MCID: CNG028
MIFTS: 51

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 74
Anemia, Hypoplastic, Congenital 77 45
Congenital Aplastic Anemia 12 54
Constitutional Aplastic Anaemia 12
Constitutional Aplastic Anemia 74
Anemia, Diamond-Blackfan 74
Fanconi Anemia 74

Classifications:



External Ids:

Disease Ontology 12 DOID:1342
ICD9CM 36 284.0
MeSH 45 D029502
SNOMED-CT 69 28975000 88854002
ICD10 34 D61.0 D61.01

Summaries for Congenital Hypoplastic Anemia

MalaCards based summary : Congenital Hypoplastic Anemia, also known as anemia, hypoplastic, congenital, is related to diamond-blackfan anemia and diamond-blackfan anemia 1. An important gene associated with Congenital Hypoplastic Anemia is FANCD2 (FA Complementation Group D2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Wikipedia : 77 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 64)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 32.8 RPL11 RPL5 RPS17 RPS19
2 diamond-blackfan anemia 1 32.1 RPL5 RPS19
3 deficiency anemia 30.0 FANCA FANCC FANCD2 FANCG RPS19
4 fanconi anemia, complementation group a 28.0 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC
5 ataxia-pancytopenia syndrome 10.4
6 wt limb-blood syndrome 10.4
7 amegakaryocytic thrombocytopenia, congenital 10.4
8 bone marrow failure syndrome 1 10.4
9 dyskeratosis congenita, autosomal dominant 6 10.4
10 dyskeratosis congenita 10.4
11 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 10.4
12 fanconi anemia, complementation group i 10.3 FANCD2 FANCI
13 maternal uniparental disomy of chromosome 16 10.3 FANCA SLX4
14 fanconi anemia, complementation group o 10.3 FANCD2 FANCI FANCM
15 aplastic anemia 10.2
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
17 fanconi anemia, complementation group p 10.2 FANCA FANCM SLX4
18 fanconi anemia, complementation group l 10.2 FANCD2 FANCL
19 pierre robin syndrome 10.1 RPL5 RPS19
20 pancreatic neuroendocrine tumor 10.1 BRCA2 PALB2
21 leukemia 10.1
22 tracheoesophageal fistula with or without esophageal atresia 10.0 BRCA2 FANCC PALB2
23 isolated tracheoesophageal fistula 10.0 BRCA2 FANCC PALB2
24 fanconi anemia, complementation group d2 10.0 BRCA2 FANCA FANCD2 RAD51
25 hereditary site-specific ovarian cancer syndrome 10.0 BRCA1 BRCA2
26 squamous cell carcinoma, head and neck 9.9 FANCA FANCC FANCE FANCF FANCL
27 tuberculous salpingitis 9.9 BRCA1 BRCA2
28 tracheoesophageal fistula 9.9 BRCA2 FANCA FANCC PALB2
29 nosophobia 9.9 BRCA1 BRCA2
30 cancerophobia 9.9 BRCA1 BRCA2
31 fanconi anemia, complementation group n 9.9 BRCA2 FANCI FANCM PALB2
32 breast reconstruction 9.9 BRCA1 BRCA2
33 hepatocellular carcinoma 9.9
34 chromosome 5q deletion syndrome 9.9
35 transient erythroblastopenia of childhood 9.9
36 histidinemia 9.9
37 myelofibrosis 9.9
38 acute promyelocytic leukemia 9.9
39 fanconi syndrome 9.9
40 polycythemia 9.9
41 refractory anemia 9.9
42 shwachman-diamond syndrome 1 9.9
43 breast-ovarian cancer, familial 1 9.9 BRCA1 BRCA2
44 fanconi anemia, complementation group f 9.9 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
45 fallopian tube adenocarcinoma 9.9 BRCA1 BRCA2
46 synchronous bilateral breast carcinoma 9.8 BRCA1 BRCA2
47 fanconi anemia, complementation group u 9.8 BRCA1 FANCD2 RAD51
48 macrocytic anemia 9.7 RPL11 RPL5 RPS17 RPS19
49 fanconi anemia, complementation group v 9.7 BRCA1 FANCA FANCD2 RAD51
50 glycogen-rich clear cell breast carcinoma 9.7 BRCA1 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:

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.97 BRCA1 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.97 BRCA1 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.97 BRCA1 BRCA2 FANCA FANCI PALB2 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.97 BRCA1 BRCA2 FANCA FANCI PALB2 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.97 BRCA1 BRCA2 FANCA PALB2 RAD51
6 Decreased cell number GR00098-A-1 10.52 RPL11 RPL5 RPS19 SLX4 BRCA1 FAAP24
7 Decreased cell number GR00303-A 10.52 RAD51 RPL11 RPL5 RPS19 SLX4
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.1 BRCA1 BRCA2 FAAP24 FANCA FANCC FANCD2
9 Decreased viability GR00106-A-0 10.06 RAD51 RPL5 RPS17 RPS19
10 Decreased viability GR00381-A-1 10.06 RPS19
11 Decreased viability GR00402-S-2 10.06 RAD51 RPL5 RPS17 RPS19
12 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 9.85 BRCA1 RAD51 RPL11 RPL5 RPS17 RPS19
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 BRCA1 BRCA2 FANCA FANCD2 FANCM PALB2
14 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 BRCA1 BRCA2 FANCA FANCD2 FANCM PALB2
15 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.63 BRCA1 BRCA2 RAD51 RPL11 RPS17 RPS19
16 Decreased viability with cisplatin GR00101-A-4 9.5 BRCA1 BRCA2 RAD51
17 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 RAD51

MGI Mouse Phenotypes related to Congenital Hypoplastic Anemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 BRCA1 BRCA2 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 10.06 BRCA1 BRCA2 FANCA FANCB FANCC FANCD2
3 mortality/aging MP:0010768 9.93 BRCA1 BRCA2 FANCA FANCD2 FANCF FANCI
4 limbs/digits/tail MP:0005371 9.73 BRCA1 BRCA2 FANCD2 PALB2 RPS19 SLX4
5 neoplasm MP:0002006 9.5 BRCA1 BRCA2 FANCA FANCD2 FANCF FANCM
6 reproductive system MP:0005389 9.36 BRCA1 BRCA2 FANCA FANCB FANCC FANCD2

Drugs & Therapeutics for Congenital Hypoplastic Anemia

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
2
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 2,Phase 1
4 Iron Chelating Agents Phase 4,Phase 3,Phase 2
5 Nutrients Phase 4,Phase 3,Phase 2
6 Chelating Agents Phase 4,Phase 3,Phase 2
7 Trace Elements Phase 4,Phase 3,Phase 2
8 Micronutrients Phase 4,Phase 3,Phase 2
9
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
10
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 24356-66-9 21704 32326
11
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
13
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
14
Lenograstim Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 135968-09-1
15 Orange Approved Phase 3
16
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
17
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
18
Sargramostim Approved, Investigational Phase 2, Phase 3,Phase 1 123774-72-1, 83869-56-1
19
Everolimus Approved Phase 2, Phase 3,Phase 1 159351-69-6 6442177 70789204
20
Sirolimus Approved, Investigational Phase 2, Phase 3,Phase 1 53123-88-9 46835353 6436030 5284616
21 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
22 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
23 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
24 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
25 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
26 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
27 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
28 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
29 Antiviral Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
30 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
31 Adjuvants, Immunologic Phase 2, Phase 3,Phase 1
32 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
33 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
34 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
35 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
36 Antineoplastic Agents, Immunological Phase 2, Phase 3,Phase 1
37
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
38
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
39
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
40
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
41
Melphalan Approved Phase 2,Phase 1,Not Applicable,Early Phase 1 148-82-3 460612 4053
42
rituximab Approved Phase 2,Phase 1,Not Applicable 174722-31-7 10201696
43
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
44
Methotrexate Approved Phase 2,Phase 1 1959-05-2, 59-05-2 126941
45
leucovorin Approved Phase 2,Phase 1 58-05-9 6006 143
46
Deferiprone Approved Phase 2 30652-11-0 2972
47
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 52-24-4 5453
48
Hydroxyurea Approved Phase 1, Phase 2,Phase 2 127-07-1 3657
49
Tacrolimus Approved, Investigational Phase 1, Phase 2,Phase 2 104987-11-3 445643 439492 6473866
50
Metformin Approved Phase 2 657-24-9 14219 4091

Interventional clinical trials:

(show top 50) (show all 112)
# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
4 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
5 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
6 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
7 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
8 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
9 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Unknown status NCT02931071 Phase 2 filgrastim;plerixafor
10 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
11 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
12 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
13 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
14 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
15 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Completed NCT00957931 Phase 2
16 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
17 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
18 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
19 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
20 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
21 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
22 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
23 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
24 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2 AMD3100
25 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
26 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 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
29 T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
30 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
31 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
32 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
33 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
34 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
35 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
36 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
37 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
38 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
39 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
40 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
41 T Cell Receptor α/β TCD HCT in Patients With Fanconi Anemia 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
42 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
43 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
44 A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
45 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
46 Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia Active, not recruiting NCT01362595 Phase 1, Phase 2 leucine
47 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Active, not recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
48 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
49 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
50 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil

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:

42
Bone, Bone Marrow, T Cells, Kidney, Liver, Myeloid, Heart

Publications for Congenital Hypoplastic Anemia

Articles related to Congenital Hypoplastic Anemia:

(show all 50)
# Title Authors Year
1
Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. ( 30559313 )
2018
2
Modern review of congenital hypoplastic anemia. ( 11563776 )
2001
3
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia. ( 7626383 )
1995
4
Congenital hypoplastic anemia: another example of autosomal dominant transmission. ( 8160759 )
1994
5
Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. ( 2040190 )
1991
6
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. ( 1956715 )
1991
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
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. ( 3127306 )
1987
9
Th activation in congenital hypoplastic anemia. ( 3296341 )
1987
10
Ultrastructural studies of spontaneous in vitro transformation of cultured marrow monocyte-macrophage cells from a patient with congenital hypoplastic anemia. ( 3971383 )
1985
11
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 6378273 )
1984
12
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. ( 6596564 )
1984
13
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. ( 6859458 )
1983
14
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. ( 6646173 )
1983
15
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 6211527 )
1982
16
Lymphocyte dysfunction in congenital hypoplastic anemia. ( 6980901 )
1982
17
Congenital hypoplastic anemia (CHA) associated with congenital absence of the spleen. ( 7149172 )
1982
18
A condition resembling congenital hypoplastic anemia occurring in a mother and son. ( 7140130 )
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
Myelofibrosis-polycythemia syndrome on congenital hypoplastic anemia: a case report. ( 6938095 )
1980
22
Bone-marrow microenvironment defect in congenital hypoplastic anemia. ( 7374678 )
1980
23
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. ( 276838 )
1978
24
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. ( 273451 )
1978
25
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. ( 747770 )
1978
26
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome. ( 747771 )
1978
27
Bone marrow transplantation in congenital hypoplastic anemia. ( 321049 )
1977
28
Erythroid colony growth in congenital hypoplastic anemia. ( 1249203 )
1976
29
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 180802 )
1976
30
Congenital hypoplastic anemia. ( 773132 )
1976
31
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. ( 131849 )
1976
32
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 786411 )
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
Congenital hypoplastic anemia, report of two cases. ( 5514640 )
1970
38
Treatment of congenital hypoplastic anemia with prednisone. ( 5447959 )
1970
39
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 5414410 )
1970
40
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. ( 5388366 )
1969
41
Congenital hypoplastic anemia. Review of eight cases. ( 6037298 )
1967
42
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). ( 5938027 )
1966
43
Congenital hypoplastic anemia. Report of a case recognized in infant at 3 days of age. ( 14036472 )
1962
44
Congenital hypoplastic anemia. ( 13608755 )
1958
45
Congenital hypoplastic anemia. ( 13400593 )
1957
46
CONGENITAL hypoplastic anemia. ( 13452260 )
1957
47
DEFECT in tryptophan metabolism in congenital hypoplastic anemia. ( 13154742 )
1954
48
Congenital hypoplastic anemia. ( 13155070 )
1954
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

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC
2
Show member pathways
12.69 BRCA1 BRCA2 FANCD2 FANCL RAD51
3
Show member pathways
12.58 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
4 12.32 BRCA1 BRCA2 FANCA FANCB FANCD2 RAD51
5
Show member pathways
12.15 BRCA1 BRCA2 PALB2 RAD51 SLX4
6 12.03 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC
7
Show member pathways
11.98 BRCA1 BRCA2 PALB2 RAD51 SLX4
8
Show member pathways
11.61 BRCA1 FANCD2 RAD51
9
Show member pathways
11.57 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
10 11.43 BRCA1 BRCA2 FANCD2 FANCL RAD51
11 11.3 BRCA1 FANCD2 FANCL
12 10.74 BRCA1 FANCA FANCC FANCD2 FANCE FANCF

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 9.96 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC
2 protein-containing complex GO:0032991 9.83 BRCA1 BRCA2 RAD51 RPL11 RPL5
3 ribosome GO:0005840 9.67 RPL11 RPL5 RPS17 RPS19
4 nuclear chromosome, telomeric region GO:0000784 9.58 BRCA2 RAD51 SLX4
5 condensed chromosome GO:0000793 9.5 BRCA1 FANCD2 RAD51
6 lateral element GO:0000800 9.43 BRCA1 BRCA2 RAD51
7 Fanconi anaemia nuclear complex GO:0043240 9.28 FAAP24 FANCA FANCB FANCC FANCE FANCF
8 nucleus GO:0005634 10.13 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.91 RPL11 RPL5 RPS17 RPS19
2 DNA repair GO:0006281 9.86 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC
3 rRNA processing GO:0006364 9.85 RPL11 RPL5 RPS17 RPS19
4 translational initiation GO:0006413 9.81 RPL11 RPL5 RPS17 RPS19
5 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.76 RPL11 RPL5 RPS17 RPS19
6 DNA recombination GO:0006310 9.72 BRCA1 BRCA2 PALB2 RAD51 SLX4
7 nucleotide-excision repair GO:0006289 9.71 BRCA2 FANCC SLX4
8 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.71 RPL11 RPL5 RPS17 RPS19
9 double-strand break repair via homologous recombination GO:0000724 9.65 BRCA1 BRCA2 PALB2 RAD51 SLX4
10 regulation of DNA-binding transcription factor activity GO:0051090 9.64 FANCA FANCD2
11 female gonad development GO:0008585 9.63 BRCA2 FANCA
12 neuronal stem cell population maintenance GO:0097150 9.63 FANCC FANCD2
13 brain morphogenesis GO:0048854 9.62 FANCC FANCD2
14 ribosomal small subunit biogenesis GO:0042274 9.62 RPS17 RPS19
15 resolution of meiotic recombination intermediates GO:0000712 9.61 FANCM SLX4
16 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.6 RPL11 RPL5
17 regulation of regulatory T cell differentiation GO:0045589 9.59 FANCA FANCD2
18 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 BRCA1 BRCA2
19 inner cell mass cell proliferation GO:0001833 9.58 BRCA2 PALB2
20 telomere maintenance via recombination GO:0000722 9.57 BRCA2 RAD51
21 negative regulation of ubiquitin protein ligase activity GO:1904667 9.56 RPL11 RPL5
22 gamete generation GO:0007276 9.54 FANCC FANCD2 FANCL
23 chordate embryonic development GO:0043009 9.52 BRCA1 BRCA2
24 negative regulation of protein neddylation GO:2000435 9.49 RPL11 RPL5
25 regulation of CD40 signaling pathway GO:2000348 9.48 FANCA FANCD2
26 interstrand cross-link repair GO:0036297 9.44 FAAP24 FANCA FANCB FANCC FANCD2 FANCE
27 mitotic recombination-dependent replication fork processing GO:1990426 9.43 BRCA2 RAD51
28 cellular response to DNA damage stimulus GO:0006974 10.06 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC

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 9.91 BRCA1 BRCA2 FAAP24 FANCA FANCB FANCC
2 ubiquitin protein ligase binding GO:0031625 9.67 BRCA1 FANCL RPL11 RPL5
3 structural constituent of ribosome GO:0003735 9.56 RPL11 RPL5 RPS17 RPS19
4 5S rRNA binding GO:0008097 9.32 RPL11 RPL5
5 ubiquitin ligase inhibitor activity GO:1990948 9.16 RPL11 RPL5
6 DNA polymerase binding GO:0070182 8.8 FANCD2 FANCI RAD51

Sources for Congenital Hypoplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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