KMT2A gene related symptoms and diseases
All the information presented here about the KMT2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KMT2A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Rare - less than 30% cases |
| Macrotia | Rare - less than 30% cases |
| Long philtrum | Rare - less than 30% cases |
| Pectus excavatum | Rare - less than 30% cases |
| Delayed skeletal maturation | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with KMT2A gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Clinodactyly of the 5th finger
- Brachycephaly
- Gastroesophageal reflux
- Generalized hirsutism
- Seizures
- Anxiety
- Long eyelashes
- Neurological speech impairment
And 157 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KMT2A gene
Here you will find a list of rare diseases related to the KMT2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CORNELIA DE LANGE SYNDROME
Alternate names
CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome
Description
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).
Most common symptoms of CORNELIA DE LANGE SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Nystagmus
More info about CORNELIA DE LANGE SYNDROME
SOURCES: ORPHANET
WIEDEMANN-STEINER SYNDROME
Alternate names
WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay, hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Description
Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.
Most common symptoms of WIEDEMANN-STEINER SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about WIEDEMANN-STEINER SYNDROME
PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
Alternate names
PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as b-all, precursor b-cell acute lymphocytic leukemia, precursor b-cell acute lymphocytic leukemia/lymphoma, precursor b-cell acute lymphoblastic leukemia/lymphoma
More info about PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
SOURCES: ORPHANET
ACUTE BIPHENOTYPIC LEUKEMIA
Description
Acute biphenotypic leukemia is a rare, acute myeloid leukemia characterized by a single blast cells population expressing both myeloid and lymphoid immunophenotypic markers. Clinically, it present with fatigue, bleeding, and infection due to anemia, thrombocytopenia, low-functioning white cells, and general immune suppression that occurs with most leukemias.
More info about ACUTE BIPHENOTYPIC LEUKEMIA
SOURCES: ORPHANET
ACUTE MYELOID LEUKEMIA WITH 11Q23 ABNORMALITIES
Alternate names
ACUTE MYELOID LEUKEMIA WITH 11Q23 ABNORMALITIES Is also known as aml with 11q23 abnormalities
Description
Acute myeloid leukemia with 11q23 abnormalities is a tumor of hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.
More info about ACUTE MYELOID LEUKEMIA WITH 11Q23 ABNORMALITIES
SOURCES: ORPHANET
ACUTE UNDIFFERENTIATED LEUKEMIA
Alternate names
ACUTE UNDIFFERENTIATED LEUKEMIA Is also known as acute myeloid leukemia, minimal differentiation, fab m0
Description
Acute undifferentiated leukemia is a rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).
More info about ACUTE UNDIFFERENTIATED LEUKEMIA
SOURCES: ORPHANET
ACUTE MYELOID LEUKEMIA WITH T(9;11)(P22;Q23)
Alternate names
ACUTE MYELOID LEUKEMIA WITH T(9;11)(P22;Q23) Is also known as aml with t(9;11)(p22;q23)
More info about ACUTE MYELOID LEUKEMIA WITH T(9;11)(P22;Q23)
SOURCES: ORPHANET
BILINEAL ACUTE LEUKEMIA
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