MCID: CNG028
MIFTS: 50

Congenital Hypoplastic Anemia

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Congenital Hypoplastic Anemia

MalaCards integrated aliases for Congenital Hypoplastic Anemia:

Name: Congenital Hypoplastic Anemia 12 14 69
Anemia, Hypoplastic, Congenital 72 41
Congenital Aplastic Anemia 12 49
Constitutional Aplastic Anaemia 12
Constitutional Aplastic Anemia 69
Anemia, Diamond-Blackfan 69
Fanconi Anemia 69

Classifications:



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 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 marrow, bone and liver, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Wikipedia : 72 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 29)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 32.0 EPO RPL11 RPL5 RPS17 RPS19
2 diamond-blackfan anemia 1 31.8 RPL5 RPS19
3 transient erythroblastopenia of childhood 29.6 EPO RPS19
4 fanconi anemia, complementation group a 27.1 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
5 maternal uniparental disomy of chromosome 16 10.2 FANCA SLX4
6 aplastic anemia 10.0
7 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
8 leukemia 9.9
9 deficiency anemia 9.9 EPO FANCA FANCC FANCD2 RPS19
10 shwachman-diamond syndrome 9.8
11 hepatocellular carcinoma 9.8
12 histidinemia 9.8
13 myelofibrosis 9.8
14 aging 9.8
15 acute promyelocytic leukemia 9.8
16 b-cell expansion with nfkb and t-cell anergy 9.8
17 fanconi syndrome 9.8
18 polycythemia 9.8
19 refractory anemia 9.8
20 squamous cell carcinoma, head and neck 9.6 FANCA FANCC FANCE FANCF FANCL
21 fanconi anemia, complementation group d2 9.6 BRCA2 FANCD2 RAD51
22 fanconi anemia, complementation group e 9.6 FANCA FANCC FANCD2 FANCE FANCF FANCG
23 pierre robin syndrome 9.5 RPL11 RPL5 RPS17 RPS19
24 fanconi anemia, complementation group f 9.5 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
25 macrocytic anemia 9.5 RPL11 RPL5 RPS17 RPS19
26 hereditary breast ovarian cancer syndrome 9.5 BRCA2 BRIP1 RAD51
27 sporadic breast cancer 9.5 BRCA2 FANCD2 RAD51
28 fanconi anemia, complementation group b 9.3 FANCA FANCC FANCD2 FANCE FANCF FANCG
29 tracheoesophageal fistula 8.1 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCE

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:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.63 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.63 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.63 RPL11 RPL5 RAD51 FANCA FANCI BRCA2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.63 RPL11 RPL5 RAD51 FANCA FANCI BRCA2
5 Decreased homologous recombination repair frequency GR00236-A-3 10.63 RAD51 BRCA2 FANCA
6 Increased viability GR00386-A-1 10 BRIP1 EPO FAAP24 FANCI FANCM RAD51
7 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.97 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
8 Decreased cell number GR00303-A 9.83 RAD51 RPL11 RPL5 RPS19 SLX4
9 Decreased viability GR00106-A-0 9.77 RAD51 RPL5 RPS17 RPS19
10 Decreased viability GR00381-A-1 9.77 RPS19
11 Decreased viability with cisplatin GR00101-A-4 9.5 BRCA2 BRIP1 RAD51
12 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.13 RPL11 RPL5 RPS17
13 Synthetic lethal with cisplatin GR00101-A-1 8.8 BRCA2 BRIP1 RAD51

MGI Mouse Phenotypes related to Congenital Hypoplastic Anemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 BRCA2 BRIP1 EPO FANCA FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.85 FANCD2 FANCF FANCG FANCL FANCM SLX4
3 neoplasm MP:0002006 9.43 BRCA2 BRIP1 FANCA FANCD2 FANCF FANCM
4 reproductive system MP:0005389 9.32 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCF

Drugs & Therapeutics for Congenital Hypoplastic Anemia

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

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2 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 Chelating Agents Phase 4,Phase 3,Phase 2
5 Iron Chelating Agents Phase 4,Phase 3,Phase 2
6 Micronutrients Phase 4,Phase 3,Phase 2
7 Trace Elements Phase 4,Phase 3,Phase 2
8
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
9
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved, Investigational Phase 2, Phase 3, Early Phase 1 24356-66-9 21704 32326
11
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
13
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
14 Orange Approved, Nutraceutical Phase 3
15 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
16 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
17 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
18 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
19 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
20 Antiviral Agents Phase 2, Phase 3, Early Phase 1
21 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
22 Adjuvants, Immunologic Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
24
rituximab Approved Phase 2 174722-31-7 10201696
25
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
26
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
27
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
28
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
30
Deferiprone Approved Phase 2 30652-11-0 2972
31
Melphalan Approved Phase 1, Phase 2, Early Phase 1 148-82-3 460612 4053
32 Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
33
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
34
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
36
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
37
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
38
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
39
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
40
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
41
Daclizumab Approved, Investigational Phase 2 152923-56-3
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
43
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
44
Treosulfan Investigational Phase 2 299-75-2 9296
45 Antibodies Phase 2
46 Antibodies, Monoclonal Phase 2
47 Immunoglobulins Phase 2
48 Antifungal Agents Phase 2
49 Calcineurin Inhibitors Phase 2,Phase 1
50 Cyclosporins Phase 2,Phase 1

Interventional clinical trials:

(show all 48)

# 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 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
13 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
14 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 Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
15 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
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 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
18 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
19 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
20 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
21 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
22 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
23 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
24 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
25 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Suspended NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
26 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
27 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Terminated NCT00957931 Phase 2
28 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
29 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
30 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
31 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
32 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
33 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
34 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
35 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
36 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
37 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
38 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
39 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
40 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
41 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
42 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
43 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
44 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
45 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
46 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
47 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil
48 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

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:

38
Bone Marrow, Bone, Liver, Kidney, T Cells, Heart, Myeloid

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
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. ( 1956715 )
1991
5
Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. ( 2040190 )
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
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. ( 6596564 )
1984
11
Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 6378273 )
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
A condition resembling congenital hypoplastic anemia occurring in a mother and son. ( 7140130 )
1982
15
Lymphocyte dysfunction in congenital hypoplastic anemia. ( 6980901 )
1982
16
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 6211527 )
1982
17
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
18
Congenital hypoplastic anemia (CHA) associated with congenital absence of the spleen. ( 7149172 )
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
Congenital hypoplastic anemia. ( 773132 )
1976
28
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 180802 )
1976
29
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 786411 )
1976
30
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. ( 131849 )
1976
31
Erythroid colony growth in congenital hypoplastic anemia. ( 1249203 )
1976
32
The significance of lymphocytosis in congenital hypoplastic anemia. ( 1057643 )
1975
33
Congenital hypoplastic anemia inhibition of erythropoiesis by sera from patients with congenital hypoplastic anemia. ( 803114 )
1975
34
Congenital hypoplastic anemia associated with hypogammaglobulinemia. ( 4443864 )
1974
35
The occurrence of congenital hypoplastic anemia in half brothers. ( 5042496 )
1972
36
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 5414410 )
1970
37
Congenital hypoplastic anemia, report of two cases. ( 5514640 )
1970
38
Treatment of congenital hypoplastic anemia with prednisone. ( 5447959 )
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
2
Show member pathways
12.63 BRCA2 BRIP1 FANCD2 FANCL RAD51
3
Show member pathways
12.53 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
4 12.24 BRCA2 BRIP1 FANCA FANCD2 RAD51
5
Show member pathways
12.03 BRCA2 BRIP1 RAD51 SLX4
6 11.98 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
7
Show member pathways
11.89 BRCA2 BRIP1 RAD51 SLX4
8
Show member pathways
11.53 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
9 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 9.91 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
2 nucleolus GO:0005730 9.8 FANCD2 FANCG RAD51 RPL11 RPL5 RPS19
3 intracellular ribonucleoprotein complex GO:0030529 9.73 RPL11 RPL5 RPS17 RPS19
4 nuclear chromosome, telomeric region GO:0000784 9.58 BRCA2 RAD51 SLX4
5 ribosome GO:0005840 9.56 RPL11 RPL5 RPS17 RPS19
6 lateral element GO:0000800 9.37 BRCA2 RAD51
7 Fanconi anaemia nuclear complex GO:0043240 9.23 FAAP24 FANCA FANCC FANCE FANCF FANCG
8 nucleus GO:0005634 10.09 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.92 RPL11 RPL5 RPS17 RPS19
2 rRNA processing GO:0006364 9.87 RPL11 RPL5 RPS17 RPS19
3 translational initiation GO:0006413 9.83 RPL11 RPL5 RPS17 RPS19
4 regulation of signal transduction by p53 class mediator GO:1901796 9.82 BRIP1 RPL11 RPL5
5 cellular response to DNA damage stimulus GO:0006974 9.8 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
6 DNA recombination GO:0006310 9.78 BRCA2 RAD51 SLX4
7 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.76 RPL11 RPL5 RPS17 RPS19
8 double-strand break repair via homologous recombination GO:0000724 9.75 BRCA2 RAD51 SLX4
9 viral transcription GO:0019083 9.73 RPL11 RPL5 RPS17 RPS19
10 nucleotide-excision repair GO:0006289 9.71 BRCA2 FANCC SLX4
11 DNA synthesis involved in DNA repair GO:0000731 9.69 BRCA2 BRIP1 RAD51
12 female gonad development GO:0008585 9.65 BRCA2 FANCA
13 ribosomal large subunit assembly GO:0000027 9.65 RPL11 RPL5
14 response to X-ray GO:0010165 9.64 BRCA2 RAD51
15 neuronal stem cell population maintenance GO:0097150 9.63 FANCC FANCD2
16 ribosomal small subunit biogenesis GO:0042274 9.63 RPS17 RPS19
17 brain morphogenesis GO:0048854 9.62 FANCC FANCD2
18 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.62 RPL11 RPL5 RPS17 RPS19
19 ribosomal small subunit assembly GO:0000028 9.61 RPS17 RPS19
20 resolution of meiotic recombination intermediates GO:0000712 9.6 FANCM SLX4
21 regulation of regulatory T cell differentiation GO:0045589 9.59 FANCA FANCD2
22 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.58 RPL11 RPL5
23 strand displacement GO:0000732 9.58 BRCA2 BRIP1 RAD51
24 telomere maintenance via recombination GO:0000722 9.56 BRCA2 RAD51
25 negative regulation of ubiquitin protein ligase activity GO:1904667 9.55 RPL11 RPL5
26 negative regulation of protein neddylation GO:2000435 9.49 RPL11 RPL5
27 regulation of CD40 signaling pathway GO:2000348 9.48 FANCA FANCD2
28 gamete generation GO:0007276 9.43 FANCC FANCD2 FANCL
29 interstrand cross-link repair GO:0036297 9.4 FAAP24 FANCA FANCC FANCD2 FANCE FANCF
30 mitotic recombination-dependent replication fork processing GO:1990426 9.37 BRCA2 RAD51
31 DNA repair GO:0006281 10 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2

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

# Name GO ID Score Top Affiliating Genes
1 endodeoxyribonuclease activity GO:0004520 9.37 RAD51 SLX4
2 5S rRNA binding GO:0008097 9.32 RPL11 RPL5
3 ubiquitin ligase inhibitor activity GO:1990948 9.26 RPL11 RPL5
4 structural constituent of ribosome GO:0003735 9.26 RPL11 RPL5 RPS17 RPS19
5 DNA polymerase binding GO:0070182 8.8 FANCD2 FANCI RAD51
6 protein binding GO:0005515 10.09 BRCA2 BRIP1 EPO FAAP24 FANCA FANCC

Sources for Congenital Hypoplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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