MECOM gene related symptoms and diseases

Alternate names

MYELODYSPLASTIC SYNDROME; MDS Is also known as myelodysplastic syndrome, susceptibility to, included

Description

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

Most common symptoms of MYELODYSPLASTIC SYNDROME; MDS

• Anemia
• Leukemia
• Myelodysplasia
• Myeloid leukemia
• Acute myeloid leukemia

SOURCES: OMIM ORPHANET

Alternate names

ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2) Is also known as aml with inv3(q21;q26.2) or t(3;3)(q21;q26.2)

Description

Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.

SOURCES: ORPHANET

Description

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (OMIM ).

Most common symptoms of RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2

• Hearing impairment
• Sensorineural hearing impairment
• Anemia
• Thrombocytopenia
• Clinodactyly

SOURCES: OMIM

Alternate names

RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME Is also known as ctrus, atrus syndrome, thrombocytopenia, congenital, with radioulnar synostosis, rusat

Description

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).

Most common symptoms of RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME

• Sensorineural hearing impairment
• Syndactyly
• Thrombocytopenia
• Clinodactyly
• Clinodactyly of the 5th finger

SOURCES: ORPHANET OMIM