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MCID: AMG001
MIFTS: 52

Amegakaryocytic Thrombocytopenia, Congenital

Categories: Genetic diseases, Rare diseases, Blood 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 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
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 604498
Disease Ontology 12 DOID:0090118
ICD10 33 D61.0
MeSH 44 C535982
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 thrombocytopenia and pancytopenia. 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 PEDF Induced Signaling. The drugs alemtuzumab and Busulfan 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

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.

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.

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 32)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 28.6 MPL THPO
2 pancytopenia 28.5 IL3 MPL THPO
3 refractory anemia 10.0 IL3 MPL
4 erythrocytosis, familial, 1 9.7 IL3 THPO
5 thrombocytopenia 3 9.7 MPL THPO
6 thrombocythemia 1 9.6 MPL THPO
7 dyskeratosis congenita, autosomal dominant 6 9.6 MPL THPO
8 thrombocytopenia due to platelet alloimmunization 9.6 MPL THPO
9 primary thrombocytopenia 9.6 MPL THPO
10 autoimmune disease of blood 9.6 MPL THPO
11 thrombocytopenic purpura, autoimmune 9.5 MPL THPO
12 megakaryocytic leukemia 9.5 IL3 THPO
13 thrombocytopenia-absent radius syndrome 9.5 MPL THPO
14 blood coagulation disease 9.5 MPL THPO
15 hemorrhagic disease 9.5 MPL THPO
16 blood platelet disease 9.4 MPL THPO
17 immune system disease 9.4 IL3 THPO
18 purpura 9.4 MPL THPO
19 deficiency anemia 9.3 IL3 THPO
20 neutropenia 9.2 IL3 THPO
21 thrombocytosis 9.1 IL3 MPL THPO
22 polycythemia 9.1 IL3 MPL THPO
23 polycythemia vera 9.1 IL3 MPL THPO
24 bone marrow cancer 9.1 IL3 MPL THPO
25 essential thrombocythemia 9.1 IL3 MPL THPO
26 myelofibrosis 9.1 IL3 MPL THPO
27 leukemia, chronic myeloid 9.0 IL3 MPL THPO
28 diamond-blackfan anemia 9.0 IL3 MPL THPO
29 hematologic cancer 9.0 IL3 MPL THPO
30 aplastic anemia 9.0 IL3 MPL THPO
31 leukemia, acute myeloid 9.0 IL3 MPL THPO
32 myelodysplastic syndrome 9.0 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
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
3
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
9
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
10
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
11
Hydroxyurea Approved Phase 2 127-07-1 3657
12
Melphalan Approved Phase 2 148-82-3 4053 460612
13
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
14
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 2 24280-93-1 446541
16
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
19 Alkylating Agents Phase 2,Phase 1
20 Antiemetics Phase 2
21 Antifungal Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Anti-Inflammatory Agents Phase 2
24 Antimetabolites Phase 2,Phase 1
25 Antimetabolites, Antineoplastic Phase 2,Phase 1
26 Antineoplastic Agents, Alkylating Phase 2,Phase 1
27 Antineoplastic Agents, Hormonal Phase 2
28 Antirheumatic Agents Phase 2
29 Antiviral Agents Phase 2
30 Autonomic Agents Phase 2
31 Calcineurin Inhibitors Phase 2
32 Cyclosporins Phase 2
33 Dermatologic Agents Phase 2
34 Folic Acid Antagonists Phase 2
35 Gastrointestinal Agents Phase 2
36 glucocorticoids Phase 2
37 Hormone Antagonists Phase 2
38 Hormones Phase 2
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
40 Immunosuppressive Agents Phase 2,Phase 1
41 Methylprednisolone acetate Phase 2
42 Methylprednisolone Hemisuccinate Phase 2
43 Neuroprotective Agents Phase 2
44 Nucleic Acid Synthesis Inhibitors Phase 2
45 Peripheral Nervous System Agents Phase 2
46 Prednisolone acetate Phase 2
47 Prednisolone hemisuccinate Phase 2
48 Prednisolone phosphate Phase 2
49 Protective Agents Phase 2
50 Vitamin B Complex 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 Remi 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 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 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
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

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 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, Myeloid, T Cells
Sources

Publications for Amegakaryocytic Thrombocytopenia, Congenital

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Articles related to Amegakaryocytic Thrombocytopenia, Congenital:

(show top 50) (show all 52)
# Title Authors Year
1
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable withA romiplostim. ( 29191945 )
2018
2
Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene. ( 26316487 )
2015
3
Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate. ( 25518793 )
2014
4
Congenital Amegakaryocytic Thrombocytopenia: A Case Report of Pediatric Twins Undergoing Matched Unrelated Bone Marrow Transplantation. ( 25171451 )
2014
5
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature. ( 24119002 )
2014
6
Congenital amegakaryocytic thrombocytopenia: three case reports from patients with different clinical diagnoses and somatic abnormalities. ( 25185677 )
2014
7
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. ( 24438083 )
2014
8
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. ( 23908116 )
2013
9
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. ( 23625800 )
2013
10
A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1. ( 23443295 )
2013
11
T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. ( 21785471 )
2012
12
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. ( 21489838 )
2011
13
Congenital amegakaryocytic thrombocytopenia. ( 21337678 )
2011
14
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. ( 21162090 )
2011
15
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. ( 22102270 )
2011
16
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
17
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature. ( 19490489 )
2010
18
Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. ( 21151552 )
2010
19
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. ( 19388932 )
2009
20
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. ( 19327586 )
2009
21
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. ( 19302922 )
2009
22
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. ( 18422784 )
2008
23
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). ( 18519517 )
2008
24
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. ( 18240171 )
2008
25
Congenital amegakaryocytic thrombocytopenia (CAMT): a case report with review of literature. ( 17883175 )
2007
26
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. ( 17666371 )
2007
27
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. ( 17034029 )
2007
28
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. ( 16470591 )
2006
29
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. ( 16822462 )
2006
30
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. ( 17054430 )
2006
31
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. ( 16351641 )
2005
32
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. ( 16219544 )
2005
33
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. ( 15782403 )
2005
34
Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor. ( 15667621 )
2005
35
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT). ( 14968137 )
2004
36
Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. ( 12799278 )
2003
37
Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia. ( 11902750 )
2002
38
[From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia]. ( 11913111 )
2002
39
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. ( 11392330 )
2001
40
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. ( 11133753 )
2001
41
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. ( 10971406 )
2000
42
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). ( 11071383 )
2000
43
[Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia]. ( 11187928 )
2000
44
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. ( 10077649 )
1999
45
Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. ( 9029014 )
1997
46
Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. ( 7670411 )
1995
47
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. ( 8461459 )
1993
48
Congenital amegakaryocytic thrombocytopenia: an intrinsic hematopoietic stem cell defect. ( 2378417 )
1990
49
A case report of congenital amegakaryocytic thrombocytopenia. ( 6866544 )
1983
50
Congenital amegakaryocytic thrombocytopenia. ( 5689748 )
1968
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 rs1006158872Congenital
9 MPL p.Leu594Trp VAR_073039

ClinVar genetic disease variations for Amegakaryocytic Thrombocytopenia, Congenital:

6
(show top 50) (show all 138)
# 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.235_236delCT (p.Leu79Glufs) deletion Pathogenic rs587778514 GRCh38 Chromosome 1, 43338564: 43338565
20 MPL NM_005373.2(MPL): c.235_236delCT (p.Leu79Glufs) deletion Pathogenic rs587778514 GRCh37 Chromosome 1, 43804235: 43804236
21 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 GRCh38 Chromosome 1, 43337929: 43337929
22 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 GRCh37 Chromosome 1, 43803600: 43803600
23 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh37 Chromosome 1, 43803900: 43803900
24 MPL NM_005373.2(MPL): c.210G> A (p.Pro70=) single nucleotide variant Likely benign rs6086 GRCh38 Chromosome 1, 43338229: 43338229
25 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh38 Chromosome 1, 43338111: 43338111
26 MPL NM_005373.2(MPL): c.92T> C (p.Leu31Pro) single nucleotide variant Uncertain significance rs878854771 GRCh37 Chromosome 1, 43803782: 43803782
27 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh37 Chromosome 1, 43805788: 43805788
28 MPL NM_005373.2(MPL): c.844G> A (p.Gly282Arg) single nucleotide variant Uncertain significance rs878854770 GRCh38 Chromosome 1, 43340117: 43340117
29 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh37 Chromosome 1, 43814504: 43814504
30 MPL NM_005373.2(MPL): c.1309-10C> T single nucleotide variant Benign/Likely benign rs139486615 GRCh38 Chromosome 1, 43348833: 43348833
31 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh37 Chromosome 1, 43817977: 43817977
32 MPL NM_005373.2(MPL): c.1653+3G> A single nucleotide variant Benign/Likely benign rs149625825 GRCh38 Chromosome 1, 43352306: 43352306
33 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh38 Chromosome 1, 43352658: 43352658
34 MPL NM_005373.2(MPL): c.1794C> T (p.Cys598=) single nucleotide variant Benign/Likely benign rs143457144 GRCh37 Chromosome 1, 43818329: 43818329
35 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh38 Chromosome 1, 43338215: 43338215
36 MPL NM_005373.2(MPL): c.196C> T (p.Leu66=) single nucleotide variant Uncertain significance rs886046349 GRCh37 Chromosome 1, 43803886: 43803886
37 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh38 Chromosome 1, 43339422: 43339422
38 MPL NM_005373.2(MPL): c.543T> C (p.Gly181=) single nucleotide variant Benign/Likely benign rs17572791 GRCh37 Chromosome 1, 43805093: 43805093
39 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh38 Chromosome 1, 43346515: 43346515
40 MPL NM_005373.2(MPL): c.1051C> T (p.Arg351Cys) single nucleotide variant Uncertain significance rs201998783 GRCh37 Chromosome 1, 43812186: 43812186
41 MPL NM_005373.2(MPL): c.1337G> A (p.Gly446Glu) single nucleotide variant Uncertain significance rs561724539 GRCh38 Chromosome 1, 43348871: 43348871
42 MPL NM_005373.2(MPL): c.1337G> A (p.Gly446Glu) single nucleotide variant Uncertain significance rs561724539 GRCh37 Chromosome 1, 43814542: 43814542
43 MPL NM_005373.2(MPL): c.1570C> T (p.Leu524=) single nucleotide variant Likely benign rs146372205 GRCh38 Chromosome 1, 43352220: 43352220
44 MPL NM_005373.2(MPL): c.1570C> T (p.Leu524=) single nucleotide variant Likely benign rs146372205 GRCh37 Chromosome 1, 43817891: 43817891
45 MPL NM_005373.2(MPL): c.*573G> A single nucleotide variant Likely benign rs192016153 GRCh38 Chromosome 1, 43353345: 43353345
46 MPL NM_005373.2(MPL): c.*573G> A single nucleotide variant Likely benign rs192016153 GRCh37 Chromosome 1, 43819016: 43819016
47 MPL NM_005373.2(MPL): c.*924C> G single nucleotide variant Uncertain significance rs886046354 GRCh37 Chromosome 1, 43819367: 43819367
48 MPL NM_005373.2(MPL): c.*924C> G single nucleotide variant Uncertain significance rs886046354 GRCh38 Chromosome 1, 43353696: 43353696
49 MPL NM_005373.2(MPL): c.*1603A> C single nucleotide variant Likely benign rs142139493 GRCh38 Chromosome 1, 43354375: 43354375
50 MPL NM_005373.2(MPL): c.*1603A> C single nucleotide variant Likely benign rs142139493 GRCh37 Chromosome 1, 43820046: 43820046
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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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
PEDF Induced Signaling 64
Show member pathways
 12.99 IL3 MPL THPO
2
TGF-Beta Pathway 64
Show member pathways
 12.85 IL3 MPL THPO
3
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.66 IL3 MPL THPO
4
NF-kappaB Signaling 4
11.97 IL3 MPL
5
Regulation of IFNA signaling 66
Show member pathways
 11.73 IL3 MPL THPO
6
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.51 IL3 THPO
7
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.49 IL3 THPO
8
Visual Cycle in Retinal Rods 64
11.29 MPL THPO
9
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.25 MPL THPO
10
Hematopoietic cell lineage 37
11.14 IL3 THPO
11
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
10.86 IL3 MPL THPO
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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 cell proliferation GO:0008283 9.16 MPL THPO
2 cytokine-mediated signaling pathway GO:0019221 8.96 IL3 MPL
3 thrombopoietin-mediated signaling pathway GO:0038163 8.62 MPL THPO

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.96 IL3 THPO
2 growth factor activity GO:0008083 8.62 IL3 THPO
Sources

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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