MCID: CNG028
MIFTS: 48

Congenital Hypoplastic Anemia malady

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Congenital Hypoplastic Anemia

Aliases & Descriptions for Congenital Hypoplastic Anemia:

Name: Congenital Hypoplastic Anemia 12 14 69
Congenital Aplastic Anemia 12 50
Constitutional Aplastic Anaemia 12
Anemia, Hypoplastic, Congenital 42
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 congenital aplastic anemia, 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 cellular

Wikipedia : 71 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 34)
id Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 11.9
2 diamond-blackfan anemia 1 10.9
3 rps19-related diamond-blackfan anemia 10.9
4 fanconi anemia, complementation group a 10.8
5 maternal uniparental disomy of chromosome 13 10.2 FANCA SLX4
6 tricho odonto onychodysplasia syndactyly dominant type 10.1 FANCI FANCL
7 cloacal exstrophy 10.1 FANCI FANCL FANCM
8 dyslexia 1 10.1 FANCA FANCC FANCD2 FANCG
9 blood coagulation disease 10.1 FANCA FANCC FANCG
10 deafness, autosomal recessive 32 10.1 RPL5 RPS19
11 bronchogenic cyst 10.1 BRCA2 BRIP1
12 bronchiectasis oligospermia 10.0 BRCA2 BRIP1
13 hypogonadotropic hypogonadism 20 with or without anosmia 10.0 FANCA FANCE FANCF FANCL
14 aplastic anemia 9.9
15 follicular lymphoma 1 9.9 FANCA FANCC FANCD2 FANCE FANCF FANCG
16 epilepsy, progressive myoclonic 7 9.9 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
17 larynx liposarcoma 9.9 BRCA2 BRIP1 RAD51
18 leukemia 9.9
19 episodic muscle weakness, x-linked 9.8 FANCA FANCC FANCD2 FANCE FANCF FANCG
20 familial glucocorticoid deficiency 9.7 BRCA2 BRIP1 FANCD2 RAD51 SLX4
21 shwachman-diamond syndrome 9.7
22 transient erythroblastopenia of childhood 9.7
23 hemochromatosis 9.7
24 histidinemia 9.7
25 myelofibrosis 9.7
26 fanconi syndrome 9.7
27 polycythemia 9.7
28 refractory anemia 9.7
29 hepatocellular carcinoma 9.7
30 delayed sleep phase syndrome 9.7 RPL11 RPL35A RPL5 RPS17 RPS19
31 west nile fever 9.7 RPL11 RPL35A RPL5 RPS17 RPS19
32 drug-induced hepatitis 9.7 RPL11 RPL35A RPL5 RPS17 RPS19
33 lymphedema-distichiasis syndrome 8.6 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
34 glanders 7.8 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.71 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.71 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.71 RAD51 RPL11 RPL5 FANCA FANCI BRCA2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.71 RPL11 RPL5 FANCA FANCI RAD51 BRCA2
5 Decreased homologous recombination repair frequency GR00236-A-3 10.71 RAD51 FANCA BRCA2
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.13 FANCE FANCF FANCG FANCI FANCL FANCM
7 Increased viability GR00386-A-1 10.11 RPL35A RPL5 RPS17 RPS19 SLX4 BRIP1
8 Increased G1 DNA content GR00098-A-1 10.01 FANCC FANCF RPL11 RPL35A RPL5 RPS17
9 Decreased cell number GR00303-A 9.89 RAD51 RPL11 RPL5 RPS19 SLX4
10 Decreased viability GR00106-A-0 9.85 RAD51 RPL5 RPS17 RPS19
11 Decreased viability GR00381-A-1 9.85 RPS19
12 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.73 BRCA2 RAD51 RPL11 RPL35A RPS17 RPS19
13 Decreased viability with cisplatin GR00101-A-4 9.61 BRCA2 BRIP1 RAD51
14 Nuclear 60S biogenesis defects GR00209-A-3 9.33 RPL11 RPL35A RPL5
15 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.26 RPL11 RPL35A RPL5 RPS17
16 Synthetic lethal with cisplatin GR00101-A-1 8.8 BRCA2 BRIP1 RAD51

MGI Mouse Phenotypes related to Congenital Hypoplastic Anemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCG
2 endocrine/exocrine gland MP:0005379 9.61 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCG
3 reproductive system MP:0005389 9.28 FANCL FANCM SLX4 BRCA2 BRIP1 FANCA

Drugs & Therapeutics for Congenital Hypoplastic Anemia

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

(show top 50) (show all 130)
id 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
alemtuzumab Approved, Investigational Phase 2, Phase 3, Phase 1 216503-57-0
9
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 50-18-0, 6055-19-2 2907
11
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
12
Vidarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 24356-66-9 32326 21704
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-24-8 5755
15
Lenograstim Approved Phase 2, Phase 3,Phase 1 135968-09-1
16
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2 60-23-1 6058
17
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
18
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
20
Everolimus Approved Phase 2, Phase 3,Phase 1 159351-69-6 6442177
21
Sirolimus Approved, Investigational Phase 2, Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
22 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
23 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
24 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
25 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
26 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1, Early Phase 1
27 Antirheumatic Agents Phase 2, Phase 3, Phase 1, Early Phase 1
28 Antiviral Agents Phase 2, Phase 3, Phase 1, Early Phase 1
29 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
30 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
31 Antiemetics Phase 2, Phase 3,Phase 1
32 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
33 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
34 Autonomic Agents Phase 2, Phase 3,Phase 1
35 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
36 glucocorticoids Phase 2, Phase 3,Phase 1
37 Hormone Antagonists Phase 2, Phase 3,Phase 1
38 Hormones Phase 2, Phase 3,Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
40 Methylprednisolone acetate Phase 2, Phase 3,Phase 1
41 Methylprednisolone Hemisuccinate Phase 2, Phase 3,Phase 1
42 Neuroprotective Agents Phase 2, Phase 3,Phase 1
43 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 1
44 Prednisolone acetate Phase 2, Phase 3,Phase 1
45 Prednisolone hemisuccinate Phase 2, Phase 3,Phase 1
46 Prednisolone phosphate Phase 2, Phase 3,Phase 1
47 Protective Agents Phase 2, Phase 3,Phase 1
48 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
49 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
50 Antifungal Agents Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 128)
id Name Status NCT ID Phase
1 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4
2 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
3 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
4 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
5 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3
6 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
7 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3
8 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3
9 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3
10 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3
11 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
12 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2
13 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2
14 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2
15 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2
16 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
17 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2
18 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2
19 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
20 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2
21 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
22 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2
23 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
24 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
25 Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants Completed NCT00307086 Phase 2
26 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2
27 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
28 Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2
29 Traditional Chinese Medicine in the Supportive Management of Anaemic and Cytopenic (Leukopenia, Thrombocytopenia) Haematological Disorders Completed NCT01224496 Phase 1, Phase 2
30 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357 Phase 2
31 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Completed NCT00777231 Phase 1, Phase 2
32 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
33 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
34 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2
35 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2
36 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2
37 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 Recruiting NCT02931071 Phase 2
38 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2
39 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2
40 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2
41 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2
42 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2
43 Talazoparib Beyond BRCA (TBB) Trial Recruiting NCT02401347 Phase 2
44 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Recruiting NCT01049854 Phase 2
45 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2
46 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2
47 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
48 Nonmyeloablative Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Sickle Cell Disease and Beta-thalassemia in People With Higher Risk of Transplant Failure Recruiting NCT02105766 Phase 1, Phase 2
49 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
50 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2

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:

39
Bone, Bone Marrow, Monocytes, Spleen

Publications for Congenital Hypoplastic Anemia

Articles related to Congenital Hypoplastic Anemia:

(show all 49)
id 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
Th activation in congenital hypoplastic anemia. ( 3296341 )
1987
8
In vitro spontaneous malignant transformation in monocytic cell lines from patients with congenital hypoplastic anemia. ( 3127306 )
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
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. ( 6646173 )
1983
13
Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings. ( 6859458 )
1983
14
A condition resembling congenital hypoplastic anemia occurring in a mother and son. ( 7140130 )
1982
15
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 6211527 )
1982
16
Lymphocyte dysfunction in congenital hypoplastic anemia. ( 6980901 )
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: Diamond-Blackfan syndrome. Comments and additional data on clinical aspects of Diamond-Blackfan syndrome. ( 747771 )
1978
23
Congenital hypoplastic anemia terminating in acute promyelocytic leukemia. ( 276838 )
1978
24
Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects. ( 747770 )
1978
25
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. ( 273451 )
1978
26
Bone marrow transplantation in congenital hypoplastic anemia. ( 321049 )
1977
27
Congenital hypoplastic anemia. ( 773132 )
1976
28
Differentiation of transient erythroblastopenia of childhood from congenital hypoplastic anemia. ( 131849 )
1976
29
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). ( 786411 )
1976
30
Erythroid colony growth in congenital hypoplastic anemia. ( 1249203 )
1976
31
Hepatocellular carcinoma, transfusion-induced hemochromatosis and congenital hypoplastic anemia (Blackfan-Diamond syndrome). ( 180802 )
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:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 BRIP1 FANCC FANCD2 FANCI RPL11 RPL35A
2
Show member pathways
13.11 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
3
Show member pathways
12.71 RPL11 RPL35A RPL5 RPS17 RPS19
4
Show member pathways
12.67 BRCA2 BRIP1 FANCD2 FANCL RAD51
5
Show member pathways
12.53 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
6
Show member pathways
12.48 RPL11 RPL35A RPL5 RPS17 RPS19
7 12.22 BRCA2 BRIP1 FANCA RAD51
8
Show member pathways
12 BRCA2 BRIP1 RAD51 SLX4
9 11.98 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
10
Show member pathways
11.85 BRCA2 BRIP1 RAD51 SLX4
11
Show member pathways
11.53 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
12 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:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.89 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
2 nucleolus GO:0005730 9.88 FANCD2 FANCG RAD51 RPL11 RPL5 RPS19
3 extracellular matrix GO:0031012 9.78 RPL11 RPL35A RPS17 RPS19
4 intracellular ribonucleoprotein complex GO:0030529 9.72 RPL11 RPL35A RPL5 RPS17 RPS19
5 nuclear chromosome, telomeric region GO:0000784 9.67 BRCA2 RAD51 SLX4
6 ribosome GO:0005840 9.65 RPL11 RPL35A RPL5 RPS17 RPS19
7 cytosolic large ribosomal subunit GO:0022625 9.54 RPL11 RPL35A RPL5
8 lateral element GO:0000800 9.43 BRCA2 RAD51
9 Fanconi anaemia nuclear complex GO:0043240 9.23 FAAP24 FANCA FANCC FANCE FANCF FANCG
10 cytosol GO:0005829 10.23 BRCA2 FANCC FANCD2 FANCG FANCI RAD51
11 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 30)
id Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.95 RPL11 RPL35A RPL5 RPS17 RPS19
2 rRNA processing GO:0006364 9.83 RPL11 RPL35A RPL5 RPS17 RPS19
3 translational initiation GO:0006413 9.8 RPL11 RPL35A RPL5 RPS17 RPS19
4 DNA repair GO:0006281 9.8 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2
5 DNA recombination GO:0006310 9.79 BRCA2 RAD51 SLX4
6 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.77 RPL11 RPL35A RPL5 RPS17 RPS19
7 double-strand break repair via homologous recombination GO:0000724 9.76 BRCA2 RAD51 SLX4
8 nucleotide-excision repair GO:0006289 9.73 BRCA2 FANCC SLX4
9 viral transcription GO:0019083 9.72 RPL11 RPL35A RPL5 RPS17 RPS19
10 DNA synthesis involved in DNA repair GO:0000731 9.71 BRCA2 BRIP1 RAD51
11 strand displacement GO:0000732 9.69 BRCA2 BRIP1 RAD51
12 female gonad development GO:0008585 9.65 BRCA2 FANCA
13 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.65 RPL11 RPL35A RPL5 RPS17 RPS19
14 response to X-ray GO:0010165 9.64 BRCA2 RAD51
15 neuronal stem cell population maintenance GO:0097150 9.64 FANCC FANCD2
16 gamete generation GO:0007276 9.63 FANCD2 FANCL
17 brain morphogenesis GO:0048854 9.63 FANCC FANCD2
18 ribosomal large subunit biogenesis GO:0042273 9.63 RPL11 RPL35A RPL5
19 ribosomal small subunit biogenesis GO:0042274 9.62 RPS17 RPS19
20 ribosomal large subunit assembly GO:0000027 9.62 RPL11 RPL5
21 ribosomal small subunit assembly GO:0000028 9.61 RPS17 RPS19
22 resolution of meiotic recombination intermediates GO:0000712 9.6 FANCM SLX4
23 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.59 RPL11 RPL5
24 negative regulation of ubiquitin protein ligase activity GO:1904667 9.58 RPL11 RPL5
25 regulation of regulatory T cell differentiation GO:0045589 9.57 FANCA FANCD2
26 regulation of CD40 signaling pathway GO:2000348 9.52 FANCA FANCD2
27 mitotic recombination-dependent replication fork processing GO:1990426 9.49 BRCA2 RAD51
28 negative regulation of protein neddylation GO:2000435 9.48 RPL11 RPL5
29 interstrand cross-link repair GO:0036297 9.4 FAAP24 FANCA FANCC FANCD2 FANCE FANCF
30 cellular response to DNA damage stimulus GO:0006974 10 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2

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

id 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 9.16 RPL11 RPL5
4 DNA polymerase binding GO:0070182 9.13 FANCD2 FANCI RAD51
5 structural constituent of ribosome GO:0003735 9.02 RPL11 RPL35A RPL5 RPS17 RPS19
6 protein binding GO:0005515 10.19 BRCA2 BRIP1 FAAP24 FANCA FANCC FANCD2

Sources for Congenital Hypoplastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....