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.

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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

SOURCES: ORPHANET OMIM MESH

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



More info about BILINEAL ACUTE LEUKEMIA

SOURCES: ORPHANET




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