KEGG DISEASE: Congenital amegakaryocytic thrombocytopenia

KEGG

DISEASE: Congenital amegakaryocytic thrombocytopenia

Entry

H00227                      Disease

Name

Congenital amegakaryocytic thrombocytopenia

Description

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. Recently, it has been reported that recessive mutations in the THPO gene are a novel cause of this disease.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B64  Thrombocytopenia
    H00227  Congenital amegakaryocytic thrombocytopenia

Pathway

Cytokine-cytokine receptor interaction

JAK-STAT signaling pathway

Gene

(CAMT1) MPL [HSA:4352] [KO:K05082]
(CAMT2) THPO [HSA:7066] [KO:K06854]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Ballmaier M, Germeshausen M

Title

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Journal

Br J Haematol 146:3-16 (2009)
DOI:10.1111/j.1365-2141.2009.07706.x

Reference

Authors

Geddis AE

Title

Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.

Journal

Hematol Oncol Clin North Am 23:321-31 (2009)
DOI:10.1016/j.hoc.2009.01.012

Reference

Authors

Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL

Title

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Journal

Haematologica 92:1186-93 (2007)
DOI:10.3324/haematol.11425

Reference

Authors

Geddis AE

Title

Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.

Journal

Semin Hematol 43:196-203 (2006)
DOI:10.1053/j.seminhematol.2006.04.003

Reference

PMID:10077649 (CAMT1)

Authors

Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, Hara T

Title

Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia.

Journal

Proc Natl Acad Sci U S A 96:3132-6 (1999)
DOI:10.1073/pnas.96.6.3132

Reference

PMID:24085763 (CAMT2)

Authors

Dasouki MJ, Rafi SK, Olm-Shipman AJ, Wilson NR, Abhyankar S, Ganter B, Furness LM, Fang J, Calado RT, Saadi I

Title

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

Journal

Blood 122:3440-9 (2013)
DOI:10.1182/blood-2012-12-473538

LinkDB

» Japanese version

DBGET integrated database retrieval system