CAMT
MCID: CNG052
MIFTS: 45

Congenital Amegakaryocytic Thrombocytopenia (CAMT) malady

Blood diseases category

Summaries for Congenital Amegakaryocytic Thrombocytopenia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 pancytopenia, and has symptoms including poorly ossified skull/calvarium, cardiac septal defect and thrombocytopenia/thrombopenia. 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 and bone, and related mouse phenotype immune system.

Description from OMIM:46 604498

Aliases & Classifications for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital amegakaryocytic thrombocytopenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital amegakaryocytic thrombocytopenia 42 48 30 60
thrombocytopenia congenital amegakaryocytic 42 20 22
thrombocytopenia, congenital amegakaryocytic 46
amegakaryocytic thrombocytopenia, congenital 44
camt 42


External Ids:

OMIM46 604498
MESH via Orphanet35 C535982
ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet57 234482009
UMLS via Orphanet61 C1327915

Related Diseases for Congenital Amegakaryocytic Thrombocytopenia

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

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



Diseases related to congenital amegakaryocytic thrombocytopenia

Clinical Features for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

604498

Clinical synopsis from OMIM:

604498

Symptoms:

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

Drugs & Therapeutics for Congenital Amegakaryocytic Thrombocytopenia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Congenital Amegakaryocytic Thrombocytopenia:

32
Bone marrow, Bone

Animal Models for Congenital Amegakaryocytic Thrombocytopenia or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Congenital Amegakaryocytic Thrombocytopenia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0THPO, IL3, IL18R1, MPL

Publications for Congenital Amegakaryocytic Thrombocytopenia

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Genetic Variations for Congenital Amegakaryocytic Thrombocytopenia

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Expression for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 52R&D Systems, 12EMD Millipore, 4Cell Signaling Technology, 53Reactome, 51QIAGEN
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Pathways related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Congenital Amegakaryocytic Thrombocytopenia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1megapoietin449.8MPL, THPO
2anagrelide44 1110.7MPL, THPO
3mafosfamide449.7IL3, THPO
4pixy321449.7THPO, IL3
5amifostine44 1110.7THPO, IL3
6gm-csf44 2810.7THPO, IL3
7ifosfamide44 1110.7IL3, THPO
8leucovorin44 49 1111.7IL3, THPO
9methylcellulose449.6IL3, THPO
10thromboxane44 2410.6MPL, THPO
11carboplatin44 49 1111.6THPO, IL3
12hydroxyurea44 49 1111.5IL3, THPO
13cytarabine44 49 1111.4IL3, THPO
14ivig449.4IL3, IL18R1
15neopterin449.4IL3, IL18R1
16clozapine44 28 49 1112.3IL3, IL18R1
17fmlp449.3THPO, IL3
18imatinib44 49 1111.2THPO, IL3
195fluorouracil449.2THPO, IL3, MPL
20agar449.2MPL, IL3, THPO
215-aza-2deoxycytidine449.0THPO, IL3
22filgrastim44 119.9THPO, IL3, IL18R1
23polyethylene glycol448.9THPO, IL18R1, MPL
24rantes448.9THPO, IL3, IL18R1
25polysaccharide448.9IL18R1, IL3, THPO
26rapamycin448.9THPO, IL3, IL18R1
27ly294002448.9IL18R1, IL3, THPO
28thymidine44 249.8THPO, IL3, IL18R1
29heparin44 28 11 2411.8THPO, IL3, IL18R1
30adenylate448.8THPO, IL3, IL18R1
31threonine448.8IL3, IL18R1, MPL
32dexamethasone44 49 28 1111.7IL18R1, IL3, THPO
33vegf448.7THPO, IL18R1, MPL
34estrogen448.6THPO, IL3, IL18R1
35retinoic acid44 249.5IL18R1, IL3, THPO
36gp 130448.4THPO, IL3, IL18R1, MPL
37phosphatidylinositol448.4MPL, IL18R1, IL3, THPO
38alanine448.4THPO, IL3, IL18R1, MPL
39cysteine448.4MPL, IL18R1, IL3, THPO
40tyrosine448.3MPL, IL18R1, IL3, THPO

GO Terms for genes affiliated with Congenital Amegakaryocytic Thrombocytopenia

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Amegakaryocytic Thrombocytopenia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet