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CAMT
MCID: AMG001
MIFTS: 50

Amegakaryocytic Thrombocytopenia, Congenital (CAMT)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 55 38
Congenital Amegakaryocytic Thrombocytopenia 38 12 53 59 75 37 29 6 44 15 73
Camt 57 12 53 59 75
Congenital Amegakaryocytic Thrombocytopenic Purpura 12 59
Thrombocytopenia, Congenital Amegakaryocytic 57 13
Thrombocytopenia, Amegakaryocytic, Congenital 40
Thrombocytopenia Congenital Amegakaryocytic 53

Characteristics:

Orphanet epidemiological data:

59
congenital amegakaryocytic thrombocytopenia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amegakaryocytic thrombocytopenia, congenital:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 604498
Disease Ontology 12 DOID:0090118
MeSH 44 C535982
NCIt 50 C115207
Orphanet 59 ORPHA3319
UMLS via Orphanet 74 C1327915
ICD10 via Orphanet 34 D61.0
MESH via Orphanet 45 C535982
MedGen 42 C1327915
KEGG 37 H00227
UMLS 73 C1327915
Sources

Summaries for Amegakaryocytic Thrombocytopenia, Congenital

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3319Disease definitionCongenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome 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.EpidemiologyThe exact prevalence is unknown and less than 100 cases have been reported in the literature. In addition, the incidence may be underestimated due to difficult and inconsistent diagnosis of the disease.Clinical descriptionCAMT manifests since birth, often in the first day or at least within the first month of life, with petechiae, purpura, and gastrointestinal, pulmonary or intracranial hemorrhage due to isolated thrombocytopenia and a near absence of megakaryocytes in the bone marrow. Two types of CAMT have been identified. Type I-CAMT is the severe form of the disease and is characterized by persistently low platelet counts and early progression (usually by the age of 2 years) to bone marrow aplasia associated with pancytopenia. Type II-CAMT is a milder form which presents with transient increase of platelet counts over 50x109/L during the first year of life and late (by the age of 3-6 years) or no development of pancytopenia. Cardiac defects (atrial and ventricular septal defects (see this term), abnormalities of the central nervous system (cerebral and cerebellar hypoplasia), and retardation of psychomotor development have occasionally been reported.EtiologyCAMT is due to mutations in theMPL gene (1p34) coding for Thrombopoietin (TPO) receptor (c-MPL), expressed in pluripotent hematopoietic stem cells and cells of the megakaryocyte lineage. The binding of TPO to c-MPLstimulates platelet and megakaryocyte production. Different types of mutations have been associated with different phenotypes. Nonsense mutations predicted to result in a complete loss of function of the TPO receptor lead to type I-CAMT, whereas missense mutations predicted to lead to a residual function of the receptor are associated with type II-CAMT. Cases with no defects in the MPL gene are referred to as type III-CAMT. Recently, a 21q22 deletion resulting in RUNX1 haploinsufficiency has been reported in a case of CAMT associated with various anomalies (growth retardation, hearing deficits, hernias, poor feeding).Diagnostic methodsDiagnosis is based on clinical signs, on the evidence by blood tests of thrombocytopenia (platelet count below 50x109/L) with a normal mean platelet volume and of highly elevated serum levels of TPO, and on the observation in a bone marrow aspirate of absent or very few megakaryocytes. Genetic testing can confirm the diagnosis.Differential diagnosisThe initial presentation of CAMT with isolated thrombocytopenia can be misdiagnosed as idiopathic thrombocytopenic purpura (ITP), while the late pancytopenic phase is indistinguishable from aplastic anemia (see these terms). Fanconi anemia, thrombocytopenia-absent radius (TAR), syndrome and Wiscott-Aldrich syndrome (WAS) (see these terms) should be also ruled out.Antenatal diagnosisPrenatal diagnosis is possible for families in which the disease-causing mutation has been identified.Genetic counselingThe inheritance pattern is autosomal recessive.Management and treatmentManagement is supportive, mainly consisting of multiple platelet transfusions. At present, hematopoietic stem cell transplantation (HSCT) is the only curative therapy.PrognosisPrognosis is poor and with supportive therapy, progression to full marrow failure (tri-linear marrow aplasia) occurs during the first years of life. 30% of patients with CAMT die due to bleeding complications before the HSCT and 20% due to the HSCT.Visit the Orphanet disease page for more resources.

MalaCards based summary : Amegakaryocytic Thrombocytopenia, Congenital, also known as congenital amegakaryocytic thrombocytopenia, is related to pancytopenia and aplastic anemia. An important gene associated with Amegakaryocytic Thrombocytopenia, Congenital is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and JAK-STAT signaling pathway (KEGG). The drugs Fludarabine and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related phenotypes are short neck and scoliosis

Disease Ontology : 12 A thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34.

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)

UniProtKB/Swiss-Prot : 75 Congenital amegakaryocytic thrombocytopenia: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.

Wikipedia : 76 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 all 34)
# Related Disease Score Top Affiliating Genes
1 pancytopenia 30.1 IL3 MPL THPO
2 aplastic anemia 30.0 IL3 MPL THPO
3 thrombocytopenia 10.4
4 thrombocytopenia 3 10.1 MPL THPO
5 thrombocythemia 1 10.1 MPL THPO
6 dyskeratosis congenita, autosomal dominant 6 10.1 MPL THPO
7 thrombocytopenia due to platelet alloimmunization 10.1 MPL THPO
8 primary thrombocytopenia 10.1 MPL THPO
9 refractory anemia 10.1 IL3 MPL
10 autoimmune disease of blood 10.1 MPL THPO
11 thrombocytopenia-absent radius syndrome 10.1 MPL THPO
12 thrombocytopenic purpura, autoimmune 10.1 MPL THPO
13 primary polycythemia 10.1 IL3 MPL
14 purpura 10.1 MPL THPO
15 erythrocytosis, familial, 1 10.1 IL3 THPO
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
17 hematopoietic stem cell transplantation 10.1
18 blood coagulation disease 10.1 MPL THPO
19 cholesterol embolism 10.0 GIPC1 TAX1BP3
20 blood platelet disease 10.0 MPL THPO
21 intracranial embolism 10.0 GIPC1 TAX1BP3
22 thrombocytosis 10.0 IL3 MPL THPO
23 polycythemia 10.0 IL3 MPL THPO
24 polycythemia vera 10.0 IL3 MPL THPO
25 bone marrow cancer 10.0 IL3 MPL THPO
26 essential thrombocythemia 10.0 IL3 MPL THPO
27 myelofibrosis 10.0 IL3 MPL THPO
28 leukemia, chronic myeloid 10.0 IL3 MPL THPO
29 diamond-blackfan anemia 10.0 IL3 MPL THPO
30 hematologic cancer 9.9 IL3 MPL THPO
31 megakaryocytic leukemia 9.9 IL3 THPO
32 hemorrhagic disease 9.9 MPL THPO
33 leukemia, acute myeloid 9.9 IL3 MPL THPO
34 myelodysplastic syndrome 9.9 IL3 MPL THPO

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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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hypoplastic cerebellar vermis

Hematology:
severe thrombocytopenia (birth)
pancytopenia (childhood)
megakaryocytopenia
elevated serum thrombopoietin (tpo)

Skeletal Limbs:
normal radii


Clinical features from OMIM:

604498

Human phenotypes related to Amegakaryocytic Thrombocytopenia, Congenital:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
6 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
7 melanocytic nevus 59 32 frequent (33%) Frequent (79-30%) HP:0000995
8 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
9 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
10 decreased skull ossification 59 32 occasional (7.5%) Occasional (29-5%) HP:0004331
11 pancytopenia 32 HP:0001876
12 abnormality of the cardiac septa 59 Occasional (29-5%)
13 cerebellar vermis hypoplasia 32 HP:0001320
14 amegakaryocytic thrombocytopenia 32 HP:0004859
15 megakaryocytopenia 32 HP:0005548
16 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671
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 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
2
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
3
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
4
leucovorin Approved Phase 2 58-05-9 6006 143
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
7
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
8
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Melphalan Approved Phase 2 148-82-3 4053 460612
15
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
16
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
17
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
21 Antirheumatic Agents Phase 2
22 Hormones Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
24 Nucleic Acid Synthesis Inhibitors Phase 2
25 Antineoplastic Agents, Alkylating Phase 2,Phase 1
26 Immunologic Factors Phase 2,Phase 1
27 Antineoplastic Agents, Hormonal Phase 2
28 Antimetabolites, Antineoplastic Phase 2,Phase 1
29 Calcineurin Inhibitors Phase 2
30 Peripheral Nervous System Agents Phase 2
31 Alkylating Agents Phase 2,Phase 1
32 Antifungal Agents Phase 2
33 Vitamin B Complex Phase 2
34 Antiviral Agents Phase 2
35 Anti-Inflammatory Agents Phase 2
36 Folic Acid Antagonists Phase 2
37 Methylprednisolone acetate Phase 2
38 Folate Phase 2
39 Gastrointestinal Agents Phase 2
40 Prednisolone acetate Phase 2
41 Hormone Antagonists Phase 2
42 Antiemetics Phase 2
43 Neuroprotective Agents Phase 2
44 Immunosuppressive Agents Phase 2,Phase 1
45 Cyclosporins Phase 2
46 Autonomic Agents Phase 2
47 Dermatologic Agents Phase 2
48 Anti-Infective Agents Phase 2
49 glucocorticoids Phase 2
50 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
2 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
3 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
4 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
5 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
6 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
7 Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease 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

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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 29 MPL
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Anatomical Context for Amegakaryocytic Thrombocytopenia, Congenital

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MalaCards organs/tissues related to Amegakaryocytic Thrombocytopenia, Congenital:

41
Bone, Bone Marrow, Testes, T Cells, Myeloid
Sources

Publications for Amegakaryocytic Thrombocytopenia, Congenital

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Articles related to Amegakaryocytic Thrombocytopenia, Congenital:

(show top 50) (show all 59)
# Title Authors Year
1
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable withA romiplostim. ( 29191945 )
2018
2
A novel frameshift mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. ( 29384262 )
2018
3
Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia. ( 29296828 )
2017
4
Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians. ( 28697167 )
2017
5
Establishment of a congenital amegakaryocytic thrombocytopenia model and a thrombocyte-specific reporter line in zebrafish. ( 27811851 )
2017
6
Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies. ( 26854587 )
2016
7
Congenital amegakaryocytic thrombocytopenia with severe neurological findings. ( 27100302 )
2016
8
Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene. ( 26316487 )
2015
9
Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation. ( 26369627 )
2015
10
Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate. ( 25518793 )
2014
11
Congenital Amegakaryocytic Thrombocytopenia: A Case Report of Pediatric Twins Undergoing Matched Unrelated Bone Marrow Transplantation. ( 25171451 )
2014
12
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature. ( 24119002 )
2014
13
Congenital amegakaryocytic thrombocytopenia: three case reports from patients with different clinical diagnoses and somatic abnormalities. ( 25185677 )
2014
14
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. ( 24438083 )
2014
15
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. ( 23908116 )
2013
16
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. ( 23625800 )
2013
17
A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1. ( 23443295 )
2013
18
T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. ( 21785471 )
2012
19
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. ( 21489838 )
2011
20
Congenital amegakaryocytic thrombocytopenia. ( 21337678 )
2011
21
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. ( 21162090 )
2011
22
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. ( 22102270 )
2011
23
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. ( 20188141 )
2010
24
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature. ( 19490489 )
2010
25
Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. ( 21151552 )
2010
26
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. ( 19388932 )
2009
27
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. ( 19327586 )
2009
28
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. ( 19302922 )
2009
29
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. ( 18422784 )
2008
30
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). ( 18519517 )
2008
31
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. ( 18240171 )
2008
32
Congenital amegakaryocytic thrombocytopenia (CAMT): a case report with review of literature. ( 17883175 )
2007
33
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. ( 17666371 )
2007
34
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. ( 17034029 )
2007
35
Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. ( 18090929 )
2007
36
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. ( 16470591 )
2006
37
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. ( 16822462 )
2006
38
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. ( 17054430 )
2006
39
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. ( 16351641 )
2005
40
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. ( 16219544 )
2005
41
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. ( 15782403 )
2005
42
Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor. ( 15667621 )
2005
43
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT). ( 14968137 )
2004
44
Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. ( 12799278 )
2003
45
Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia. ( 11902750 )
2002
46
[From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia]. ( 11913111 )
2002
47
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. ( 11392330 )
2001
48
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. ( 11133753 )
2001
49
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. ( 10971406 )
2000
50
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). ( 11071383 )
2000
Sources

Variations for Amegakaryocytic Thrombocytopenia, Congenital

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

75
# 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
4 MPL p.Pro136Leu VAR_073034
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 rs100615887
9 MPL p.Leu594Trp VAR_073039

ClinVar genetic disease variations for Amegakaryocytic Thrombocytopenia, Congenital:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPL NM_005373.2(MPL): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs121913610 GRCh37 Chromosome 1, 43805106: 43805106
2 MPL NM_005373.2(MPL): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs121913610 GRCh38 Chromosome 1, 43339435: 43339435
3 MPL MPL, 1-BP DEL, 1499T deletion Pathogenic
4 MPL NM_005373.2(MPL): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs121913611 GRCh37 Chromosome 1, 43805713: 43805713
5 MPL NM_005373.2(MPL): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs121913611 GRCh38 Chromosome 1, 43340042: 43340042
6 MPL NM_005373.2(MPL): c.1904C> T (p.Pro635Leu) single nucleotide variant Pathogenic rs121913612 GRCh37 Chromosome 1, 43818439: 43818439
7 MPL NM_005373.2(MPL): c.1904C> T (p.Pro635Leu) single nucleotide variant Pathogenic rs121913612 GRCh38 Chromosome 1, 43352768: 43352768
8 MPL NM_005373.2(MPL): c.305G> C (p.Arg102Pro) single nucleotide variant Pathogenic rs28928907 GRCh37 Chromosome 1, 43804305: 43804305
9 MPL NM_005373.2(MPL): c.305G> C (p.Arg102Pro) single nucleotide variant Pathogenic rs28928907 GRCh38 Chromosome 1, 43338634: 43338634
10 MPL NM_005373.2(MPL): c.1473G> A (p.Trp491Ter) single nucleotide variant Pathogenic rs121913613 GRCh37 Chromosome 1, 43814938: 43814938
11 MPL NM_005373.2(MPL): c.1473G> A (p.Trp491Ter) single nucleotide variant Pathogenic rs121913613 GRCh38 Chromosome 1, 43349267: 43349267
12 MPL MPL, IVS10AS, G-T, -1 single nucleotide variant Pathogenic
13 MPL NM_005373.2(MPL): c.823C> A (p.Pro275Thr) single nucleotide variant Pathogenic rs28928908 GRCh37 Chromosome 1, 43805767: 43805767
14 MPL NM_005373.2(MPL): c.823C> A (p.Pro275Thr) single nucleotide variant Pathogenic rs28928908 GRCh38 Chromosome 1, 43340096: 43340096
15 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh37 Chromosome 1, 43803807: 43803807
16 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh38 Chromosome 1, 43338136: 43338136
17 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic rs121913615 GRCh37 Chromosome 1, 43815009: 43815009
18 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic rs121913615 GRCh38 Chromosome 1, 43349338: 43349338
19 MPL NM_005373.2(MPL): c.209C> T (p.Pro70Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61754776 GRCh38 Chromosome 1, 43338228: 43338228
20 MPL NM_005373.2(MPL): c.209C> T (p.Pro70Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61754776 GRCh37 Chromosome 1, 43803899: 43803899
21 MPL NM_005373.2(MPL): c.235_236delCT (p.Leu79Glufs) deletion Pathogenic rs587778514 GRCh38 Chromosome 1, 43338564: 43338565
22 MPL NM_005373.2(MPL): c.235_236delCT (p.Leu79Glufs) deletion Pathogenic rs587778514 GRCh37 Chromosome 1, 43804235: 43804236
23 MPL NM_005373.2(MPL): c.340G> A (p.Val114Met) single nucleotide variant Benign/Likely benign rs12731981 GRCh38 Chromosome 1, 43338669: 43338669
24 MPL NM_005373.2(MPL): c.340G> A (p.Val114Met) single nucleotide variant Benign/Likely benign rs12731981 GRCh37 Chromosome 1, 43804340: 43804340
25 MPL NM_005373.2(MPL): c.690A> G (p.Glu230=) single nucleotide variant Benign rs16830693 GRCh38 Chromosome 1, 43339569: 43339569
26 MPL NM_005373.2(MPL): c.690A> G (p.Glu230=) single nucleotide variant Benign rs16830693 GRCh37 Chromosome 1, 43805240: 43805240
27 MPL NM_005373.2(MPL): c.655C> G (p.Gln219Glu) single nucleotide variant Uncertain significance rs142737453 GRCh37 Chromosome 1, 43805205: 43805205
28 MPL NM_005373.2(MPL): c.655C> G (p.Gln219Glu) single nucleotide variant Uncertain significance rs142737453 GRCh38 Chromosome 1, 43339534: 43339534
29 MPL NM_005373.2(MPL): c.793C> T (p.Leu265Phe) single nucleotide variant Benign/Likely benign rs117656396 GRCh37 Chromosome 1, 43805737: 43805737
30 MPL NM_005373.2(MPL): c.793C> T (p.Leu265Phe) single nucleotide variant Benign/Likely benign rs117656396 GRCh38 Chromosome 1, 43340066: 43340066
31 MPL NM_005373.2(MPL): c.962G> A (p.Arg321Gln) single nucleotide variant Benign/Likely benign rs149265851 GRCh37 Chromosome 1, 43806166: 43806166
32 MPL NM_005373.2(MPL): c.962G> A (p.Arg321Gln) single nucleotide variant Benign/Likely benign rs149265851 GRCh38 Chromosome 1, 43340495: 43340495
33 MPL NM_005373.2(MPL): c.1063A> G (p.Lys355Glu) single nucleotide variant Uncertain significance rs546510242 GRCh37 Chromosome 1, 43812198: 43812198
34 MPL NM_005373.2(MPL): c.1063A> G (p.Lys355Glu) single nucleotide variant Uncertain significance rs546510242 GRCh38 Chromosome 1, 43346527: 43346527
35 MPL NM_005373.2(MPL): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs190983971 GRCh37 Chromosome 1, 43812255: 43812255
36 MPL NM_005373.2(MPL): c.1120A> G (p.Thr374Ala) single nucleotide variant Benign/Likely benign rs190983971 GRCh38 Chromosome 1, 43346584: 43346584
37 MPL NM_005373.2(MPL): c.1102G> T (p.Val368Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149810307 GRCh37 Chromosome 1, 43812237: 43812237
38 MPL NM_005373.2(MPL): c.1102G> T (p.Val368Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149810307 GRCh38 Chromosome 1, 43346566: 43346566
39 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 GRCh38 Chromosome 1, 43337929: 43337929
40 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 GRCh37 Chromosome 1, 43803600: 43803600
41 MPL NM_005373.2(MPL): c.1565+5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41269541 GRCh38 Chromosome 1, 43349364: 43349364
42 MPL NM_005373.2(MPL): c.1565+5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41269541 GRCh37 Chromosome 1, 43815035: 43815035
43 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh37 Chromosome 1, 43803900: 43803900
44 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh38 Chromosome 1, 43338229: 43338229
45 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh38 Chromosome 1, 43338111: 43338111
46 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh37 Chromosome 1, 43803782: 43803782
47 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh37 Chromosome 1, 43805788: 43805788
48 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh38 Chromosome 1, 43340117: 43340117
49 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh37 Chromosome 1, 43814504: 43814504
50 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh38 Chromosome 1, 43348833: 43348833
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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 KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060

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

# Super pathways Score Top Affiliating Genes
1
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 11.5 IL3 MPL THPO
2
Visual Cycle in Retinal Rods 64
11.29 MPL THPO
3
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.25 MPL THPO
4
Hematopoietic cell lineage 37
11.14 IL3 THPO
5
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
10.86 IL3 MPL THPO
6
Development_Thrombopoetin signaling via JAK-STAT pathway 22
10.73 MPL THPO
Sources

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 thrombopoietin-mediated signaling pathway GO:0038163 8.62 MPL THPO
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Sources for Amegakaryocytic Thrombocytopenia, Congenital

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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