CAMT
MCID: AMG001
MIFTS: 55

Amegakaryocytic Thrombocytopenia, Congenital (CAMT)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Amegakaryocytic Thrombocytopenia, Congenital

MalaCards integrated aliases for Amegakaryocytic Thrombocytopenia, Congenital:

Name: Amegakaryocytic Thrombocytopenia, Congenital 57 54 37
Congenital Amegakaryocytic Thrombocytopenia 12 20 58 72 36 29 6 44 15 70
Camt 57 12 20 58 72
Thrombocytopenia, Congenital Amegakaryocytic 57 13
Congenital Amegakaryocytic Thrombocytopenic Purpura 12
Thrombocytopenia, Amegakaryocytic, Congenital 39
Thrombocytopenia Congenital Amegakaryocytic 20

Characteristics:

Orphanet epidemiological data:

58
congenital amegakaryocytic thrombocytopenia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
amegakaryocytic thrombocytopenia, congenital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0090118
OMIM® 57 604498
KEGG 36 H00227
MeSH 44 C535982
NCIt 50 C115207
SNOMED-CT 67 716336002
MESH via Orphanet 45 C535982
ICD10 via Orphanet 33 D61.0
UMLS via Orphanet 71 C1327915
Orphanet 58 ORPHA3319
MedGen 41 C1327915
UMLS 70 C1327915

Summaries for Amegakaryocytic Thrombocytopenia, Congenital

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3319 Definition 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. Epidemiology Congenital amegakaryocytic thrombocytopenia (CAMT) 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 description CAMT 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), abnormalities of the central nervous system (cerebral and cerebellar hypoplasia), and retardation of psychomotor development have occasionally been reported. Etiology CAMT is due to mutations in the MPL 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-MPL stimulates 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 methods Diagnosis 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 diagnosis The 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. Fanconi anemia, thrombocytopenia-absent radius (TAR), syndrome and Wiscott-Aldrich syndrome (WAS) should be also ruled out. Antenatal diagnosis Prenatal diagnosis is possible for families in which the disease-causing mutation has been identified. Genetic counseling The inheritance pattern is autosomal recessive. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 25% risk of passing the mutation to offspring. Management and treatment Management is supportive, mainly consisting of multiple platelet transfusions. At present, hematopoietic stem cell transplantation (HSCT) is the only curative therapy. Prognosis Prognosis 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.

MalaCards based summary : Amegakaryocytic Thrombocytopenia, Congenital, also known as congenital amegakaryocytic thrombocytopenia, is related to thrombocythemia 1 and thrombocytopenia 3. 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 NF-kappaB Signaling. The drugs Methotrexate and Methylprednisolone 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 : 12 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.

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 20-May-2021)

KEGG : 36 Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced by defective expression or function of the thrombopoietin (THPO) receptor caused by mutations in the MPL gene.

UniProtKB/Swiss-Prot : 72 Congenital amegakaryocytic thrombocytopenia: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.

Wikipedia : 73 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited... more...

Related Diseases for Amegakaryocytic Thrombocytopenia, Congenital

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 80)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 30.6 THPO MPL
2 thrombocytopenia 3 30.5 THPO MPL
3 inherited bone marrow failure syndromes 30.3 SBDS MPL
4 pancytopenia 30.0 THPO MPL LUC7L2 IL3 CD34
5 thrombocytosis 30.0 THPO MPL JAK2 IL3
6 neutropenia 29.9 THPO SBDS MPL IL3 HAX1
7 essential thrombocythemia 29.7 THPO MPL JAK2 IL3 GATA1
8 leukemia, acute lymphoblastic 29.3 THPO MPL JAK2 IL3 GATA1 CD34
9 myelofibrosis 29.1 THPO MPL JAK2 IL3 GATA1 CD34
10 thrombocytopenia 29.1 THPO SBDS RBM8A MPL JAK2 IL3
11 leukemia, acute myeloid 29.0 THPO SBDS MPL LUC7L2 JAK2 IL3
12 deficiency anemia 28.9 THPO RPS19 MPL LUC7L2 JAK2 IL3
13 aplastic anemia 28.7 THPO SRP72 SBDS RPS19 MPL LUC7L2
14 blood platelet disease 28.6 THPO RBM8A MPL LUC7L2 JAK2 IL3
15 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 11.2
16 dyskeratosis congenita, autosomal dominant 6 10.3 THPO MPL
17 splenic sequestration 10.3 THPO MPL
18 evans' syndrome 10.3 THPO MPL
19 thrombocytopenia 1 10.2 THPO GATA1
20 primary thrombocytopenia 10.2 THPO MPL
21 myh-9 related disease 10.2 MPL ANKRD26
22 acquired polycythemia 10.1 MPL JAK2
23 acquired thrombocytopenia 10.1 THPO MPL ANKRD26
24 bowen-conradi syndrome 10.1 SBDS RPS19
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
26 refractory anemia 10.1 MPL JAK2
27 acute erythroid leukemia 10.1 JAK2 GATA1
28 primary polycythemia 10.1 JAK2 IL3
29 labyrinthitis 10.1 SRP72 LUC7L2
30 immunodeficiency 21 10.1 LUC7L2 GATA1 ANKRD26
31 thrombocytopenic purpura, autoimmune 10.0
32 wiskott-aldrich syndrome 10.0
33 graft-versus-host disease 10.0
34 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
35 human cytomegalovirus infection 10.0
36 respiratory failure 10.0
37 heart septal defect 10.0
38 atrial heart septal defect 10.0
39 encephalomalacia 10.0
40 polymicrogyria 10.0
41 acute graft versus host disease 10.0
42 neutrophilia, hereditary 10.0 LUC7L2 JAK2 IL3
43 splenomegaly 10.0 SBDS MPL JAK2
44 erythrocytosis, familial, 1 10.0 JAK2 IL3
45 neutropenia, severe congenital, 3, autosomal recessive 10.0 IL3 HAX1
46 thrombocytopenia-absent radius syndrome 10.0 THPO RBM8A MPL ANKRD26
47 bernard-soulier syndrome 10.0 THPO MPL GATA1 ANKRD26
48 treacher collins syndrome 1 10.0 SBDS RPS19 RPL35A
49 macrocytic anemia 10.0 RPS19 RPL35A LUC7L2
50 myeloproliferative syndrome, transient 9.9 THPO MPL GATA1 CD34

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



Diseases related to Amegakaryocytic Thrombocytopenia, Congenital

Symptoms & Phenotypes for Amegakaryocytic Thrombocytopenia, Congenital

Human phenotypes related to Amegakaryocytic Thrombocytopenia, Congenital:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
2 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
3 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
4 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
5 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
8 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
9 melanocytic nevus 58 31 frequent (33%) Frequent (79-30%) HP:0000995
10 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
11 decreased skull ossification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004331
12 cerebellar vermis hypoplasia 31 HP:0001320
13 pancytopenia 31 HP:0001876
14 amegakaryocytic thrombocytopenia 31 HP:0004859
15 megakaryocytopenia 31 HP:0005548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

Drugs & Therapeutics for Amegakaryocytic Thrombocytopenia, Congenital

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
2
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
8
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
9
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
10
alemtuzumab Approved, Investigational Phase 2 216503-57-0
11
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
12
Busulfan Approved, Investigational Phase 2 55-98-1 2478
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
15 Anti-Infective Agents Phase 2
16 Folic Acid Antagonists Phase 2
17 Vitamin B9 Phase 2
18 Hormones Phase 2
19 Antirheumatic Agents Phase 2
20 Alkylating Agents Phase 2
21 Methylprednisolone Acetate Phase 2
22 Antineoplastic Agents, Immunological Phase 2
23 Gastrointestinal Agents Phase 2
24 Immunosuppressive Agents Phase 2
25 Vitamin B Complex Phase 2
26 Antiemetics Phase 2
27 Cyclosporins Phase 2
28 Neuroprotective Agents Phase 2
29 Folate Phase 2
30 Protective Agents Phase 2
31 glucocorticoids Phase 2
32 Hormone Antagonists Phase 2
33 Calcineurin Inhibitors Phase 2
34 Antifungal Agents Phase 2
35 Anti-Inflammatory Agents Phase 2
36 Immunologic Factors Phase 2
37 Antimetabolites Phase 2
38 Dermatologic Agents Phase 2
39 Antilymphocyte Serum Phase 1, Phase 2
40
Thiotepa Approved, Investigational Phase 1 52-24-4 5453

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
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

Genetic Tests for Amegakaryocytic Thrombocytopenia, Congenital

Genetic tests related to Amegakaryocytic Thrombocytopenia, Congenital:

# Genetic test Affiliating Genes
1 Congenital Amegakaryocytic Thrombocytopenia 29 MPL

Anatomical Context for Amegakaryocytic Thrombocytopenia, Congenital

MalaCards organs/tissues related to Amegakaryocytic Thrombocytopenia, Congenital:

40
Bone Marrow, Bone, Myeloid, Heart, Colon, T Cells, Endothelial

Publications for Amegakaryocytic Thrombocytopenia, Congenital

Articles related to Amegakaryocytic Thrombocytopenia, Congenital:

(show top 50) (show all 118)
# Title Authors PMID Year
1
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 6 57 54 61
11133753 2001
2
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. 54 6 57 61
10077649 1999
3
Thrombocytopenia in c-mpl-deficient mice. 57 6
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. 54 61 6
20188141 2010
5
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 6 54 61
19302922 2009
6
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 6 54 61
17666371 2007
7
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). 61 6 54
11071383 2000
8
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 54 6 61
10971406 2000
9
Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. 57 54 61
9029014 1997
10
CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients. 61 6
32703794 2020
11
A novel frameshift mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. 61 6
29384262 2018
12
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 6 61
28859041 2018
13
Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians. 6 61
28697167 2017
14
Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies. 61 6
26854587 2016
15
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. 61 6
24438083 2014
16
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature. 6 61
24119002 2014
17
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 6 61
23625800 2013
18
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 6 61
21489838 2011
19
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. 61 6
21225925 2011
20
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. 6 61
21162090 2011
21
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 6 61
18240171 2008
22
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 6 61
18422784 2008
23
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. 61 57
17054430 2006
24
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 61 6
16470591 2006
25
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. 57 61
16351641 2005
26
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. 61 6
16219544 2005
27
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 61 6
11972523 2002
28
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
29
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 6
27418648 2016
30
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 6
25538044 2015
31
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 6
24728327 2014
32
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. 6
22180433 2012
33
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 6
21659346 2011
34
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 6
19036112 2009
35
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. 54 61
19388932 2009
36
Mutational inhibition of c-Myb or p300 ameliorates treatment-induced thrombocytopenia. 61 54
19252138 2009
37
Incomplete restoration of Mpl expression in the mpl-/- mouse produces partial correction of the stem cell-repopulating defect and paradoxical thrombocytosis. 61 54
18796624 2009
38
JAK and MPL mutations in myeloid malignancies. 54 61
18297515 2008
39
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. 54 61
17034029 2007
40
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. 61 54
16822462 2006
41
The Mpl receptor expressed on endothelial cells does not contribute significantly to the regulation of circulating thrombopoietin levels. 61 54
16413394 2006
42
Thrombopoietin regulates differentiation of rhesus monkey embryonic stem cells to hematopoietic cells. 54 61
15958695 2005
43
Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. 61 54
12799278 2003
44
Thrombopoietin in thrombocytopenias of childhood. 54 61
11446655 2001
45
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. 54 61
11392330 2001
46
[Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia]. 54 61
11187928 2000
47
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. 54 61
8461459 1993
48
Selective T-cell depletion targeting CD45RA as a novel approach for HLA-mismatched hematopoietic stem cell transplantation in pediatric nonmalignant hematological diseases. 61
33772729 2021
49
Haploidentical stem cell transplantation with post-transplant cyclophosphamide for osteopetrosis and other nonmalignant diseases. 61
32855443 2021
50
[Congenital amegakaryocytic thrombocytopenia with inflammatory disease of ascending colon and ileocecum: a case report and literature review]. 61
33113609 2020

Variations for Amegakaryocytic Thrombocytopenia, Congenital

ClinVar genetic disease variations for Amegakaryocytic Thrombocytopenia, Congenital:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPL NM_005373.2(MPL):c.972del (p.Arg325fs) Deletion Pathogenic 435886 rs770457041 GRCh37: 1:43806173-43806173
GRCh38: 1:43340502-43340502
2 MPL NM_005373.2(MPL):c.556C>T (p.Gln186Ter) SNV Pathogenic 14154 rs121913610 GRCh37: 1:43805106-43805106
GRCh38: 1:43339435-43339435
3 MPL NM_005373.3(MPL):c.1499del (p.Leu500fs) Deletion Pathogenic 14155 rs1570472103 GRCh37: 1:43814964-43814964
GRCh38: 1:43349293-43349293
4 MPL NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) SNV Pathogenic 14157 rs121913612 GRCh37: 1:43818439-43818439
GRCh38: 1:43352768-43352768
5 MPL NM_005373.2(MPL):c.1473G>A (p.Trp491Ter) SNV Pathogenic 14159 rs121913613 GRCh37: 1:43814938-43814938
GRCh38: 1:43349267-43349267
6 MPL NM_005373.3(MPL):c.1566-1G>T SNV Pathogenic 14160 rs1570474015 GRCh37: 1:43817886-43817886
GRCh38: 1:43352215-43352215
7 MPL NM_005373.2(MPL):c.823C>A (p.Pro275Thr) SNV Pathogenic 14161 rs28928908 GRCh37: 1:43805767-43805767
GRCh38: 1:43340096-43340096
8 MPL NM_005373.2(MPL):c.769C>T (p.Arg257Cys) SNV Pathogenic 14156 rs121913611 GRCh37: 1:43805713-43805713
GRCh38: 1:43340042-43340042
9 MPL NM_005373.2(MPL):c.127C>T (p.Arg43Ter) SNV Pathogenic 371574 rs148434485 GRCh37: 1:43803817-43803817
GRCh38: 1:43338146-43338146
10 MPL NM_005373.2(MPL):c.304C>T (p.Arg102Cys) SNV Pathogenic 644406 rs763568293 GRCh37: 1:43804304-43804304
GRCh38: 1:43338633-43338633
11 MPL NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) SNV Pathogenic 656664 rs1302209849 GRCh37: 1:43814667-43814667
GRCh38: 1:43348996-43348996
12 MPL NM_005373.2(MPL):c.317C>T (p.Pro106Leu) SNV Pathogenic 265248 rs750046020 GRCh37: 1:43804317-43804317
GRCh38: 1:43338646-43338646
13 MPL NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) SNV Pathogenic 660831 rs1570470199 GRCh37: 1:43812491-43812491
GRCh38: 1:43346820-43346820
14 MPL NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) SNV Pathogenic 660904 rs751975712 GRCh37: 1:43812204-43812204
GRCh38: 1:43346533-43346533
15 MPL NC_000001.11:g.(?_43349253)_(43349369_?)del Deletion Pathogenic 665044 GRCh37: 1:43814924-43815040
GRCh38: 1:43349253-43349369
16 MPL NM_005373.2(MPL):c.769C>T (p.Arg257Cys) SNV Pathogenic 14156 rs121913611 GRCh37: 1:43805713-43805713
GRCh38: 1:43340042-43340042
17 MPL NM_005373.3(MPL):c.793del (p.Leu265fs) Deletion Pathogenic 839594 GRCh37: 1:43805735-43805735
GRCh38: 1:43340064-43340064
18 MPL NM_005373.2(MPL):c.391+5G>C SNV Pathogenic 372409 rs752453717 GRCh37: 1:43804396-43804396
GRCh38: 1:43338725-43338725
19 MPL NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) Duplication Pathogenic 834305 GRCh37: 1:43814938-43814939
GRCh38: 1:43349267-43349268
20 MPL NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) SNV Pathogenic 631606 rs754859909 GRCh37: 1:43814627-43814627
GRCh38: 1:43348956-43348956
21 MPL NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) SNV Pathogenic 855899 GRCh37: 1:43812544-43812544
GRCh38: 1:43346873-43346873
22 MPL NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) SNV Pathogenic 947960 GRCh37: 1:43814553-43814553
GRCh38: 1:43348882-43348882
23 MPL NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) SNV Pathogenic 948825 GRCh37: 1:43812567-43812567
GRCh38: 1:43346896-43346896
24 MPL NM_005373.3(MPL):c.268C>T (p.Arg90Ter) SNV Pathogenic 956954 GRCh37: 1:43804268-43804268
GRCh38: 1:43338597-43338597
25 MPL NM_005373.2(MPL):c.127C>T (p.Arg43Ter) SNV Pathogenic 371574 rs148434485 GRCh37: 1:43803817-43803817
GRCh38: 1:43338146-43338146
26 MPL NM_005373.3(MPL):c.455del (p.Ile152fs) Deletion Pathogenic 943961 GRCh37: 1:43805005-43805005
GRCh38: 1:43339334-43339334
27 MPL NM_005373.3(MPL):c.268C>T (p.Arg90Ter) SNV Pathogenic 956954 GRCh37: 1:43804268-43804268
GRCh38: 1:43338597-43338597
28 MPL NM_005373.2(MPL):c.304C>T (p.Arg102Cys) SNV Pathogenic 644406 rs763568293 GRCh37: 1:43804304-43804304
GRCh38: 1:43338633-43338633
29 MPL NM_005373.2(MPL):c.413del (p.Ile138fs) Deletion Pathogenic 528088 rs1343123940 GRCh37: 1:43804963-43804963
GRCh38: 1:43339292-43339292
30 MPL NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) SNV Pathogenic 14164 rs121913615 GRCh37: 1:43815009-43815009
GRCh38: 1:43349338-43349338
31 MPL NM_005373.2(MPL):c.305G>C (p.Arg102Pro) SNV Pathogenic 14158 rs28928907 GRCh37: 1:43804305-43804305
GRCh38: 1:43338634-43338634
32 MPL NM_005373.2(MPL):c.235_236del (p.Leu79fs) Deletion Pathogenic 134822 rs587778514 GRCh37: 1:43804235-43804236
GRCh38: 1:43338564-43338565
33 MPL NM_005373.3(MPL):c.79+2T>A SNV Pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
34 MPL NM_005373.2(MPL):c.378del (p.Phe126fs) Deletion Pathogenic 265249 rs587778515 GRCh37: 1:43804376-43804376
GRCh38: 1:43338705-43338705
35 MPL NM_005373.2(MPL):c.305G>C (p.Arg102Pro) SNV Pathogenic 14158 rs28928907 GRCh37: 1:43804305-43804305
GRCh38: 1:43338634-43338634
36 MPL NM_005373.2(MPL):c.235_236del (p.Leu79fs) Deletion Pathogenic 134822 rs587778514 GRCh37: 1:43804235-43804236
GRCh38: 1:43338564-43338565
37 MPL NM_005373.2(MPL):c.378del (p.Phe126fs) Deletion Pathogenic 265249 rs587778515 GRCh37: 1:43804376-43804376
GRCh38: 1:43338705-43338705
38 MPL NM_005373.3(MPL):c.79+2T>A SNV Pathogenic/Likely pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
39 MPL NM_005373.2(MPL):c.413del (p.Ile138fs) Deletion Likely pathogenic 528088 rs1343123940 GRCh37: 1:43804963-43804963
GRCh38: 1:43339292-43339292
40 MPL NM_005373.3(MPL):c.79+2T>A SNV Likely pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
41 MPL NM_005373.3(MPL):c.1653+1del Deletion Likely pathogenic 632897 rs755257605 GRCh37: 1:43817974-43817974
GRCh38: 1:43352303-43352303
42 MPL NM_005373.3(MPL):c.1165+1G>C SNV Likely pathogenic 834439 GRCh37: 1:43812301-43812301
GRCh38: 1:43346630-43346630
43 MPL NM_005373.2(MPL):c.981-1G>C SNV Likely pathogenic 665962 rs769297582 GRCh37: 1:43812115-43812115
GRCh38: 1:43346444-43346444
44 MPL NM_005373.2(MPL):c.311T>C (p.Phe104Ser) SNV Likely pathogenic 653595 rs1196161699 GRCh37: 1:43804311-43804311
GRCh38: 1:43338640-43338640
45 MPL NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) SNV Likely pathogenic 917671 GRCh37: 1:43803879-43803879
GRCh38: 1:43338208-43338208
46 MPL NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) SNV Likely pathogenic 435889 rs1553128241 GRCh37: 1:43812600-43812600
GRCh38: 1:43346929-43346929
47 MPL NM_005373.3(MPL):c.1192del (p.Trp398fs) Deletion Likely pathogenic 873477 GRCh37: 1:43812489-43812489
GRCh38: 1:43346818-43346818
48 MPL NM_005373.3(MPL):c.269G>A (p.Arg90Gln) SNV Likely pathogenic 812958 rs766638870 GRCh37: 1:43804269-43804269
GRCh38: 1:43338598-43338598
49 MPL NM_005373.3(MPL):c.391G>A (p.Gly131Ser) SNV Likely pathogenic 812959 rs775250202 GRCh37: 1:43804391-43804391
GRCh38: 1:43338720-43338720
50 MPL NM_005373.3(MPL):c.98C>A (p.Ser33Ter) SNV Likely pathogenic 983966 GRCh37: 1:43803788-43803788
GRCh38: 1:43338117-43338117

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

72
# 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 rs119616169
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 rs100615887
9 MPL p.Leu594Trp VAR_073039 rs144881200

Expression for Amegakaryocytic Thrombocytopenia, Congenital

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

Pathways for Amegakaryocytic Thrombocytopenia, Congenital

Pathways related to Amegakaryocytic Thrombocytopenia, Congenital according to KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060

GO Terms for Amegakaryocytic Thrombocytopenia, Congenital

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

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.63 SBDS RPS19 RPL35A
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.58 RPS19 RPL35A RBM8A
3 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.54 SRP72 RPS19 RPL35A
4 embryonic hemopoiesis GO:0035162 9.43 IL3 GATA1
5 erythrocyte differentiation GO:0030218 9.33 RPS19 JAK2 GATA1
6 indolalkylamine biosynthetic process GO:0046219 9.32 ASMT AANAT
7 thrombopoietin-mediated signaling pathway GO:0038163 9.26 THPO MPL
8 melatonin biosynthetic process GO:0030187 8.96 ASMT AANAT
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 8.92 JAK2 IL3 HAX1 GATA1

Sources for Amegakaryocytic Thrombocytopenia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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