CAMT
MCID: THR103
MIFTS: 45

Thrombocytopenia, Congenital Amegakaryocytic (CAMT) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Thrombocytopenia, Congenital Amegakaryocytic

Aliases & Descriptions for Thrombocytopenia, Congenital Amegakaryocytic:

Name: Thrombocytopenia, Congenital Amegakaryocytic 54 13 38
Congenital Amegakaryocytic Thrombocytopenia 38 50 56 66 69
Camt 50 24 56 66
Amegakaryocytic Thrombocytopenia, Congenital 54 24 52
Thrombocytopenia Congenital Amegakaryocytic 50 29
Congenital Amegakaryocytic Thrombocytopenic Purpura 56

Characteristics:

Orphanet epidemiological data:

56
congenital amegakaryocytic thrombocytopenia
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Neonatal; Age of death: infantile;

HPO:

32
thrombocytopenia, congenital amegakaryocytic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604498
Orphanet 56 ORPHA3319
UMLS via Orphanet 70 C1327915
ICD10 via Orphanet 34 D61.0
MESH via Orphanet 43 C535982
MedGen 40 C1327915

Summaries for Thrombocytopenia, Congenital Amegakaryocytic

OMIM : 54 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by... (604498) more...

MalaCards based summary : Thrombocytopenia, Congenital Amegakaryocytic, also known as congenital amegakaryocytic thrombocytopenia, is related to thrombocytopenia and von hippel anomaly, and has symptoms including short neck, scoliosis and coarse facial features. An important gene associated with Thrombocytopenia, Congenital Amegakaryocytic is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow.

UniProtKB/Swiss-Prot : 66 Congenital amegakaryocytic thrombocytopenia: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.

Wikipedia : 71 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited... more...

Related Diseases for Thrombocytopenia, Congenital Amegakaryocytic

Diseases in the Acquired Amegakaryocytic Thrombocytopenia family:

Thrombocytopenia, Congenital Amegakaryocytic

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 thrombocytopenia 10.3
2 von hippel anomaly 10.0 IL3 MPL
3 cytokine receptor deficiency 10.0 IL3 THPO
4 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 10.0 IL3 THPO
5 ectodermal dysplasia, ectrodactyly, and macular dystrophy 9.9 MPL THPO
6 middle cerebral artery infarction 9.9 IL3 THPO
7 early-onset anterior polar cataract 9.9 MPL THPO
8 mental depression 9.9 MPL THPO
9 severe nonproliferative diabetic retinopathy 9.9 MPL THPO
10 gluten allergy 9.9 MPL THPO
11 immunodeficiency 20 9.9 MPL THPO
12 blood coagulation disease 9.9 MPL THPO
13 ocular hyperemia 9.9 MPL THPO
14 haemonchiasis 9.9 MPL THPO
15 myeloproliferative neoplasm 9.9 MPL THPO
16 perichondritis of auricle 9.8 MPL THPO
17 osteoarthritis 9.8 IL3 THPO
18 neuromyelitis optica 9.8 MPL THPO
19 neuronal ceroid-lipofuscinoses 9.8 IL3 THPO
20 peroxisome biogenesis disorder 7a 9.8 IL3 MPL
21 granulomatous hepatitis 9.7 IL3 MPL THPO
22 intestinal impaction 9.7 IL3 MPL THPO
23 erythrocytosis, somatic 9.7 IL3 MPL THPO
24 actinobacillosis 9.7 IL3 MPL THPO
25 tracheal disease 9.7 IL3 MPL THPO
26 basilar artery insufficiency 9.7 IL3 MPL THPO
27 hemophagocytic lymphohistiocytosis 9.7 IL3 MPL THPO
28 drug-induced hepatitis 9.7 IL3 MPL THPO
29 hyperparathyroidism, neonatal 9.7 IL3 MPL THPO
30 leukemia, acute myeloid 9.7 IL3 MPL THPO
31 cranioectodermal dysplasia 1 9.7 IL3 MPL THPO

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



Diseases related to Thrombocytopenia, Congenital Amegakaryocytic

Symptoms & Phenotypes for Thrombocytopenia, Congenital Amegakaryocytic

Symptoms by clinical synopsis from OMIM:

604498

Clinical features from OMIM:

604498

Human phenotypes related to Thrombocytopenia, Congenital Amegakaryocytic:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 Frequent (79-30%) HP:0000470
2 scoliosis 56 32 Frequent (79-30%) HP:0002650
3 coarse facial features 56 32 Frequent (79-30%) HP:0000280
4 short stature 56 32 Frequent (79-30%) HP:0004322
5 anemia 56 32 Frequent (79-30%) HP:0001903
6 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
7 melanocytic nevus 56 32 Frequent (79-30%) HP:0000995
8 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
9 abnormal hemoglobin 56 32 Very frequent (99-80%) HP:0011902
10 abnormality of the cardiac septa 56 32 Occasional (29-5%) HP:0001671
11 decreased skull ossification 56 32 Occasional (29-5%) HP:0004331
12 pancytopenia 32 HP:0001876
13 cerebellar vermis hypoplasia 32 HP:0001320
14 amegakaryocytic thrombocytopenia 32 HP:0004859
15 megakaryocytopenia 32 HP:0005548

Drugs & Therapeutics for Thrombocytopenia, Congenital Amegakaryocytic

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

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
2
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
3
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
4
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
5
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
6
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
9
Vidarabine Approved Phase 2 24356-66-9 32326 21704
10
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
11
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
12
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Acetaminophen Approved Phase 2 103-90-2 1983
15
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
16
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
17
Hydroxyurea Approved Phase 2 127-07-1 3657
18
Promethazine Approved Phase 2 60-87-7 4927
19
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
20
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
21
Mechlorethamine Approved Phase 2 51-75-2 4033
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
24 Alkylating Agents Phase 2,Phase 1
25 Antiemetics Phase 2,Phase 1
26 Antifungal Agents Phase 2
27 Anti-Infective Agents Phase 2
28 Anti-Inflammatory Agents Phase 2,Phase 1
29 Antimetabolites Phase 2,Phase 1
30 Antimetabolites, Antineoplastic Phase 2,Phase 1
31 Antineoplastic Agents, Alkylating Phase 2,Phase 1
32 Antineoplastic Agents, Hormonal Phase 2,Phase 1
33 Antirheumatic Agents Phase 2,Phase 1
34 Antiviral Agents Phase 2
35 Autonomic Agents Phase 2,Phase 1
36 Calcineurin Inhibitors Phase 2,Phase 1
37 Dermatologic Agents Phase 2
38 Folic Acid Antagonists Phase 2
39 Gastrointestinal Agents Phase 2,Phase 1
40 glucocorticoids Phase 2,Phase 1
41 Hormone Antagonists Phase 2,Phase 1
42 Hormones Phase 2,Phase 1
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
44 Immunosuppressive Agents Phase 2,Phase 1
45 Methylprednisolone acetate Phase 2,Phase 1
46 Methylprednisolone Hemisuccinate Phase 2,Phase 1
47 Neuroprotective Agents Phase 2,Phase 1
48 Nucleic Acid Synthesis Inhibitors Phase 2
49 Peripheral Nervous System Agents Phase 2,Phase 1
50 Prednisolone acetate Phase 2,Phase 1

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
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
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
4 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
5 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
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
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
8 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
9 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
10 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
11 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
12 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367

Search NIH Clinical Center for Thrombocytopenia, Congenital Amegakaryocytic

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Thrombocytopenia, Congenital Amegakaryocytic:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Thrombocytopenia, Congenital Amegakaryocytic:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

Genetic Tests for Thrombocytopenia, Congenital Amegakaryocytic

Genetic tests related to Thrombocytopenia, Congenital Amegakaryocytic:

id Genetic test Affiliating Genes
1 Congenital Amegakaryocytic Thrombocytopenia 29
2 Amegakaryocytic Thrombocytopenia, Congenital 24 MPL

Anatomical Context for Thrombocytopenia, Congenital Amegakaryocytic

MalaCards organs/tissues related to Thrombocytopenia, Congenital Amegakaryocytic:

39
Bone, Bone Marrow

Publications for Thrombocytopenia, Congenital Amegakaryocytic

Articles related to Thrombocytopenia, Congenital Amegakaryocytic:

id Title Authors Year
1
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. ( 16822462 )
2006

Variations for Thrombocytopenia, Congenital Amegakaryocytic

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

66
id 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
9 MPL p.Leu594Trp VAR_073039

ClinVar genetic disease variations for Thrombocytopenia, Congenital Amegakaryocytic:

6
id 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 MPL, 1-BP DEL, 1499T deletion Pathogenic
3 MPL NM_005373.2(MPL): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs121913611 GRCh37 Chromosome 1, 43805713: 43805713
4 MPL NM_005373.2(MPL): c.1904C> T (p.Pro635Leu) single nucleotide variant Pathogenic rs121913612 GRCh37 Chromosome 1, 43818439: 43818439
5 MPL NM_005373.2(MPL): c.305G> C (p.Arg102Pro) single nucleotide variant Pathogenic rs28928907 GRCh37 Chromosome 1, 43804305: 43804305
6 MPL NM_005373.2(MPL): c.1473G> A (p.Trp491Ter) single nucleotide variant Pathogenic rs121913613 GRCh37 Chromosome 1, 43814938: 43814938
7 MPL MPL, IVS10AS, G-T, -1 single nucleotide variant Pathogenic
8 MPL NM_005373.2(MPL): c.823C> A (p.Pro275Thr) single nucleotide variant Pathogenic rs28928908 GRCh37 Chromosome 1, 43805767: 43805767
9 MPL NM_005373.2(MPL): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs148434485 GRCh37 Chromosome 1, 43803817: 43803817

Expression for Thrombocytopenia, Congenital Amegakaryocytic

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

Pathways for Thrombocytopenia, Congenital Amegakaryocytic

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 IL3 MPL THPO
2
Show member pathways
12.85 IL3 MPL THPO
3
Show member pathways
12.66 IL3 MPL THPO
4 11.95 IL3 MPL
5 11.5 IL3 THPO
6
Show member pathways
11.37 IL3 MPL THPO
7
Show member pathways
11.25 MPL THPO
8 11.17 IL3 THPO
9 11.14 IL3 THPO
10 10.87 IL3 MPL THPO
11 10.68 MPL THPO

GO Terms for Thrombocytopenia, Congenital Amegakaryocytic

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

id Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 8.96 IL3 MPL
2 thrombopoietin-mediated signaling pathway GO:0038163 8.62 MPL THPO

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

id 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 for Thrombocytopenia, Congenital Amegakaryocytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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