PLAGL1 gene related symptoms and diseases
All the information presented here about the PLAGL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLAGL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
| Dehydration | Very Common - Between 80% and 100% cases |
| Macroglossia | Common - Between 50% and 80% cases |
| Transient neonatal diabetes mellitus | Common - Between 50% and 80% cases |
| Generalized myoclonic seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PLAGL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Diabetes mellitus
- Hyperglycemia
- Failure to thrive
Not very common - Between 30% and 50% cases
- Abdominal wall defect
- Umbilical hernia
- Glucose intolerance
- Severe intrauterine growth retardation
- Severe failure to thrive
And 60 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLAGL1 gene
Here you will find a list of rare diseases related to the PLAGL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TRANSIENT NEONATAL DIABETES MELLITUS
Alternate names
TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3, tndm
Description
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.
Most common symptoms of TRANSIENT NEONATAL DIABETES MELLITUS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Failure to thrive
More info about TRANSIENT NEONATAL DIABETES MELLITUS
DIABETES MELLITUS, TRANSIENT NEONATAL, 1
Alternate names
DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1, dmtn, tndm
Description
Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
Most common symptoms of DIABETES MELLITUS, TRANSIENT NEONATAL, 1
- Growth delay
- Hypertelorism
- Failure to thrive
- Intrauterine growth retardation
- Talipes equinovarus
More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1
SOURCES: OMIM
PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6
Alternate names
PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat
Description
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Most common symptoms of PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6
- Micrognathia
- Cryptorchidism
- High palate
- Hepatomegaly
- Intrauterine growth retardation
More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6
SOURCES: ORPHANET
Search interest in PLAGL1
Potential gene panels for PLAGL1 gene
6q24 MS-MLPA for transient neonatal diabetes Panel
United States.
By Genetic Services Laboratory University of Chicago 6q24 MS-MLPA for transient neonatal diabetes that also includes the following genes: HYMAI PLAGL1
More info about this panel United States.
Comprehensive Neonatal Diabetes Mutation Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3
More info about this panel United States.
Test for Diabetes Mellitus, 6q24-Related Transient Neonatal Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PLAGL1 gene.
More info about this panel Germany.
Uniparental Disomy of Chromosome 6 Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Uniparental Disomy of Chromosome 6 that also includes the following genes: HYMAI PLAGL1
More info about this panel United States.
Transient Neonatal Diabetes Mellitus NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Transient Neonatal Diabetes Mellitus NGS Panel that also includes the following genes: HYMAI PLAGL1
More info about this panel United States.
PLAGL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLAGL1 gene.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LIPA ROBO1 PIGT AKR1D1 CYP2B6 RSPH4A PI4KA