MCID: THR103
MIFTS: 28

Thrombocytopenia, Congenital Amegakaryocytic malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Thrombocytopenia, Congenital Amegakaryocytic

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Sources:
46OMIM, 9diseasecard, 30LifeMap Discovery®, 44Novoseek, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 20GeneTests, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Thrombocytopenia, Congenital Amegakaryocytic:

Name: Thrombocytopenia, Congenital Amegakaryocytic 46 9 30
Congenital Amegakaryocytic Thrombocytopenia 30 42 48 61
Thrombocytopenia Congenital Amegakaryocytic 42 20 22
 
Congenital Amegakaryocytic Thrombocytopenic Purpura 42 48
Amegakaryocytic Thrombocytopenia, Congenital 46 44
Camt 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital amegakaryocytic thrombocytopenia:
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: infantile


External Ids:

OMIM46 604498
Orphanet48 3319
MESH via Orphanet34 C535982
ICD10 via Orphanet26 D61.0
UMLS via Orphanet62 C1327915

Summaries for Thrombocytopenia, Congenital Amegakaryocytic

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OMIM:46 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 aplastic anemia, and has symptoms including thrombocytopenia, abnormality of the heme biosynthetic pathway and coarse facial features. An important gene associated with Thrombocytopenia, Congenital Amegakaryocytic is MPL (myeloproliferative leukemia virus oncogene). Affiliated tissues include bone marrow and bone.

Related Diseases for Thrombocytopenia, Congenital Amegakaryocytic

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Diseases in the Thrombocytopenia, Acquired Amegakaryocytic family:

thrombocytopenia, congenital amegakaryocytic

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

idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia10.7
2aplastic anemia10.3
3hematopoietic stem cell transplantation10.3
4pancytopenia10.3

Symptoms for Thrombocytopenia, Congenital Amegakaryocytic

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Symptoms by clinical synopsis from OMIM:

604498

Clinical features from OMIM:

604498

Symptoms:

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

HPO human phenotypes related to Thrombocytopenia, Congenital Amegakaryocytic:

(show all 17)
id Description Frequency HPO Source Accession
1 thrombocytopenia hallmark (90%) HP:0001873
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 coarse facial features typical (50%) HP:0000280
4 short neck typical (50%) HP:0000470
5 melanocytic nevus typical (50%) HP:0000995
6 anemia typical (50%) HP:0001903
7 scoliosis typical (50%) HP:0002650
8 abnormal form of the vertebral bodies typical (50%) HP:0003312
9 short stature typical (50%) HP:0004322
10 abnormality of the cardiac septa occasional (7.5%) HP:0001671
11 decreased skull ossification occasional (7.5%) HP:0004331
12 autosomal recessive inheritance HP:0000007
13 cerebellar vermis hypoplasia HP:0001320
14 thrombocytopenia HP:0001873
15 pancytopenia HP:0001876
16 amegakaryocytic thrombocytopenia HP:0004859
17 megakaryocytopenia HP:0005548

Drugs & Therapeutics for Thrombocytopenia, Congenital Amegakaryocytic

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Drug clinical trials:

Search ClinicalTrials for Thrombocytopenia, Congenital Amegakaryocytic

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), PMID: 10430905

Genetic Tests for Thrombocytopenia, Congenital Amegakaryocytic

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Genetic tests related to Thrombocytopenia, Congenital Amegakaryocytic:

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

Anatomical Context for Thrombocytopenia, Congenital Amegakaryocytic

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MalaCards organs/tissues related to Thrombocytopenia, Congenital Amegakaryocytic:

31
Bone marrow, Bone

Animal Models for Thrombocytopenia, Congenital Amegakaryocytic or affiliated genes

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Publications for Thrombocytopenia, Congenital Amegakaryocytic

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Articles related to Thrombocytopenia, Congenital Amegakaryocytic:

idTitleAuthorsYear
1
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. (16822462)
2006

Variations for Thrombocytopenia, Congenital Amegakaryocytic

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Clinvar genetic disease variations for Thrombocytopenia, Congenital Amegakaryocytic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MPLNM_005373.2(MPL): c.556C> T (p.Gln186Ter)single nucleotide variantPathogenicrs121913610GRCh37Chr 1, 43805106: 43805106
2MPLMPL, 1-BP DEL, 1499TdeletionPathogenic
3MPLNM_005373.2(MPL): c.769C> T (p.Arg257Cys)single nucleotide variantPathogenicrs121913611GRCh37Chr 1, 43805713: 43805713
4MPLNM_005373.2(MPL): c.1904C> T (p.Pro635Leu)single nucleotide variantPathogenicrs121913612GRCh37Chr 1, 43818439: 43818439
5MPLNM_005373.2(MPL): c.305G> C (p.Arg102Pro)single nucleotide variantPathogenicrs28928907GRCh37Chr 1, 43804305: 43804305
6MPLNM_005373.2(MPL): c.1473G> A (p.Trp491Ter)single nucleotide variantPathogenicrs121913613GRCh37Chr 1, 43814938: 43814938
7MPLMPL, IVS10AS, G-T, -1single nucleotide variantPathogenic
8MPLNM_005373.2(MPL): c.823C> A (p.Pro275Thr)single nucleotide variantPathogenicrs28928908GRCh37Chr 1, 43805767: 43805767

Expression for genes affiliated with Thrombocytopenia, Congenital Amegakaryocytic

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

Pathways for genes affiliated with Thrombocytopenia, Congenital Amegakaryocytic

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Compounds for genes affiliated with Thrombocytopenia, Congenital Amegakaryocytic

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GO Terms for genes affiliated with Thrombocytopenia, Congenital Amegakaryocytic

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Sources for Thrombocytopenia, Congenital Amegakaryocytic

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet