 EPO
18 fanconi anemia, complementation group i 10.5 FANCI FANCD2
19 maternal uniparental disomy of chromosome 16 10.5 SLX4 FANCA
20 fanconi anemia, complementation group o 10.4 FANCM FANCI FANCD2
21 isolated tracheoesophageal fistula 10.4 FANCC BRCA2
22 tracheoesophageal fistula with or without esophageal atresia 10.3 FANCC BRCA2
23 fanconi anemia, complementation group l 10.3 FANCL FANCD2
24 fanconi anemia, complementation group p 10.3 SLX4 FANCM FANCA
25 tracheoesophageal fistula 10.2 FANCC FANCA BRCA2
26 fanconi anemia, complementation group n 10.2 FANCM FANCI BRCA2
27 pierre robin syndrome 10.2 RPS19 RPL5
28 pancytopenia 10.1
29 hemosiderosis 10.1
30 pure red-cell aplasia 10.1
31 acquired pure red cell aplasia 10.1
32 red cell aplasia 10.1
33 fanconi anemia, complementation group v 10.0 RAD51 FANCD2 FANCA
34 thrombocytopenia 10.0
35 adenosine deaminase, elevated, hemolytic anemia due to 9.9
36 hepatocellular carcinoma 9.9
37 chromosome 5q deletion syndrome 9.9
38 chromosome 2q35 duplication syndrome 9.9
39 hemochromatosis, type 1 9.9
40 histidinemia 9.9
41 myelofibrosis 9.9
42 kearns-sayre syndrome 9.9
43 pearson marrow-pancreas syndrome 9.9
44 acute promyelocytic leukemia 9.9
45 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
46 lymphocytic leukemia 9.9
47 fanconi syndrome 9.9
48 respiratory failure 9.9
49 leukemia 9.9
50 chronic progressive external ophthalmoplegia 9.9

Comorbidity relations with Congenital Hypoplastic Anemia via Phenotypic Disease Network (PDN):


Deficiency Anemia Heart Disease

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



Diseases related to Congenital Hypoplastic Anemia

Symptoms & Phenotypes for Congenital Hypoplastic Anemia

GenomeRNAi Phenotypes related to Congenital Hypoplastic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 10.34 FAAP24 FANCC FANCF RPL11 RPL5 RPS17
2 Decreased cell number GR00303-A 10.34 RPL11 RPL5 RPS19 SLX4 RAD51
3 Decreased homologous recombination repair frequency GR00151-A-1 9.96 RAD51
4 Decreased homologous recombination repair frequency GR00151-A-2 9.96 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 9.96 BRCA2 FANCA RAD51
6 Decreased ionizing radiation sensitivity GR00232-A-1 9.7 BRCA2 FANCA FANCB FANCD2 FANCI IL3
7 Decreased viability GR00106-A-0 9.61 RAD51 RPL5 RPS17 RPS19
8 Decreased viability GR00381-A-1 9.61 RPS19
9 Decreased viability GR00402-S-2 9.61 RAD51 RPL5 RPS17 RPS19
10 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 BRCA2 FAAP24 FANCA FANCC FANCD2 FANCE

MGI Mouse Phenotypes related to Congenital Hypoplastic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 BRCA2 EPO FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.65 BRCA2 FANCA FANCB FANCC FANCD2 FANCF
3 reproductive system MP:0005389 9.32 BRCA2 FANCA FANCB FANCC FANCD2 FANCF

Drugs & Therapeutics for Congenital Hypoplastic Anemia

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

(show top 50) (show all 152)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
2
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
3 Chelating Agents Phase 4
4 Iron Chelating Agents Phase 4
5 Liver Extracts Phase 4
6 Micronutrients Phase 4
7 Nutrients Phase 4
8 Trace Elements Phase 4
9 Orange Approved Phase 3
10
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
11
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
12
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
13
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 6436030 5284616 46835353
14
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
15
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
16
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
17
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
18
Paclitaxel Approved, Vet_approved Phase 2, Phase 3 33069-62-4 36314
19
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
20
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
21
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
22
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
23 Antifungal Agents Phase 2, Phase 3
24 Antitubercular Agents Phase 2, Phase 3
25 Antilymphocyte Serum Phase 2, Phase 3
26 Anti-Infective Agents Phase 2, Phase 3
27 Antiviral Agents Phase 2, Phase 3
28 Adjuvants, Immunologic Phase 2, Phase 3
29 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
30 Albumin-Bound Paclitaxel Phase 2, Phase 3
31 Tubulin Modulators Phase 2, Phase 3
32 Antimitotic Agents Phase 2, Phase 3
33 Immunosuppressive Agents Phase 2, Phase 3
34 Antirheumatic Agents Phase 2, Phase 3
35 Immunologic Factors Phase 2, Phase 3
36 Alkylating Agents Phase 2, Phase 3
37 Antineoplastic Agents, Alkylating Phase 2, Phase 3
38 Anti-Bacterial Agents Phase 2, Phase 3
39 Antibiotics, Antitubercular Phase 2, Phase 3
40
Liposomal doxorubicin Phase 2, Phase 3 31703
41 Topoisomerase Inhibitors Phase 2, Phase 3
42
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
43
Deferiprone Approved Phase 2 30652-11-0 2972
44
Busulfan Approved, Investigational Phase 2 55-98-1 2478
45
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
46
Abatacept Approved Phase 2 332348-12-6 10237
47
Metformin Approved Phase 2 657-24-9 4091 14219
48
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
49
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
50
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5

Interventional clinical trials:

(show top 50) (show all 127)
# Name Status NCT ID Phase Drugs
1 A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study) Completed NCT00673608 Phase 4 deferasirox
2 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
3 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
4 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
5 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
6 Total Body Irradiation Dose De-escalation Study in Patients With Fanconi Anemia Undergoing Alternate Donor Hematopoietic Cell Transplantation Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
7 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
8 Randomized Phase II/III Study of Individualized Neoadjuvant Chemotherapy in ' Triple Negative' Breast Tumors Active, not recruiting NCT01057069 Phase 2, Phase 3 Carboplatin and Paclitaxel;Doxorubicin, cyclophosphamide;Doxorubicin, cyclophosphamide, carboplatin, thiotepa, cyclophosphamide
9 Randomized Phase II/III Study of Intensified Alkylating Agent Chemotherapy With Peripheral Blood Progenitor Cell Support in the Preoperative Chemotherapy of Breast Tumors That Are Deficient for Homologous Recombination. Terminated NCT00448266 Phase 2, Phase 3 Intensified Cyclophophamide, Carboplatin and Thiotepa;dose dense adriamycine and cyclophosphamide
10 Clinical Phase II Trial to Evaluate Efficacy and Safety of CD34+ Cells Mobilization and Collection After Treatment With Plerixafor and Filgrastim in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene and Reinfusion in the Patient Unknown status NCT02931071 Phase 2 filgrastim;plerixafor
11 Therapeutic Use of the Amino Acid Leucine in the Treatment of Transfusion-Dependent Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
12 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
13 PHASE II Study - EFFICACY AND SAFETY OF PARPi TO TREAT PANCREATIC CANCER Unknown status NCT02511223 Phase 2 OLAPARIB
14 Phase II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Cord Blood Transplantation in Pediatric Acute Myeloid Leukemia Unknown status NCT00887042 Phase 1, Phase 2 Fludarabine, Busulfan, Thymoglobulin
15 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
16 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
17 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
18 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
19 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
20 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
21 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01082133 Phase 2 Chemotherapy
22 Pilot Study MUD HCT:Pts High Risk Sickle Cell,Other Non-Malignant RBC Disorders- Reduced Intensity Preparative Regimen, HAPLO-Identical Mesenchymal Stromal Cells Completed NCT00957931 Phase 2
23 A Pilot Study of Recombinant Humanized Anti- Cluster of Differentiation Antigen 20 (Anti-CD20) Antibody (Rituximab) in Patients With Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
24 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
25 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
26 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
27 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
28 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
29 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
30 An Evaluation of Bortezomib (VelcadeR ) Followed by High-Dose Melphalan and Bortezomib (VelcadeR) as Conditioning Regimen for Tandem Peripheral Blood Stem Cell Transplants in Patients With Primary Refractory Multiple Myeloma and Plasma Cell Leukemia Completed NCT00307086 Phase 2 Bortezomib;Melphalan
31 Transfusion of Autologous Umbilical Cord Blood to Reverse Hyperglycemia in Children With Type 1 Diabetes - A Pilot Study Completed NCT00305344 Phase 1, Phase 2
32 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
33 Phase II Randomized Trial of ABT-888 in Combination With Metronomic Oral Cyclophosphamide in Refractory BRCA-Positive Ovarian, Primary Peritoneal, Ovarian High-Grade Serous Carcinoma, Fallopian Tube Cancer, or Triple-Negative Breast Cancer Completed NCT01306032 Phase 2 ABT-888;Cyclophosphamide
34 Phase I/II, Open-Label Study to Determine Safety and Efficacy of Sotatercept (ACE-011) in Adults With Red Blood Cell Transfusion- Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
35 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
36 T Cell Receptor Alpha/Beta T Cell Depleted (α/β TCD) Hematopoietic Cell Transplantation in Patients With Fanconi Anemia (FA) Recruiting NCT03579875 Phase 2 Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2);Rituximab
37 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
38 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
39 A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
40 Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
41 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
42 Phase I/II, Open Label Study to Determine Safety of Trifluoperazine (TFP) in Adults With Red Blood Cell Transfusion-Dependent Diamond Blackfan Anemia Recruiting NCT03966053 Phase 1, Phase 2 Trifluoperazine
43 T-Cell Depleted, Alternative Donor Transplant in Pediatric and Adult Patients With Severe Sickle Cell Disease (SCD) and Other Transfusion-Dependent Anemias Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
44 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
45 A Phase II Study of the CHK1 Inhibitor LY2606368 in Patients With Advanced Solid Tumors Exhibiting Replicative Stress or Homologous Recombination Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
46 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
47 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
48 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
49 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
50 Evaluating Immune Checkpoint Inhibition In Solid Tumor Patients With Homologous Recombination Repair Deficiency Recruiting NCT03274661 Phase 2 Pembrolizumab 200 mg Q3W

Search NIH Clinical Center for Congenital Hypoplastic Anemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Betamethasone
Bupivacaine
Cortisone acetate
Dexamethasone
Methylprednisolone
Oxymetholone
Prednisolone
Prednisone
Triamcinolone

Cochrane evidence based reviews: anemia, hypoplastic, congenital

Genetic Tests for Congenital Hypoplastic Anemia

Anatomical Context for Congenital Hypoplastic Anemia

MalaCards organs/tissues related to Congenital Hypoplastic Anemia:

41
Bone, Bone Marrow, T Cells, Breast, Liver, Myeloid, Kidney

Publications for Congenital Hypoplastic Anemia

Articles related to Congenital Hypoplastic Anemia:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 9 38
17517689 2007
2
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. 9 38
15523650 2004
3
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. 9 38
12586610 2003
4
Aplastic anemia and pure red cell aplasia. 9 38
9371275 1994
5
Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. 9 38
2040190 1991
6
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. 38
30559313 2018
7
Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment. 38
30047421 2018
8
An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. 38
30228860 2018
9
Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus. 38
25621499 2015
10
Multihormonal hypopituitarism, hypothyroidism and hypoparathyroidism in a 17-years-old girl with Diamond-Blackfan anemia and secondary hemochromatosis. 38
25577899 2013
11
Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. 38
18715690 2008
12
[Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia]. 38
18026880 2007
13
[Congenital hypoplastic anemia (Diamond-Blackfan anemia)]. 38
16018401 2005
14
Diamond-Blackfan anemia: report of 6 cases. 38
12736411 2003
15
Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation. 38
12153674 2002
16
Association between aplastic anaemia and mutations in telomerase RNA. 38
12090986 2002
17
Improved outcome of alternative donor bone marrow transplantation in children with severe aplastic anaemia using a conditioning regimen containing low-dose total body irradiation, cyclophosphamide and Campath. 38
11553001 2001
18
Modern review of congenital hypoplastic anemia. 38
11563776 2001
19
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. 38
11264183 2001
20
Diamond-Blackfan anemia. 38
11176237 2001
21
Diamond-Blackfan anemia. 38
10698294 2000
22
Diamond-Blackfan anemia. 38
9443046 1997
23
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia. 38
7626383 1995
24
Congenital hypoplastic anemia: another example of autosomal dominant transmission. 38
8160759 1994
25
[Congenital hypoplastic anemia in The Netherlands (1963-1989)]. 38
1776145 1991
26
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. 38
1956715 1991
27
Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 38
1746615 1991
28
Erythropoietin gene expression in haemopoietic cell lines. 38
1367406 1991
29
Pure red cell aplasia: review of treatment and proposal for a treatment strategy. 38
1698487 1990
30
Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. 38
2309764 1990
31
Th activation of maternal and cord blood. 38
2773030 1989
32
[Effect of continuous subcutaneous infusion of deferoxamine in a boy with congenital hypoplastic anemia]. 38
3216512 1988
33
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). 38
2904723 1988
34
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. 38
3127306 1987
35
Th activation in congenital hypoplastic anemia. 38
3296341 1987
36
Aplastic anaemia in childhood: prognosis and approach to therapy. 38
3540547 1987
37
[Studies on the pathogenesis of congenital hypoplastic anemia (Diamond-Blackfan syndrome)]. 38
3486151 1986
38
Ultrastructural studies of spontaneous in vitro transformation of cultured marrow monocyte-macrophage cells from a patient with congenital hypoplastic anemia. 38
3971383 1985
39
[Anti-thymocyte globulin therapy in severe aplastic anemia: an alternative to bone marrow transplantation]. 38
3887011 1985
40
Positive direct antiglobulin tests and heteroimmune hemolysis in patients with severe aplastic anemia and pure red cell anemia treated with antilymphocytic globulin. 38
3934901 1985
41
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. 38
6596564 1984
42
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). 38
6378273 1984
43
Human monocytic cell lines derived from cord leukocytes by co-cultivation with irradiated CM-S cells. 38
6719138 1984
44
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. 38
6646173 1983
45
Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia. 38
6196483 1983
46
Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. 38
6344915 1983
47
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. 38
6859458 1983
48
A condition resembling congenital hypoplastic anemia occurring in a mother and son. 38
7140130 1982
49
Lymphocyte dysfunction in congenital hypoplastic anemia. 38
6980901 1982
50
[Severe anemia caused by transient erythroblastopenia in young children]. 38
7135382 1982

Variations for Congenital Hypoplastic Anemia

Expression for Congenital Hypoplastic Anemia

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

Pathways for Congenital Hypoplastic Anemia

GO Terms for Congenital Hypoplastic Anemia

Cellular components related to Congenital Hypoplastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.91 SLX4 RPS19 RPS17 RPL5 RPL11 RAD51
2 ribosome GO:0005840 9.56 RPS19 RPS17 RPL5 RPL11
3 nuclear chromosome, telomeric region GO:0000784 9.54 SLX4 RAD51 BRCA2
4 lateral element GO:0000800 9.32 RAD51 BRCA2
5 Fanconi anaemia nuclear complex GO:0043240 9.28 FANCM FANCL FANCG FANCF FANCE FANCC
6 nucleus GO:0005634 10.09 SLX4 RPS19 RPL5 RPL11 RAD51 FANCM

Biological processes related to Congenital Hypoplastic Anemia according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.97 SLX4 RAD51 FANCM FANCL FANCI FANCG
2 translation GO:0006412 9.89 RPS19 RPS17 RPL5 RPL11
3 rRNA processing GO:0006364 9.81 RPS19 RPS17 RPL5 RPL11
4 DNA repair GO:0006281 9.8 SLX4 RAD51 FANCM FANCL FANCI FANCG
5 translational initiation GO:0006413 9.78 RPS19 RPS17 RPL5 RPL11
6 DNA recombination GO:0006310 9.74 SLX4 RAD51 BRCA2
7 double-strand break repair via homologous recombination GO:0000724 9.72 SLX4 RAD51 BRCA2
8 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.71 RPS19 RPS17 RPL5 RPL11
9 nucleotide-excision repair GO:0006289 9.67 SLX4 FANCC BRCA2
10 regulation of DNA-binding transcription factor activity GO:0051090 9.62 FANCD2 FANCA
11 female gonad development GO:0008585 9.62 FANCA BRCA2
12 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.62 RPS19 RPS17 RPL5 RPL11
13 neuronal stem cell population maintenance GO:0097150 9.61 FANCD2 FANCC
14 brain morphogenesis GO:0048854 9.61 FANCD2 FANCC
15 ribosomal small subunit biogenesis GO:0042274 9.6 RPS19 RPS17
16 resolution of meiotic recombination intermediates GO:0000712 9.58 SLX4 FANCM
17 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.58 RPL5 RPL11
18 regulation of regulatory T cell differentiation GO:0045589 9.56 FANCD2 FANCA
19 telomere maintenance via recombination GO:0000722 9.54 RAD51 BRCA2
20 negative regulation of ubiquitin protein ligase activity GO:1904667 9.52 RPL5 RPL11
21 cellular response to DNA damage stimulus GO:0006974 9.47 SLX4 RAD51 FANCM FANCL FANCI FANCG
22 regulation of CD40 signaling pathway GO:2000348 9.46 FANCD2 FANCA
23 negative regulation of protein neddylation GO:2000435 9.43 RPL5 RPL11
24 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
25 mitotic recombination-dependent replication fork processing GO:1990426 9.37 RAD51 BRCA2

Molecular functions related to Congenital Hypoplastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 9.56 RPS19 RPS17 RPL5 RPL11
2 5S rRNA binding GO:0008097 9.32 RPL5 RPL11
3 ubiquitin ligase inhibitor activity GO:1990948 8.96 RPL5 RPL11
4 DNA polymerase binding GO:0070182 8.8 RAD51 FANCI FANCD2
5 protein binding GO:0005515 10.09 SLX4 RPS19 RPL5 RPL11 RAD51 FANCM

Sources for Congenital Hypoplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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