LYSINE-SPECIFIC METHYLTRANSFERASE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: MLL/ENL FUSION GENE, INCLUDED
MLL/ABI1 FUSION GENE, INCLUDED
MLL/CIP29 FUSION GENE, INCLUDED
MLL/GPH FUSION GENE, INCLUDED
MLL/LARG FUSION GENE, INCLUDED
MLL/CBL FUSION GENE, INCLUDED
ALL1 GENE
MLL/FBP17 FUSION GENE, INCLUDED
MLL/AF9 FUSION GENE, INCLUDED
CXXC7 MIXED LINEAGE LEUKEMIA, INCLUDED
MLL/SEPT6 FUSION GENE, INCLUDED
MIXED LINEAGE LEUKEMIA GENE
CXXC FINGER PROTEIN 7
MLL/GRAF FUSION GENE, INCLUDED
TRITHORAX, DROSOPHILA, HOMOLOG OF
MLL/PNUTL1 FUSION GENE, INCLUDED
MLL/LPP FUSION GENE, INCLUDED
MLL/CDK6 FUSION GENE, INCLUDED
MLL/AF10 FUSION GENE, INCLUDED
MLL/KIAA1524 FUSION GENE, INCLUDED
MLL/MAML2 FUSION GENE, INCLUDED
MYELOID/LYMPHOID LEUKEMIA GENE
MLL/LAF4 FUSION GENE, INCLUDED
MLL/AF6 FUSION GENE, INCLUDED
MLL/AF4 FUSION GENE, INCLUDED
MLL/LASP1 FUSION GENE, INCLUDED
MLL/GMPS FUSION GENE, INCLUDED
TRX1
MLL1
MLL
HRX
ALL1
MLL/AF15q14 FUSION GENE, INCLUDED
Number of Symptoms 8
OrphanetNr:
OMIM Id: 159555
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0006721) Acute lymphoblastic leukemia 7 / 7739
2
 (HPO:0005531) Biphenotypic acute leukaemia 1 / 7739
3
 (HPO:0004808) Acute myeloid leukemia 14 / 7739
4
 (HPO:0004820) Acute myelomonocytic leukemia 2 / 7739
5
 (HPO:0004845) Acute monocytic leukemia 5 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Mixed-lineage leukemia 1 / 7739
8
 (OMIM) Recurring 11q23 chromosomal translocations 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The MLL gene encodes a DNA-binding protein that methylates histone H3 (see 602810) lys4 (H3K4) and positively regulates expression of target genes, including multiple HOX genes (see 142980). MLL is a frequent target for recurrent translocations in acute ...
Molecular genetics OMIM Jones et al. (2012) performed whole-exome sequencing in 4 patients with hypertrichosis cubiti, short stature, a distinctive facial appearance, and intellectual disability (Wiedemann-Steiner syndrome; 605130), and identified 3 different heterozygous de novo truncating mutations, all within exon 27 ...