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CAMT
MCID: AMG001
MIFTS: 59

Amegakaryocytic Thrombocytopenia, Congenital (CAMT)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Amegakaryocytic Thrombocytopenia, Congenital

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MalaCards integrated aliases for Amegakaryocytic Thrombocytopenia, Congenital:

Name: Amegakaryocytic Thrombocytopenia, Congenital 57 53 36
Congenital Amegakaryocytic Thrombocytopenia 11 19 58 73 28 5 43 14 71 75
Camt 57 11 19 58 73
Thrombocytopenia, Congenital Amegakaryocytic 57 12
Congenital Amegakaryocytic Thrombocytopenic Purpura 11
Thrombocytopenia, Amegakaryocytic, Congenital 38
Thrombocytopenia Congenital Amegakaryocytic 19

Characteristics:


Inheritance:

Amegakaryocytic Thrombocytopenia, Congenital: Autosomal recessive 57
Congenital Amegakaryocytic Thrombocytopenia: Autosomal recessive 58

Prevelance:

Congenital Amegakaryocytic Thrombocytopenia: 1-9/1000000 (United Kingdom) 58

Age Of Onset:

Congenital Amegakaryocytic Thrombocytopenia: Neonatal 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0090118
OMIM® 57 604498
MeSH 43 C535982
NCIt 49 C115207
SNOMED-CT 68 716336002
MESH via Orphanet 44 C535982
ICD10 via Orphanet 32 D61.0
UMLS via Orphanet 72 C1327915
Orphanet 58 ORPHA3319
MedGen 40 C1327915
UMLS 71 C1327915
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Summaries for Amegakaryocytic Thrombocytopenia, Congenital

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OMIM®: 57 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later. (604498) (Updated 08-Dec-2022)

MalaCards based summary: Amegakaryocytic Thrombocytopenia, Congenital, also known as congenital amegakaryocytic thrombocytopenia, is related to thrombocytopenic purpura, autoimmune and thrombocytopenia due to platelet alloimmunization. An important gene associated with Amegakaryocytic Thrombocytopenia, Congenital is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. The drugs Alemtuzumab and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are abnormal hemoglobin and thrombocytopenia

Disease Ontology: 11 A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34.

GARD: 19 An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

Orphanet: 58 An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

UniProtKB/Swiss-Prot: 73 Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.

Wikipedia: 75 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited... more...
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Related Diseases for Amegakaryocytic Thrombocytopenia, Congenital

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Diseases in the Acquired Amegakaryocytic Thrombocytopenia family:

Amegakaryocytic Thrombocytopenia, Congenital

Diseases related to Amegakaryocytic Thrombocytopenia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenic purpura, autoimmune 30.6 THPO MPL ITGA2B
2 thrombocytopenia due to platelet alloimmunization 30.6 THPO MPL ITGA2B ANKRD26
3 qualitative platelet defect 30.5 THPO ITGA2B ANKRD26
4 pancytopenia 30.4 THPO MPL MECOM IL3 CD34
5 thrombocytosis 30.3 THPO MPL JAK2 IL3
6 thrombocytopenia-absent radius syndrome 30.3 THPO RBM8A NBEAL2 MPL ANKRD26
7 purpura 30.2 THPO MPL ITGA2B
8 fanconi anemia, complementation group a 30.1 THPO SBDS RPS19 LUC7L2 IL3 CD34
9 hematologic cancer 30.0 THPO MPL MECOM LUC7L2 JAK2 IL3
10 leukemia, acute lymphoblastic 29.9 THPO MPL JAK2 IL3 GATA1 CD34
11 radioulnar synostosis 29.9 RBM8A NBEAL2 MPL MECOM HOXA11 GFI1B
12 essential thrombocythemia 29.8 THPO MPL LUC7L2 JAK2 ITGA2B IL3
13 aplastic anemia 29.8 THPO SBDS RPS19 MPL LUC7L2 IL3
14 myelofibrosis 29.7 THPO MPL JAK2 IL3 GATA1 CD34
15 myeloproliferative neoplasm 29.6 THPO MPL LUC7L2 JAK2 IL3 GATA1
16 dyskeratosis congenita 29.6 SBDS RPS19 MPL MECOM LUC7L2 GATA1
17 deficiency anemia 29.3 THPO RPS19 MPL LUC7L2 JAK2 IL3
18 blood platelet disease 29.1 THPO NBEAL2 MYH9 MPL LUC7L2 JAK2
19 thrombocytopenia 28.6 TUBB1 THPO SLFN14 SBDS RBM8A NBEAL2
20 dyskeratosis congenita, autosomal dominant 6 10.3 THPO MPL
21 graft-versus-host disease 10.3
22 thrombocythemia 1 10.3 THPO MPL
23 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 10.3 MECOM HOXA11
24 thrombocytopenia 2 10.3 MECOM ANKRD26
25 bernard-soulier syndrome, type a2, autosomal dominant 10.3 TUBB1 GFI1B
26 ankrd26-related thrombocytopenia 10.3 MYH9 ANKRD26
27 pseudo-von willebrand disease 10.3 NBEAL2 GATA1 ANKRD26
28 splenic sequestration 10.3 THPO MPL ITGA2B
29 bleeding disorder, platelet-type, 17 10.3 NBEAL2 GFI1B
30 primary thrombocytopenia 10.2 THPO MPL ITGA2B
31 childhood acute megakaryoblastic leukemia 10.2 ITGA2B GATA1
32 autoimmune disease of blood 10.2 THPO MPL ITGA2B
33 immunodeficiency 21 10.2 LUC7L2 GATA1 ANKRD26
34 chronic eosinophilic leukemia 10.2 MPL JAK2 IL3
35 portal vein thrombosis 10.2 THPO MPL JAK2
36 thrombocytopenia 1 10.2 THPO HOXA11 GATA1
37 autosomal dominant macrothrombocytopenia 10.2 TUBB1 ITGA2B GFI1B
38 synostosis 10.2
39 acute graft versus host disease 10.2
40 chronic graft versus host disease 10.2
41 neutrophilia, hereditary 10.2 LUC7L2 JAK2 IL3
42 splenomegaly 10.2 SBDS MPL JAK2
43 bleeding disorder, platelet-type, 18 10.2 SLFN14 NBEAL2 ITGA2B
44 acquired polycythemia 10.2 MPL JAK2
45 thrombocytopenia with beta-thalassemia, x-linked 10.2 NBEAL2 GATA1
46 evans' syndrome 10.2 THPO MPL
47 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.2 IL3 CD34
48 diamond-blackfan anemia 11 10.2 GATA1 ANKRD26
49 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2 RPS19 GATA1
50 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.2 TUBB1 MYH9

Graphical network of the top 20 diseases related to Amegakaryocytic Thrombocytopenia, Congenital:



Diseases related to Amegakaryocytic Thrombocytopenia, Congenital
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Symptoms & Phenotypes for Amegakaryocytic Thrombocytopenia, Congenital

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Human phenotypes related to Amegakaryocytic Thrombocytopenia, Congenital:

58 30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal hemoglobin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011902
2 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001873
3 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002650
4 short neck 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000470
5 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000280
6 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
7 anemia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001903
8 abnormal form of the vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003312
9 melanocytic nevus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000995
10 abnormal cardiac septum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001671
11 decreased skull ossification 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004331
12 cerebellar vermis hypoplasia 30 HP:0001320
13 pancytopenia 30 HP:0001876
14 amegakaryocytic thrombocytopenia 30 HP:0004859
15 megakaryocytopenia 30 HP:0005548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
megakaryocytopenia
severe thrombocytopenia (birth)
pancytopenia (childhood)
elevated serum thrombopoietin (tpo)

Skeletal Limbs:
normal radii

Neurologic Central Nervous System:
hypoplastic cerebellar vermis

Clinical features from OMIM®:

604498 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Amegakaryocytic Thrombocytopenia, Congenital:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 ANKRD26 CD34 GATA1 GFI1B IL3 ITGA2B
2 cellular MP:0005384 10.1 CD34 GATA1 GFI1B HOXA11 IL3 ITGA2B
3 embryo MP:0005380 9.97 GATA1 GFI1B ITGA2B JAK2 MECOM MPL
4 immune system MP:0005387 9.97 CD34 GATA1 GFI1B IL3 ITGA2B JAK2
5 skeleton MP:0005390 9.61 GATA1 HOXA11 IL3 ITGA2B JAK2 MECOM
6 hematopoietic system MP:0005397 9.53 CD34 GATA1 GFI1B IL3 ITGA2B JAK2
Sources

Drugs & Therapeutics for Amegakaryocytic Thrombocytopenia, Congenital

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Drugs for Amegakaryocytic Thrombocytopenia, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
3
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
4
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
5
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
9
Melphalan Approved Phase 2 148-82-3 4053 460612
10
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
11
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
12
Busulfan Approved, Investigational Phase 2 55-98-1 2478
13
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
14
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
15
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
16
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
17
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
22 Anti-Infective Agents Phase 2
23 Neuroprotective Agents Phase 2
24 Hormones Phase 2
25 Cyclosporins Phase 2
26 Hormone Antagonists Phase 2
27 Antifungal Agents Phase 2
28 Antiemetics Phase 2
29 Anti-Inflammatory Agents Phase 2
30 glucocorticoids Phase 2
31
Methylprednisolone Acetate Phase 2 584547
32 Gastrointestinal Agents Phase 2
33 Antineoplastic Agents, Immunological Phase 2
34 Protective Agents Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antitubercular Agents Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Antilymphocyte Serum Phase 2
39 Folic Acid Antagonists Phase 2
40 Folate Phase 2
41 Vitamin B9 Phase 2
42 Calcineurin Inhibitors Phase 2
43 Vitamin B Complex Phase 2
44 Dermatologic Agents Phase 2
45 Immunoglobulins, Intravenous Phase 2
46 Immunoglobulins Phase 2
47 Thymoglobulin Phase 2
48 Antibodies Phase 2
49 gamma-Globulins Phase 2
50 Rho(D) Immune Globulin Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
2 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
3 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
4 Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for the Treatment of Bone Marrow Failure Diseases Recruiting NCT04965597 Phase 2 Treosulfan;Fludarabine Phosphate;Tacrolimus;Methotrexate
5 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Active, not recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
6 Stem Cell Enriched, T Cell Depleted Haplocompatible Peripheral Blood Transplantation for Children With Myelodysplastic Disease, Leukemia, Marrow Failure Syndromes, or Severe Immunodeficiency Diseases Completed NCT00295971 Phase 1 fludarabine phosphate;thiotepa

Search NIH Clinical Center for Amegakaryocytic Thrombocytopenia, Congenital

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Amegakaryocytic Thrombocytopenia, Congenital cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Amegakaryocytic Thrombocytopenia, Congenital:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Amegakaryocytic Thrombocytopenia, Congenital:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

Cochrane evidence based reviews: congenital amegakaryocytic thrombocytopenia

Sources

Genetic Tests for Amegakaryocytic Thrombocytopenia, Congenital

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Genetic tests related to Amegakaryocytic Thrombocytopenia, Congenital:

# Genetic test Affiliating Genes
1 Congenital Amegakaryocytic Thrombocytopenia 28 MPL
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Anatomical Context for Amegakaryocytic Thrombocytopenia, Congenital

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Organs/tissues related to Amegakaryocytic Thrombocytopenia, Congenital:

MalaCards : Bone Marrow, Bone, Myeloid, T Cells, Colon, Endothelial, Brain
ODiseA: Blood And Bone Marrow
Sources

Publications for Amegakaryocytic Thrombocytopenia, Congenital

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Articles related to Amegakaryocytic Thrombocytopenia, Congenital:

(show top 50) (show all 174)
# Title Authors PMID Year
1
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 53 62 57 5
11133753 2001
2
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. 53 62 57 5
10077649 1999
3
Thrombocytopenia in c-mpl-deficient mice. 57 5
8073287 1994
4
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. 53 62 5
20188141 2010
5
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. 53 62 5
19388932 2009
6
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 53 62 5
19302922 2009
7
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 53 62 5
17666371 2007
8
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). 53 62 5
11071383 2000
9
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 53 62 5
10971406 2000
10
Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. 53 62 57
9029014 1997
11
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients. 62 5
32703794 2021
12
A novel frameshift mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. 62 5
29384262 2018
13
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 62 5
28859041 2018
14
Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians. 62 5
28697167 2017
15
Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies. 62 5
26854587 2016
16
Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene. 62 5
26316487 2015
17
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. 62 5
24438083 2014
18
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature. 62 5
24119002 2014
19
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 62 5
23625800 2013
20
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. 62 5
23908116 2013
21
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 62 5
21489838 2011
22
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. 62 5
21225925 2011
23
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. 62 5
21162090 2011
24
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 62 5
18422784 2008
25
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 62 5
18240171 2008
26
Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. 62 5
18090929 2007
27
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. 62 57
17054430 2006
28
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 62 5
16470591 2006
29
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. 62 57
16351641 2005
30
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. 62 5
16219544 2005
31
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 62 5
11972523 2002
32
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
33
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing. 5
30886832 2019
34
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms. 5
30840646 2019
35
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. 5
31249973 2018
36
Pathogenic Germline Variants in 10,389 Adult Cancers. 5
29625052 2018
37
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 5
27418648 2016
38
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 5
25538044 2015
39
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 5
24728327 2014
40
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. 5
22180433 2012
41
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 5
21659346 2011
42
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 5
19036112 2009
43
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
44
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
45
Statistical features of human exons and their flanking regions. 5
9536098 1998
46
The effect of furosemide on the renal damage induced by toxic mushroom Cortinarius speciosissimus in the rat. 5
971406 1976
47
Mutational inhibition of c-Myb or p300 ameliorates treatment-induced thrombocytopenia. 53 62
19252138 2009
48
Incomplete restoration of Mpl expression in the mpl-/- mouse produces partial correction of the stem cell-repopulating defect and paradoxical thrombocytosis. 53 62
18796624 2009
49
JAK and MPL mutations in myeloid malignancies. 53 62
18297515 2008
50
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. 53 62
17034029 2007
Sources

Variations for Amegakaryocytic Thrombocytopenia, Congenital

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ClinVar genetic disease variations for Amegakaryocytic Thrombocytopenia, Congenital:

5 (show top 50) (show all 385)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPL NM_005373.3(MPL):c.556C>T (p.Gln186Ter) SNV Pathogenic
 14154 rs121913610 GRCh37: 1:43805106-43805106
GRCh38: 1:43339435-43339435
2 MPL NM_005373.3(MPL):c.1499del (p.Leu500fs) DEL Pathogenic
 14155 rs1570472103 GRCh37: 1:43814964-43814964
GRCh38: 1:43349293-43349293
3 MPL NM_005373.3(MPL):c.1473G>A (p.Trp491Ter) SNV Pathogenic
 14159 rs121913613 GRCh37: 1:43814938-43814938
GRCh38: 1:43349267-43349267
4 MPL NM_005373.3(MPL):c.1566-1G>T SNV Pathogenic
 14160 rs1570474015 GRCh37: 1:43817886-43817886
GRCh38: 1:43352215-43352215
5 MPL NM_005373.3(MPL):c.823C>A (p.Pro275Thr) SNV Pathogenic
 14161 rs28928908 GRCh37: 1:43805767-43805767
GRCh38: 1:43340096-43340096
6 MPL NM_005373.3(MPL):c.1670C>A (p.Ser557Ter) SNV Pathogenic
 1236205 GRCh37: 1:43818205-43818205
GRCh38: 1:43352534-43352534
7 MPL NM_005373.3(MPL):c.1468+1G>C SNV Pathogenic
 1320277 GRCh37: 1:43814674-43814674
GRCh38: 1:43349003-43349003
8 MPL NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) SNV Pathogenic
 134819 rs369156948 GRCh37: 1:43817942-43817942
GRCh38: 1:43352271-43352271
9 MPL NM_005373.3(MPL):c.842del (p.Pro281fs) DEL Pathogenic
 1368759 GRCh37: 1:43805785-43805785
GRCh38: 1:43340114-43340114
10 MPL NM_005373.3(MPL):c.1225_1226insT (p.Glu409fs) INSERT Pathogenic
 1378565 GRCh37: 1:43812522-43812523
GRCh38: 1:43346851-43346852
11 MPL NM_005373.3(MPL):c.478G>T (p.Glu160Ter) SNV Pathogenic
 1416785 GRCh37: 1:43805028-43805028
GRCh38: 1:43339357-43339357
12 MPL NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) SNV Pathogenic
 1453832 GRCh37: 1:43814636-43814636
GRCh38: 1:43348965-43348965
13 MPL NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) DEL Pathogenic
 1456884 GRCh37: 1:43814997-43815000
GRCh38: 1:43349326-43349329
14 MPL NM_005373.3(MPL):c.94del (p.Ala32fs) DEL Pathogenic
 1456793 GRCh37: 1:43803783-43803783
GRCh38: 1:43338112-43338112
15 MPL NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) DEL Pathogenic
 1456841 GRCh37: 1:43812601-43812601
GRCh38: 1:43346930-43346930
16 MPL NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) SNV Pathogenic
 1457605 GRCh37: 1:43803879-43803879
GRCh38: 1:43338208-43338208
17 MPL NC_000001.10:g.(?_43800988)_(43803797_?)del DEL Pathogenic
 1458516 GRCh37: 1:43800988-43803797
GRCh38:
18 MPL NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) SNV Pathogenic
 1442900 GRCh37: 1:43814583-43814583
GRCh38: 1:43348912-43348912
19 MPL NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) SNV Pathogenic
 1455725 GRCh37: 1:43812516-43812516
GRCh38: 1:43346845-43346845
20 MPL NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) DEL Pathogenic
 1455997 GRCh37: 1:43814953-43814954
GRCh38: 1:43349282-43349283
21 MPL NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) SNV Pathogenic
 1457364 GRCh37: 1:43815011-43815011
GRCh38: 1:43349340-43349340
22 MPL NM_005373.3(MPL):c.1346dup (p.Glu450fs) DUP Pathogenic
 1382942 GRCh37: 1:43814550-43814551
GRCh38: 1:43348879-43348880
23 MPL NM_005373.3(MPL):c.605dup (p.Ala203fs) DUP Pathogenic
 1381492 GRCh37: 1:43805154-43805155
GRCh38: 1:43339483-43339484
24 MPL NM_005373.3(MPL):c.972_973del (p.Asp326fs) DEL Pathogenic
 1395269 GRCh37: 1:43806176-43806177
GRCh38: 1:43340505-43340506
25 MPL NM_005373.3(MPL):c.311del (p.Phe104fs) DEL Pathogenic
 1451857 GRCh37: 1:43804310-43804310
GRCh38: 1:43338639-43338639
26 MPL NM_005373.3(MPL):c.655dup (p.Gln219fs) DUP Pathogenic
 1453136 GRCh37: 1:43805204-43805205
GRCh38: 1:43339533-43339534
27 MPL NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) SNV Pathogenic
 1436487 GRCh37: 1:43812545-43812545
GRCh38: 1:43346874-43346874
28 MPL NM_005373.3(MPL):c.190C>T (p.Gln64Ter) SNV Pathogenic
 1448576 GRCh37: 1:43803880-43803880
GRCh38: 1:43338209-43338209
29 MPL NM_005373.3(MPL):c.793del (p.Leu265fs) DEL Pathogenic
 839594 rs1647020172 GRCh37: 1:43805735-43805735
GRCh38: 1:43340064-43340064
30 MPL NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) SNV Pathogenic
 947960 rs1647073222 GRCh37: 1:43814553-43814553
GRCh38: 1:43348882-43348882
31 MPL NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) SNV Pathogenic
 948825 rs1647060064 GRCh37: 1:43812567-43812567
GRCh38: 1:43346896-43346896
32 MPL NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) SNV Pathogenic
 1072100 GRCh37: 1:43812177-43812177
GRCh38: 1:43346506-43346506
33 MPL NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) DEL Pathogenic
 1073154 GRCh37: 1:43812560-43812561
GRCh38: 1:43346889-43346890
34 MPL NM_005373.3(MPL):c.252del (p.Met84fs) DEL Pathogenic
 1073761 GRCh37: 1:43804252-43804252
GRCh38: 1:43338581-43338581
35 MPL NM_005373.3(MPL):c.1025del (p.Pro342fs) DEL Pathogenic
 1074655 GRCh37: 1:43812159-43812159
GRCh38: 1:43346488-43346488
36 MPL NM_005373.3(MPL):c.308del (p.Leu103fs) DEL Pathogenic
 1075094 GRCh37: 1:43804308-43804308
GRCh38: 1:43338637-43338637
37 MPL NM_005373.3(MPL):c.127C>T (p.Arg43Ter) SNV Pathogenic
Pathogenic
 371574 rs148434485 GRCh37: 1:43803817-43803817
GRCh38: 1:43338146-43338146
38 MPL NM_005373.3(MPL):c.378del (p.Phe126fs) DEL Pathogenic
Pathogenic
 265249 rs587778515 GRCh37: 1:43804376-43804376
GRCh38: 1:43338705-43338705
39 MPL NM_005373.3(MPL):c.304C>T (p.Arg102Cys) SNV Pathogenic
Pathogenic/Likely Pathogenic
 644406 rs763568293 GRCh37: 1:43804304-43804304
GRCh38: 1:43338633-43338633
40 MPL NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) SNV Pathogenic
 656664 rs1302209849 GRCh37: 1:43814667-43814667
GRCh38: 1:43348996-43348996
41 MPL NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) SNV Pathogenic
 660831 rs1570470199 GRCh37: 1:43812491-43812491
GRCh38: 1:43346820-43346820
42 MPL NC_000001.11:g.(?_43349253)_(43349369_?)del DEL Pathogenic
 665044 GRCh37: 1:43814924-43815040
GRCh38: 1:43349253-43349369
43 MPL NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) MICROSAT Pathogenic
 1360846 GRCh37: 1:43818345-43818348
GRCh38: 1:43352674-43352677
44 MPL NM_005373.3(MPL):c.455del (p.Ile152fs) DEL Pathogenic
 943961 rs1647014461 GRCh37: 1:43805005-43805005
GRCh38: 1:43339334-43339334
45 MPL NM_005373.3(MPL):c.1573del (p.Arg525fs) DEL Pathogenic
 1068255 GRCh37: 1:43817894-43817894
GRCh38: 1:43352223-43352223
46 MPL NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) SNV Pathogenic
 1068628 GRCh37: 1:43812573-43812573
GRCh38: 1:43346902-43346902
47 MPL NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) SNV Pathogenic
 1069689 GRCh37: 1:43804273-43804273
GRCh38: 1:43338602-43338602
48 MPL NM_005373.3(MPL):c.230del (p.Cys77fs) DEL Pathogenic
 1069872 GRCh37: 1:43804230-43804230
GRCh38: 1:43338559-43338559
49 MPL NM_005373.3(MPL):c.603_606del (p.His201fs) MICROSAT Pathogenic
 1071039 GRCh37: 1:43805149-43805152
GRCh38: 1:43339478-43339481
50 MPL NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) SNV Pathogenic
 1072631 GRCh37: 1:43815028-43815028
GRCh38: 1:43349357-43349357

UniProtKB/Swiss-Prot genetic disease variations for Amegakaryocytic Thrombocytopenia, Congenital:

73
# Symbol AA change Variation ID SNP ID
1 MPL p.Arg102Cys VAR_073030 rs763568293
2 MPL p.Arg102Pro VAR_073031 rs28928907
3 MPL p.Phe104Ser VAR_073032 rs1196161699
4 MPL p.Pro136Leu VAR_073034 rs764904424
5 MPL p.Trp154Arg VAR_073035 rs758428763
6 MPL p.Arg257Leu VAR_073036
7 MPL p.Pro275Thr VAR_073037 rs28928908
8 MPL p.Trp435Cys VAR_073038 rs1006158872
9 MPL p.Leu594Trp VAR_073039 rs1448812001

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Expression for Amegakaryocytic Thrombocytopenia, Congenital

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Search GEO for disease gene expression data for Amegakaryocytic Thrombocytopenia, Congenital.
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Pathways for Amegakaryocytic Thrombocytopenia, Congenital

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Pathways related to Amegakaryocytic Thrombocytopenia, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.86 TUBB1 THPO MPL JAK2 ITGA2B GATA1
2
NF-kappaB Signaling 3
11.68 MPL MECOM JAK2 IL3 GFI1B GATA1
3
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.67 THPO IL3 GATA1
4
Hematopoietic Stem Cells and Lineage-specific Markers 65
11.42 THPO MPL ITGA2B IL3 CD34
5
Visual Cycle in Retinal Rods 64
11.41 THPO MPL JAK2
6
Integrin signaling 66
Show member pathways
 11.31 THPO MPL ITGA2B
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GO Terms for Amegakaryocytic Thrombocytopenia, Congenital

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Biological processes related to Amegakaryocytic Thrombocytopenia, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.73 RPS19 JAK2 GATA1
2 megakaryocyte differentiation GO:0030219 9.62 THPO GATA1
3 platelet aggregation GO:0070527 9.5 TUBB1 MYH9 MPL GATA1
4 thrombopoietin-mediated signaling pathway GO:0038163 9.46 THPO MPL
5 platelet formation GO:0030220 9.17 TUBB1 NBEAL2 MYH9 GATA1
Sources

Sources for Amegakaryocytic Thrombocytopenia, Congenital

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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