MCID: CNG028
MIFTS: 47

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 73
Anemia, Hypoplastic, Congenital 76 44
Congenital Aplastic Anemia 12 53
Constitutional Aplastic Anaemia 12
Constitutional Aplastic Anemia 73
Anemia, Diamond-Blackfan 73
Fanconi Anemia 73

Classifications:



External Ids:

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

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 RPS17 (Ribosomal Protein S17), and among its related pathways/superpathways are Gene Expression 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 monocytes, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Wikipedia : 76 Congenital hypoplastic anemia (or constitutional aplastic anemia) is a type of aplastic anemia which is... more...

Related Diseases for Congenital Hypoplastic Anemia

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 32.7 RPL11 RPL35A RPL5 RPS17 RPS19
2 diamond-blackfan anemia 1 31.9 RPL5 RPS19
3 fanconi anemia, complementation group a 29.5 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC
4 ataxia-pancytopenia syndrome 10.4
5 wt limb-blood syndrome 10.4
6 amegakaryocytic thrombocytopenia, congenital 10.4
7 bone marrow failure syndrome 1 10.4
8 dyskeratosis congenita, autosomal dominant 6 10.4
9 dyskeratosis congenita 10.4
10 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 10.4
11 aplastic anemia 10.2
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
13 maternal uniparental disomy of chromosome 16 10.2 FANCA SLX4
14 fanconi anemia, complementation group i 10.2 FANCD2 FANCI
15 fanconi anemia, complementation group o 10.2 FANCD2 FANCI FANCM
16 tracheoesophageal fistula with or without esophageal atresia 10.1 BRCA2 FANCC
17 isolated tracheoesophageal fistula 10.1 BRCA2 FANCC
18 fanconi anemia, complementation group p 10.1 FANCA FANCM SLX4
19 fanconi anemia, complementation group l 10.1 FANCD2 FANCL
20 fanconi anemia, complementation group v 10.1 FANCA FANCD2 RAD51
21 leukemia 10.0
22 deficiency anemia 10.0 FANCA FANCC FANCD2 FANCG RPS19
23 sporadic breast cancer 10.0 BRCA2 FANCD2 RAD51
24 fanconi anemia, complementation group d2 10.0 BRCA2 FANCA FANCD2 RAD51
25 fanconi anemia, complementation group u 9.9 FANCD2 RAD51
26 squamous cell carcinoma, head and neck 9.9 FANCA FANCC FANCE FANCF FANCL
27 shwachman-diamond syndrome 1 9.9
28 hepatocellular carcinoma 9.9
29 chromosome 5q deletion syndrome 9.9
30 transient erythroblastopenia of childhood 9.9
31 histidinemia 9.9
32 myelofibrosis 9.9
33 acute promyelocytic leukemia 9.9
34 fanconi syndrome 9.9
35 polycythemia 9.9
36 refractory anemia 9.9
37 tracheoesophageal fistula 9.9 BRCA2 BRIP1 FANCA FANCC
38 fanconi anemia, complementation group n 9.9 BRCA2 BRIP1 FANCI FANCM
39 fanconi anemia, complementation group f 9.9 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
40 pierre robin syndrome 9.9 RPL35A RPL5 RPS17
41 fanconi anemia, complementation group e 9.8 FANCA FANCC FANCD2 FANCE FANCF FANCG
42 fanconi anemia, complementation group b 9.8 FANCA FANCC FANCD2 FANCE FANCF FANCG
43 hereditary breast ovarian cancer syndrome 9.8 BRCA2 BRIP1 RAD51
44 fanconi anemia, complementation group r 9.8 FANCD2 FANCE FANCI FANCL FANCM RAD51
45 fanconi anemia, complementation group d1 9.8 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
46 fanconi anemia, complementation group t 9.7 FANCA FANCD2 FANCE FANCI FANCL FANCM
47 fanconi anemia, complementation group j 9.7 BRIP1 FANCA FANCC FANCD2 FANCI FANCL
48 macrocytic anemia 9.7 RPL11 RPL35A RPL5 RPS17 RPS19
49 fanconi anemia, complementation group q 9.5 BRCA2 FANCA FANCD2 FANCE FANCI FANCL

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 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.75 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.75 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.75 BRCA2 FANCA FANCI RAD51 RPL11 RPL5
4 Decreased homologous recombination repair frequency GR00236-A-2 10.75 BRCA2 FANCA FANCI RAD51 RPL11 RPL5
5 Decreased homologous recombination repair frequency GR00236-A-3 10.75 BRCA2 FANCA RAD51
6 Decreased viability GR00106-A-0 10.15 RAD51 RPL5 RPS17 RPS19
7 Decreased viability GR00381-A-1 10.15 RPS19
8 Decreased viability GR00402-S-2 10.15 RAD51 RPL5 RPS17 RPS19
9 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.13 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
10 Increased viability GR00386-A-1 10.11 BRIP1 FAAP24 FANCI FANCM RAD51 RPL11
11 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 10.06 FAAP24 FANCC FANCF RPL11 RPL35A RPL5
12 Decreased ionizing radiation sensitivity GR00232-A-1 10.05 BRCA2 BRIP1 FANCA FANCD2 FANCI RPL35A
13 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.95 RAD51 RPL11 RPL35A RPL5 RPS17 RPS19
14 Decreased cell number GR00303-A 9.93 RAD51 RPL11 RPL5 RPS19 SLX4
15 G0/1 arrest GR00098-A-2 9.83 FANCC FANCF RPL11 RPL35A RPS19
16 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.73 BRCA2 RAD51 RPL11 RPL35A RPS17 RPS19
17 Decreased viability with cisplatin GR00101-A-4 9.63 BRCA2 BRIP1 RAD51
18 Nuclear 60S biogenesis defects GR00209-A-3 9.33 RPL11 RPL35A RPL5
19 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.26 RPL11 RPL35A RPL5 RPS17
20 Synthetic lethal with cisplatin GR00101-A-1 8.8 BRCA2 BRIP1 RAD51

MGI Mouse Phenotypes related to Congenital Hypoplastic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 BRCA2 BRIP1 FAAP20 FANCA FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.9 BRCA2 BRIP1 FAAP20 FANCA FANCC FANCD2
3 neoplasm MP:0002006 9.43 BRCA2 BRIP1 FANCA FANCD2 FANCF FANCM
4 reproductive system MP:0005389 9.36 BRCA2 BRIP1 FAAP20 FANCA 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 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 2,Phase 1
4 Trace Elements Phase 4,Phase 3,Phase 2
5 Chelating Agents Phase 4,Phase 3,Phase 2
6 Iron Chelating Agents Phase 4,Phase 3,Phase 2
7 Micronutrients Phase 4,Phase 3,Phase 2
8
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
9
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 24356-66-9 32326 21704
10
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
11 Orange Approved Phase 3
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
13
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
14
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
15 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
17 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
18 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
19 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
20 Antiviral Agents Phase 2, Phase 3,Phase 3,Early Phase 1
21 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
22 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
23 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
24 Adjuvants, Immunologic Phase 2, Phase 3
25 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
26
rituximab Approved Phase 2,Phase 1,Not Applicable 174722-31-7 10201696
27
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
28
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
29
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
30
leucovorin Approved Phase 2 58-05-9 6006 143
31
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
33
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
34
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
35
Deferiprone Approved Phase 2 30652-11-0 2972
36
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 52-24-4 5453
37
Hydroxyurea Approved Phase 1, Phase 2,Phase 2 127-07-1 3657
38
Melphalan Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 148-82-3 4053 460612
39
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
40
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
41
Tacrolimus Approved, Investigational Phase 1, Phase 2,Phase 2 104987-11-3 445643 439492
42
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2 53123-88-9 46835353 6436030 5284616
43
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
44
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
45
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
46
Prednisolone hemisuccinate Experimental Phase 2,Phase 1,Not Applicable 2920-86-7
47
Treosulfan Investigational Phase 2 299-75-2 9296
48 leucine Phase 2,Phase 1
49 Antibodies, Monoclonal Phase 2
50 Antibodies Phase 2

Interventional clinical trials:

(show top 50) (show all 53)
# 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 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
4 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
5 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
6 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
7 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
8 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
9 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
10 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
11 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
12 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
13 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
14 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
15 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
16 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
17 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
18 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
19 T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease and Thalassemia Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
20 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
21 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
22 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
23 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
24 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
25 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
26 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
27 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
28 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
29 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
30 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
31 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
32 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
33 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
34 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
35 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
36 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
37 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
38 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
39 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
40 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010 Not Applicable
41 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide
42 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
43 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
44 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
45 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
46 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
47 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
48 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
49 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
50 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042 Not Applicable

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:

41
Bone, Bone Marrow, Monocytes, Spleen, Breast

Publications for Congenital Hypoplastic Anemia

Articles related to Congenital Hypoplastic Anemia:

(show all 49)
# Title Authors Year
1
Modern review of congenital hypoplastic anemia. ( 11563776 )
2001
2
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia. ( 7626383 )
1995
3
Congenital hypoplastic anemia: another example of autosomal dominant transmission. ( 8160759 )
1994
4
Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. ( 2040190 )
1991
5
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. ( 1956715 )
1991
6
Impaired ability of T4+ lymphocytes in the active stage of congenital hypoplastic anemia to promote in vitro growth of blood erythroid burst-forming units (BFU-E). ( 2904723 )
1988
7
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. ( 3127306 )
1987
8
Th activation in congenital hypoplastic anemia. ( 3296341 )
1987
9
Ultrastructural studies of spontaneous in vitro transformation of cultured marrow monocyte-macrophage cells from a patient with congenital hypoplastic anemia. ( 3971383 )
1985
10
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 6378273 )
1984
11
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. ( 6596564 )
1984
12
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. ( 6859458 )
1983
13
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. ( 6646173 )
1983
14
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 6211527 )
1982
15
Lymphocyte dysfunction in congenital hypoplastic anemia. ( 6980901 )
1982
16
Congenital hypoplastic anemia (CHA) associated with congenital absence of the spleen. ( 7149172 )
1982
17
A condition resembling congenital hypoplastic anemia occurring in a mother and son. ( 7140130 )
1982
18
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
19
T-gamma lymphocytes in a case of congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 6793456 )
1981
20
Myelofibrosis-polycythemia syndrome on congenital hypoplastic anemia: a case report. ( 6938095 )
1980
21
Bone-marrow microenvironment defect in congenital hypoplastic anemia. ( 7374678 )
1980
22
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. ( 276838 )
1978
23
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. ( 273451 )
1978
24
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. ( 747770 )
1978
25
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome. ( 747771 )
1978
26
Bone marrow transplantation in congenital hypoplastic anemia. ( 321049 )
1977
27
Erythroid colony growth in congenital hypoplastic anemia. ( 1249203 )
1976
28
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 180802 )
1976
29
Congenital hypoplastic anemia. ( 773132 )
1976
30
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. ( 131849 )
1976
31
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 786411 )
1976
32
Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia. ( 803114 )
1975
33
The significance of lymphocytosis in congenital hypoplastic anemia. ( 1057643 )
1975
34
Congenital hypoplastic anemia associated with hypogammaglobulinemia. ( 4443864 )
1974
35
The occurrence of congenital hypoplastic anemia in half brothers. ( 5042496 )
1972
36
Congenital hypoplastic anemia, report of two cases. ( 5514640 )
1970
37
Treatment of congenital hypoplastic anemia with prednisone. ( 5447959 )
1970
38
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 5414410 )
1970
39
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. ( 5388366 )
1969
40
Congenital hypoplastic anemia. Review of eight cases. ( 6037298 )
1967
41
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). ( 5938027 )
1966
42
Congenital hypoplastic anemia. Report of a case recognized in infant at 3 days of age. ( 14036472 )
1962
43
Congenital hypoplastic anemia. ( 13608755 )
1958
44
Congenital hypoplastic anemia. ( 13400593 )
1957
45
CONGENITAL hypoplastic anemia. ( 13452260 )
1957
46
DEFECT in tryptophan metabolism in congenital hypoplastic anemia. ( 13154742 )
1954
47
Congenital hypoplastic anemia. ( 13155070 )
1954
48
Congenital hypoplastic anemia associated with multiple developmental defects (Fanconi's syndrome). ( 14952013 )
1952
49
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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 BRIP1 FANCC FANCD2 FANCI RPL11 RPL35A
2
Show member pathways
13.14 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC
3
Show member pathways
12.73 RPL11 RPL35A RPL5 RPS17 RPS19
4
Show member pathways
12.69 BRCA2 BRIP1 FANCD2 FANCL RAD51
5
Show member pathways
12.53 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
6
Show member pathways
12.52 RPL11 RPL35A RPL5 RPS17 RPS19
7 12.27 BRCA2 BRIP1 FANCA FANCD2 RAD51
8
Show member pathways
12.06 BRCA2 BRIP1 RAD51 SLX4
9 12 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC
10
Show member pathways
11.92 BRCA2 BRIP1 RAD51 SLX4
11
Show member pathways
11.53 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
12 11.37 BRCA2 BRIP1 FANCD2 FANCL RAD51
13 10.69 FANCA FANCC FANCD2 FANCE FANCF FANCG

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 9.93 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC
2 ribosome GO:0005840 9.65 RPL11 RPL35A RPL5 RPS17 RPS19
3 nuclear chromosome, telomeric region GO:0000784 9.61 BRCA2 RAD51 SLX4
4 cytosolic large ribosomal subunit GO:0022625 9.5 RPL11 RPL35A RPL5
5 lateral element GO:0000800 9.37 BRCA2 RAD51
6 Fanconi anaemia nuclear complex GO:0043240 9.28 FAAP20 FAAP24 FANCA FANCC FANCE FANCF
7 cytosol GO:0005829 10.18 BRCA2 FANCC FANCD2 FANCG FANCI RAD51
8 nucleus GO:0005634 10.11 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.93 RPL11 RPL35A RPL5 RPS17 RPS19
2 rRNA processing GO:0006364 9.83 RPL11 RPL35A RPL5 RPS17 RPS19
3 DNA repair GO:0006281 9.83 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC
4 translational initiation GO:0006413 9.8 RPL11 RPL35A RPL5 RPS17 RPS19
5 DNA recombination GO:0006310 9.76 BRCA2 RAD51 SLX4
6 double-strand break repair via homologous recombination GO:0000724 9.74 BRCA2 RAD51 SLX4
7 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.72 RPL11 RPL35A RPL5 RPS17 RPS19
8 ribosomal large subunit biogenesis GO:0042273 9.67 RPL11 RPL35A RPL5
9 nucleotide-excision repair GO:0006289 9.67 BRCA2 BRIP1 FANCC SLX4
10 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.65 RPL11 RPL35A RPL5 RPS17 RPS19
11 regulation of DNA-binding transcription factor activity GO:0051090 9.63 FANCA FANCD2
12 gamete generation GO:0007276 9.63 FANCC FANCD2 FANCL
13 female gonad development GO:0008585 9.62 BRCA2 FANCA
14 neuronal stem cell population maintenance GO:0097150 9.62 FANCC FANCD2
15 brain morphogenesis GO:0048854 9.61 FANCC FANCD2
16 ribosomal small subunit biogenesis GO:0042274 9.61 RPS17 RPS19
17 resolution of meiotic recombination intermediates GO:0000712 9.6 FANCM SLX4
18 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.59 RPL11 RPL5
19 regulation of regulatory T cell differentiation GO:0045589 9.58 FANCA FANCD2
20 telomere maintenance via recombination GO:0000722 9.56 BRCA2 RAD51
21 negative regulation of ubiquitin protein ligase activity GO:1904667 9.55 RPL11 RPL5
22 negative regulation of protein neddylation GO:2000435 9.52 RPL11 RPL5
23 regulation of CD40 signaling pathway GO:2000348 9.51 FANCA FANCD2
24 mitotic recombination-dependent replication fork processing GO:1990426 9.48 BRCA2 RAD51
25 interstrand cross-link repair GO:0036297 9.44 FAAP20 FAAP24 FANCA FANCC FANCD2 FANCE
26 cellular response to DNA damage stimulus GO:0006974 10.03 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC

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 9.35 RPL11 RPL35A RPL5 RPS17 RPS19
2 5S rRNA binding GO:0008097 9.32 RPL11 RPL5
3 ubiquitin ligase inhibitor activity GO:1990948 9.26 RPL11 RPL5
4 DNA polymerase binding GO:0070182 8.8 FANCD2 FANCI RAD51
5 protein binding GO:0005515 10.11 BRCA2 BRIP1 FAAP20 FAAP24 FANCA FANCC

Sources for Congenital Hypoplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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