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 71
Constitutional Aplastic Anaemia 12 32
Anemia, Hypoplastic, Congenital 74 43
Congenital Aplastic Anemia 12 52
Constitutional Aplastic Anemia 71
Anemia Hypoplastic Congenital 54
Anemia, Diamond-Blackfan 71
Fanconi Anemia 71

Classifications:



External Ids:

Disease Ontology 12 DOID:1342
ICD9CM 34 284.0
MeSH 43 D029502
SNOMED-CT 67 28975000 88854002
ICD10 32 D61.0 D61.01
UMLS 71 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 and amegakaryocytic thrombocytopenia, congenital. An important gene associated with Congenital Hypoplastic Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Chks in Checkpoint Regulation and DNA Double-Strand Break Repair. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Decreased homologous recombination repair frequency

Wikipedia : 74 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 125)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 34.2 U2AF1 RPS19 IL3 EPO
2 amegakaryocytic thrombocytopenia, congenital 31.6 U2AF1 RPS19 IL3 FANCB
3 fanconi anemia, complementation group a 31.6 U2AF1 SLX4 RAD51 PALB2 IL3 H2AC18
4 deficiency anemia 31.1 U2AF1 RPS19 IL3 H2AC18 FANCG FANCF
5 transient erythroblastopenia of childhood 31.1 RPS19 EPO
6 pancytopenia 31.0 U2AF1 IL3 FANCA EPO
7 refractory anemia 30.7 IL3 EPO
8 aplastic anemia 29.9 U2AF1 RPS19 IL3 H2AC18 FANCM FANCI
9 diamond-blackfan anemia 1 11.7
10 maternal uniparental disomy 10.7 SLX4 FANCA
11 maternal uniparental disomy of chromosome 16 10.7 SLX4 FANCA
12 retinitis pigmentosa and erythrocytic microcytosis 10.7 IL3 EPO
13 thrombophlebitis migrans 10.6 SLX4 FANCI FANCA
14 mast cell neoplasm 10.6 U2AF1 IL3 H2AC18
15 fanconi anemia, complementation group l 10.6 FANCL FANCI FANCD2
16 tracheoesophageal fistula with or without esophageal atresia 10.6 PALB2 FANCC BRCA2
17 interstitial nephritis, karyomegalic 10.6 SLX4 FANCI FANCD2
18 primary polycythemia 10.6 U2AF1 IL3 H2AC18 EPO
19 fanconi anemia, complementation group i 10.6 H2AC18 FANCM FANCI FANCD2
20 myelophthisic anemia 10.6 U2AF1 EPO
21 blood coagulation disease 10.6 U2AF1 IL3 H2AC18 EPO
22 uterine corpus cancer 10.6 U2AF1 H2AC18 BRCA2
23 xeroderma pigmentosum, complementation group d 10.6 RAD51 H2AC18 ERCC6
24 rothmund-thomson syndrome, type 2 10.6 RAD51 FANCM ERCC6
25 xeroderma pigmentosum, complementation group f 10.6 SLX4 FANCM FANCD2 ERCC6
26 bone marrow cancer 10.6 U2AF1 IL3 H2AC18 EPO
27 blood platelet disease 10.6 U2AF1 IL3 H2AC18 EPO
28 thrombocytosis 10.6 U2AF1 IL3 EPO
29 endemic typhus 10.6 RPS19 H2AC18
30 vacterl association 10.6 FANCL FANCI FANCB
31 isolated growth hormone deficiency, type ia 10.6 U2AF1 H2AC18 BRCA2
32 ovary epithelial cancer 10.6 U2AF1 H2AC18 ERCC6 BRCA2
33 esophageal atresia/tracheoesophageal fistula 10.5 FANCC FANCB FANCA BRCA2
34 x-linked recessive disease 10.5 U2AF1 H2AC18 ERCC6
35 bilateral breast cancer 10.5 RAD51 PALB2 BRCA2
36 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.5 U2AF1 H2AC18 ERCC6 BRCA2
37 malignant ovarian surface epithelial-stromal neoplasm 10.5 H2AC18 ERCC6 BRCA2
38 trichothiodystrophy 1, photosensitive 10.5 RAD51 H2AC18 ERCC6
39 peripheral vascular disease 10.5 H2AC18 ERCC6 EPO
40 ataxia-pancytopenia syndrome 10.5
41 wt limb-blood syndrome 10.5
42 bone marrow failure syndrome 1 10.5
43 dyskeratosis congenita, autosomal dominant 6 10.5
44 hoyeraal hreidarsson syndrome 10.5
45 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 10.5
46 rare constitutional aplastic anemia 10.5
47 bloom syndrome 10.5 RAD51 FANCM FANCA BRCA2
48 gonadal disease 10.5 U2AF1 H2AC18 ERCC6 BRCA2
49 chromosomal disease 10.5 U2AF1 H2AC18 ERCC6
50 female reproductive system disease 10.5 U2AF1 H2AC18 ERCC6 BRCA2

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 BRCA2 ERCC6 FANCA FANCC FANCD2 FANCE
2 Decreased homologous recombination repair frequency GR00151-A-1 9.63 RAD51
3 Decreased homologous recombination repair frequency GR00151-A-2 9.63 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-3 9.63 BRCA2 FANCA PALB2 RAD51
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 BRCA2 ERCC6 FANCA FANCD2 FANCM PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 BRCA2 ERCC6 FANCA FANCD2 FANCM PALB2

MGI Mouse Phenotypes related to Congenital Hypoplastic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 BRCA2 EPO ERCC6 FANCA FANCB FANCC
2 endocrine/exocrine gland MP:0005379 10.11 BRCA2 FANCA FANCB FANCC FANCD2 FANCE
3 growth/size/body region MP:0005378 10.1 BRCA2 ERCC6 FANCA FANCB FANCD2 FANCE
4 mortality/aging MP:0010768 9.97 BRCA2 EPO ERCC6 FANCA FANCD2 FANCF
5 limbs/digits/tail MP:0005371 9.8 BRCA2 EPO ERCC6 FANCD2 PALB2 RPS19
6 neoplasm MP:0002006 9.5 BRCA2 ERCC6 FANCA FANCD2 FANCF FANCM
7 reproductive system MP:0005389 9.36 BRCA2 FANCA FANCB FANCC FANCD2 FANCE

Drugs & Therapeutics for Congenital Hypoplastic Anemia

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

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
3 Iron Chelating Agents Phase 4
4 Chelating Agents Phase 4
5 Liver Extracts Phase 4
6 Nutrients Phase 4
7 Trace Elements Phase 4
8 Micronutrients 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 5284616 6436030 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
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
17
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 32326 21704
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 Anti-Infective Agents Phase 2, Phase 3
26 Antilymphocyte Serum Phase 2, Phase 3
27 Antiviral Agents Phase 2, Phase 3
28 Adjuvants, Immunologic Phase 2, Phase 3
29 Antimitotic Agents Phase 2, Phase 3
30 Albumin-Bound Paclitaxel Phase 2, Phase 3
31 Immunologic Factors Phase 2, Phase 3
32 Antirheumatic Agents Phase 2, Phase 3
33 Immunosuppressive Agents Phase 2, Phase 3
34 Alkylating Agents Phase 2, Phase 3
35 Antibiotics, Antitubercular Phase 2, Phase 3
36 Anti-Bacterial Agents Phase 2, Phase 3
37 Topoisomerase Inhibitors Phase 2, Phase 3
38
Liposomal doxorubicin Phase 2, Phase 3 31703
39
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
40
Deferiprone Approved Phase 2 30652-11-0 2972
41
Busulfan Approved, Investigational Phase 2 55-98-1 2478
42
Melphalan Approved Phase 2 148-82-3 4053 460612
43
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
44
leucovorin Approved Phase 2 58-05-9 6006 143
45
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
46
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
47
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
48
Abatacept Approved Phase 2 332348-12-6 10237
49
Metformin Approved Phase 2 657-24-9 14219 4091
50
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5

Interventional clinical trials:

(show top 50) (show all 130)
# 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 Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
24 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
25 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
26 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
27 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.
28 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
29 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
30 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
31 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
32 Transfusion of Autologous Umbilical Cord Blood to Reverse Hyperglycemia in Children With Type 1 Diabetes - A Pilot Study Completed NCT00305344 Phase 1, Phase 2
33 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
34 A Phase 1/2 Trial of SRA737 (a Chk1 Inhibitor) Administered Orally in Subjects With Advanced Cancer Completed NCT02797964 Phase 1, Phase 2 SRA737
35 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
36 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
37 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
38 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
39 A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients With Fanconi Anemia Subtype A Recruiting NCT04069533 Phase 2
40 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
41 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
42 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
43 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
44 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
45 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
46 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
47 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
48 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
49 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
50 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag

Search NIH Clinical Center for Congenital Hypoplastic Anemia

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:

40
Bone, Bone Marrow, Breast, T Cells, Myeloid, Liver, 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. 54 61
17517689 2007
2
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. 54 61
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. 54 61
12586610 2003
4
Aplastic anemia and pure red cell aplasia. 54 61
9371275 1994
5
Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. 54 61
2040190 1991
6
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. 61
30559313 2018
7
Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment. 61
30047421 2018
8
An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. 61
30228860 2018
9
Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus. 61
25621499 2015
10
Multihormonal hypopituitarism, hypothyroidism and hypoparathyroidism in a 17-years-old girl with Diamond-Blackfan anemia and secondary hemochromatosis. 61
25577899 2013
11
Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. 61
18715690 2008
12
[Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia]. 61
18026880 2007
13
[Congenital hypoplastic anemia (Diamond-Blackfan anemia)]. 61
16018401 2005
14
Diamond-Blackfan anemia: report of 6 cases. 61
12736411 2003
15
Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation. 61
12153674 2002
16
Association between aplastic anaemia and mutations in telomerase RNA. 61
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. 61
11553001 2001
18
Modern review of congenital hypoplastic anemia. 61
11563776 2001
19
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. 61
11264183 2001
20
Diamond-Blackfan anemia. 61
11176237 2001
21
Diamond-Blackfan anemia. 61
10698294 2000
22
Diamond-Blackfan anemia. 61
9443046 1997
23
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia. 61
7626383 1995
24
Congenital hypoplastic anemia: another example of autosomal dominant transmission. 61
8160759 1994
25
[Congenital hypoplastic anemia in The Netherlands (1963-1989)]. 61
1776145 1991
26
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. 61
1956715 1991
27
Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 61
1746615 1991
28
Erythropoietin gene expression in haemopoietic cell lines. 61
1367406 1991
29
Pure red cell aplasia: review of treatment and proposal for a treatment strategy. 61
1698487 1990
30
Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. 61
2309764 1990
31
Th activation of maternal and cord blood. 61
2773030 1989
32
[Effect of continuous subcutaneous infusion of deferoxamine in a boy with congenital hypoplastic anemia]. 61
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). 61
2904723 1988
34
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. 61
3127306 1987
35
Th activation in congenital hypoplastic anemia. 61
3296341 1987
36
Aplastic anaemia in childhood: prognosis and approach to therapy. 61
3540547 1987
37
[Studies on the pathogenesis of congenital hypoplastic anemia (Diamond-Blackfan syndrome)]. 61
3486151 1986
38
Ultrastructural studies of spontaneous in vitro transformation of cultured marrow monocyte-macrophage cells from a patient with congenital hypoplastic anemia. 61
3971383 1985
39
[Anti-thymocyte globulin therapy in severe aplastic anemia: an alternative to bone marrow transplantation]. 61
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. 61
3934901 1985
41
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. 61
6596564 1984
42
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). 61
6378273 1984
43
Human monocytic cell lines derived from cord leukocytes by co-cultivation with irradiated CM-S cells. 61
6719138 1984
44
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. 61
6646173 1983
45
Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia. 61
6196483 1983
46
Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. 61
6344915 1983
47
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. 61
6859458 1983
48
A condition resembling congenital hypoplastic anemia occurring in a mother and son. 61
7140130 1982
49
Lymphocyte dysfunction in congenital hypoplastic anemia. 61
6980901 1982
50
[Severe anemia caused by transient erythroblastopenia in young children]. 61
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

Pathways related to Congenital Hypoplastic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 RAD51 FANCG FANCF FANCE FANCD2 FANCC
2
Show member pathways
12.5 SLX4 RAD51 PALB2 FANCM FANCL FANCI
3 12.24 RAD51 FANCD2 FANCB FANCA BRCA2
4
Show member pathways
12.03 SLX4 RAD51 PALB2 BRCA2
5
Show member pathways
11.88 SLX4 RAD51 PALB2 BRCA2
6 11.77 SLX4 RAD51 PALB2 FANCM FANCL FANCI
7
Show member pathways
11.73 RAD51 FANCL FANCG FANCF FANCE FANCD2
8 11.32 RAD51 FANCL FANCG FANCF FANCE FANCD2

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 nucleus GO:0005634 10.11 U2AF1 SLX4 RPS19 RAD51 PALB2 H2AC18
2 nucleoplasm GO:0005654 9.89 U2AF1 SLX4 RPS19 RAD51 PALB2 FANCM
3 lateral element GO:0000800 9.26 RAD51 BRCA2
4 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCM FANCL FANCG FANCF FANCE FANCC

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.93 SLX4 RAD51 FANCM FANCL FANCI FANCG
2 cellular response to DNA damage stimulus GO:0006974 9.83 SLX4 RAD51 PALB2 FANCM FANCL FANCI
3 DNA recombination GO:0006310 9.73 SLX4 RAD51 PALB2 BRCA2
4 nucleotide-excision repair GO:0006289 9.67 SLX4 FANCC BRCA2
5 response to gamma radiation GO:0010332 9.63 FANCD2 ERCC6 BRCA2
6 brain morphogenesis GO:0048854 9.58 FANCD2 FANCC
7 resolution of meiotic recombination intermediates GO:0000712 9.57 SLX4 FANCM
8 regulation of regulatory T cell differentiation GO:0045589 9.56 FANCD2 FANCA
9 double-strand break repair via homologous recombination GO:0000724 9.56 SLX4 RAD51 PALB2 BRCA2
10 inner cell mass cell proliferation GO:0001833 9.55 PALB2 BRCA2
11 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.54 FANCB ERCC6
12 gamete generation GO:0007276 9.54 FANCL FANCD2 FANCC
13 telomere maintenance via recombination GO:0000722 9.52 RAD51 BRCA2
14 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.51 RAD51 FANCB
15 response to X-ray GO:0010165 9.5 RAD51 ERCC6 BRCA2
16 DNA repair GO:0006281 9.5 SLX4 RAD51 PALB2 FANCM FANCL FANCI
17 regulation of CD40 signaling pathway GO:2000348 9.48 FANCD2 FANCA
18 mitotic recombination-dependent replication fork processing GO:1990426 9.4 RAD51 BRCA2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 U2AF1 SLX4 RPS19 RAD51 PALB2 FANCM
2 DNA polymerase binding GO:0070182 8.8 RAD51 FANCI FANCD2

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 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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