PML gene related symptoms and diseases
All the information presented here about the PML gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PML gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Entropion | Uncommon - Between 30% and 50% cases |
| Eosinophilia | Uncommon - Between 30% and 50% cases |
| Nephritis | Uncommon - Between 30% and 50% cases |
| Restrictive ventilatory defect | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PML gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Macule
- Corneal erosion
- Acute hepatic failure
- Dysuria
- Abnormal myocardium morphology
- Excessive salivation
- Conjunctivitis
- Abnormality of the pleura
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PML gene
Here you will find a list of rare diseases related to the PML. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STEVENS-JOHNSON SYNDROME
Alternate names
STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type
Description
Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
Most common symptoms of STEVENS-JOHNSON SYNDROME
- Anemia
- Visual impairment
- Fever
- Fatigue
- Dysphagia
More info about STEVENS-JOHNSON SYNDROME
ACUTE PROMYELOCYTIC LEUKEMIA
Alternate names
ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic
Description
Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA
- Leukemia
- Acute promyelocytic leukemia
- Abnormal granulocytopoietic cell morphology
More info about ACUTE PROMYELOCYTIC LEUKEMIA
Search interest in PML
Potential gene panels for PML gene
Leukemia, acute promyelocytic, PML/RARA type (sequence analysis of PML gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PML gene.
More info about this panel Portugal.
PML/RARa fusion gene quantification Panel
Portugal.
By CGC Genetics PML/RARa fusion gene quantification that also includes the following genes: PML RARA
More info about this panel Portugal.
RT-PCR t(15;17)(PML/RARa) Panel
Portugal.
By CGC Genetics RT-PCR t(15;17)(PML/RARa) that also includes the following genes: PML RARA
More info about this panel Portugal.
Detection by FISH of t(15;17) PML/RARA Panel
Portugal.
By CGC Genetics Detection by FISH of t(15;17) PML/RARA that also includes the following genes: PML RARA
More info about this panel Portugal.
Leukemia, acute promyelocytic form Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PML gene.
More info about this panel Germany.
Fluorescent in situ Hybridization - Hematopathology Panel
United States.
By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB
More info about this panel United States.
PML Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PML gene.
More info about this panel United States.
Onco microarray for MDS/AML Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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