CAMT
MCID: CNG052
MIFTS: 45

Congenital Amegakaryocytic Thrombocytopenia (CAMT) malady

Blood category

Summaries for Congenital Amegakaryocytic Thrombocytopenia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder. more...

MalaCards: Congenital Amegakaryocytic Thrombocytopenia, also known as thrombocytopenia congenital amegakaryocytic, is related to thrombocytopenia and aplastic anemia, and has symptoms including short neck, scoliosis and pigmented naevi/naevus pigmentosus/lentigo. An important gene associated with Congenital Amegakaryocytic Thrombocytopenia is MPL (myeloproliferative leukemia virus oncogene), and among its related pathways are Jak-STAT signaling pathway and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The compounds megapoietin and anagrelide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and t cells, and related mouse phenotype immune system.

Description from OMIM:47 604498

Aliases & Classifications for Congenital Amegakaryocytic Thrombocytopenia

Sources:
43NIH Rare Diseases, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
congenital amegakaryocytic thrombocytopenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital amegakaryocytic thrombocytopenia 43 49 31 61
thrombocytopenia congenital amegakaryocytic 43 20 22
thrombocytopenia, congenital amegakaryocytic 47
amegakaryocytic thrombocytopenia, congenital 45
camt 43


External Ids:

OMIM47 604498
MESH via Orphanet36 C535982
ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet58 234482009
UMLS via Orphanet62 C1327915

Related Diseases for Congenital Amegakaryocytic Thrombocytopenia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Amegakaryocytic Thrombocytopenia family:

thrombocytopenia, acquired amegakaryocytic

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.6IL3, MPL, THPO
2aplastic anemia30.3IL3, MPL, THPO
3pancytopenia30.3THPO, IL3, MPL
4thrombocytopenia 210.2
5hematopoietic stem cell transplantation10.2
6thrombocytopenia-absent radius syndrome10.0THPO
7galactosemia10.0THPO
8erythrocytosis10.0IL3, MPL
9hemorrhagic thrombocythemia10.0MPL, THPO
10thrombocytopenia due to platelet alloimmunization10.0MPL, THPO
11myelofibrosis10.0THPO, MPL
12severe congenital neutropenia10.0THPO, IL3
13hepatoblastoma10.0THPO, MPL
14megakaryocytic leukemia10.0THPO, IL3
15autoimmune thrombocytopenic purpura10.0THPO, MPL
16chronic myeloproliferative disease10.0THPO, MPL
17splenomegaly10.0MPL, THPO
18diamond-blackfan anemia 110.0IL3, THPO
19severe combined immunodeficiency10.0IL3, IL18R1
20atherosclerosis10.0IL18R1
21precursor t-cell acute lymphoblastic leukemia10.0IL18R1, IL3
22hodgkin's lymphoma10.0IL3, IL18R1
23refractory anemia10.0THPO, MPL, IL3
24thrombocytosis10.0MPL, THPO, IL3
25polycythemia vera10.0IL3, THPO, MPL
26hematologic cancer10.0MPL, IL3, THPO
27myeloma10.0IL3, IL18R1
28acute erythroid leukemia10.0IL3, THPO, MPL
29polycythemia10.0THPO, MPL, IL3
30chronic myeloid leukemia10.0THPO, IL3, MPL
31neutropenia10.0THPO, MPL, IL3
32chronic lymphocytic leukemia10.0THPO, IL18R1
33myelodysplastic syndromes10.0THPO, MPL, IL3
34multiple sclerosis10.0THPO, IL18R1
35primary hyperoxaluria10.0IL18R1, THPO
36deficiency anemia10.0THPO, MPL, IL3
37non-small cell lung carcinoma10.0THPO, IL3, IL18R1
38ipex syndrome10.0THPO, IL18R1, MPL
39myeloproliferative disorder10.0MPL, IL18R1, THPO, IL3
40acute lymphocytic leukemia10.0IL18R1, MPL, IL3, THPO
41acute leukemia10.0MPL, THPO, IL3, IL18R1
42myeloid leukemia10.0IL3, THPO, IL18R1, MPL

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



Diseases related to congenital amegakaryocytic thrombocytopenia

Clinical Features for Congenital Amegakaryocytic Thrombocytopenia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

604498

Clinical synopsis from OMIM:

604498

Symptoms:

49 (show all 12)
  • short neck
  • scoliosis
  • pigmented naevi/naevus pigmentosus/lentigo
  • coarse face
  • abnormal vertebral size/shape
  • short stature/dwarfism/nanism
  • anaemia
  • x-linked recessive inheritance
  • hemoglobinosis/hemoglobinopathy
  • thrombocytopenia/thrombopenia
  • cardiac septal defect
  • poorly ossified skull/calvarium

Drugs & Therapeutics for Congenital Amegakaryocytic Thrombocytopenia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Congenital Amegakaryocytic Thrombocytopenia

Drug clinical trials:

Search ClinicalTrials for Congenital Amegakaryocytic Thrombocytopenia

Search NIH Clinical Center for Congenital Amegakaryocytic Thrombocytopenia

Search CenterWatch for Congenital Amegakaryocytic Thrombocytopenia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-cell-based therapeutic approaches for Congenital Amegakaryocytic Thrombocytopenia:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Congenital Amegakaryocytic Thrombocytopenia:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Congenital Amegakaryocytic Thrombocytopenia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Congenital Amegakaryocytic Thrombocytopenia:

id Genetic test Affiliating Genes
1 Amegakaryocytic Thrombocytopenia, Congenital20 MPL
2 Congenital Amegakaryocytic Thrombocytopenia22

Anatomical Context for Congenital Amegakaryocytic Thrombocytopenia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Amegakaryocytic Thrombocytopenia:

33
Bone marrow, Myeloid, T cells

Animal Models for Congenital Amegakaryocytic Thrombocytopenia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Congenital Amegakaryocytic Thrombocytopenia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0THPO, IL3, IL18R1, MPL

Publications for Congenital Amegakaryocytic Thrombocytopenia

Sources:
51PubMed
See all sources

Articles related to Congenital Amegakaryocytic Thrombocytopenia:

(show all 47)
idTitleAuthorsYear
1
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature. (24119002)
2014
2
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. (23908116)
2013
3
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. (23625800)
2013
4
A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1. (23443295)
2013
5
T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia. (21785471)
2012
6
Congenital amegakaryocytic thrombocytopenia. (21337678)
2011
7
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. (21489838)
2011
8
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. (22102270)
2011
9
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. (21162090)
2011
10
Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. (21151552)
2010
11
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
12
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature. (19490489)
2010
13
Advances in the understanding of congenital amegakaryocytic thrombocytopenia. (19388932)
2009
14
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (19327586)
2009
15
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. (19302922)
2009
16
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). (18519517)
2008
17
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. (18422784)
2008
18
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. (18240171)
2008
19
Congenital amegakaryocytic thrombocytopenia (CAMT): a case report with review of literature. (17883175)
2007
20
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. (17666371)
2007
21
Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. (18090929)
2007
22
Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation. (17034029)
2007
23
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. (17054430)
2006
24
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. (16470591)
2006
25
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (16822462)
2006
26
Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor. (15667621)
2005
27
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. (15782403)
2005
28
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. (16351641)
2005
29
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. (16219544)
2005
30
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT). (14968137)
2004
31
Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. (12799278)
2003
32
Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia. (11902750)
2002
33
From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia]. (11913111)
2002
34
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. (11133753)
2001
35
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. (11392330)
2001
36
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. (10971406)
2000
37
Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia]. (11187928)
2000
38
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). (11071383)
2000
39
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. (10077649)
1999
40
Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. (9029014)
1997
41
Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. (7670411)
1995
42
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. (8461459)
1993
43
Congenital amegakaryocytic thrombocytopenia: an intrinsic hematopoietic stem cell defect. (2378417)
1990
44
A case report of congenital amegakaryocytic thrombocytopenia. (6866544)
1983
45
Congenital amegakaryocytic thrombocytopenia. (5689748)
1968
46
A case of congenital amegakaryocytic thrombocytopenia with leukemoid blood picture and congenital deformities. (13662107)
1959
47
Congenital amegakaryocytic thrombocytopenia with congenital deformities and a leukemoid blood picture in the newborn. (13436513)
1957

Genetic Variations for Congenital Amegakaryocytic Thrombocytopenia

Expression for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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

Pathways for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

Sources:
30KEGG, 53R&D Systems, 12EMD Millipore, 4Cell Signaling Technology, 54Reactome, 52QIAGEN
See all sources

Pathways related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MPL, IL3
2
Hide members
9.3MPL, THPO
3
Development Thrombopoetin signaling via JAK-STAT pathway
Hide members
9.3MPL, THPO
4
Hide members
9.3MPL, THPO
59.3IL3, THPO
6
Hide members
8.6MPL, IL18R1, IL3
7
Hide members
8.5IL18R1, IL3, THPO
8
Hide members
8.5IL18R1, IL3, THPO
9
Hide members
8.5IL18R1, IL3, THPO
10
Hide members
8.0IL18R1, MPL, THPO, IL3

Compounds for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 24HMDB
See all sources

Compounds related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1megapoietin459.8MPL, THPO
2anagrelide45 1110.7MPL, THPO
3mafosfamide459.7IL3, THPO
4pixy321459.7THPO, IL3
5amifostine45 1110.7THPO, IL3
6gm-csf45 2910.7THPO, IL3
7ifosfamide45 1110.7IL3, THPO
8leucovorin45 50 1111.7IL3, THPO
9methylcellulose459.6IL3, THPO
10thromboxane45 2410.6MPL, THPO
11carboplatin45 50 1111.6THPO, IL3
12hydroxyurea45 50 1111.5IL3, THPO
13cytarabine45 50 1111.4IL3, THPO
14ivig459.4IL3, IL18R1
15neopterin459.4IL3, IL18R1
16clozapine45 29 50 1112.3IL3, IL18R1
17fmlp459.3THPO, IL3
18imatinib45 50 1111.2THPO, IL3
195fluorouracil459.2THPO, IL3, MPL
20agar459.2MPL, IL3, THPO
215-aza-2deoxycytidine459.0THPO, IL3
22filgrastim45 119.9THPO, IL3, IL18R1
23polyethylene glycol458.9THPO, IL18R1, MPL
24rantes458.9THPO, IL3, IL18R1
25polysaccharide458.9IL18R1, IL3, THPO
26rapamycin458.9THPO, IL3, IL18R1
27ly294002458.9IL18R1, IL3, THPO
28thymidine45 249.8THPO, IL3, IL18R1
29heparin45 29 11 2411.8THPO, IL3, IL18R1
30adenylate458.8THPO, IL3, IL18R1
31threonine458.8IL3, IL18R1, MPL
32dexamethasone45 50 29 1111.7IL18R1, IL3, THPO
33vegf458.7THPO, IL18R1, MPL
34estrogen458.6THPO, IL3, IL18R1
35retinoic acid45 249.5IL18R1, IL3, THPO
36gp 130458.4THPO, IL3, IL18R1, MPL
37phosphatidylinositol458.4MPL, IL18R1, IL3, THPO
38alanine458.4THPO, IL3, IL18R1, MPL
39cysteine458.4MPL, IL18R1, IL3, THPO
40tyrosine458.3MPL, IL18R1, IL3, THPO

GO Terms for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

Sources:
16Gene Ontology
See all sources

Molecular functions related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.3THPO, IL3
2growth factor activityGO:0080839.0THPO, IL3

Products for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Amegakaryocytic Thrombocytopenia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet