HYMAI gene related symptoms and diseases
All the information presented here about the HYMAI gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HYMAI gene
Symptoms // Phenotype | % Cases |
---|---|
Dehydration | Very Common - Between 80% and 100% cases |
Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
Generalized myoclonic seizures | Very Common - Between 80% and 100% cases |
Oligohydramnios | Uncommon - Between 30% and 50% cases |
Micrognathia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HYMAI gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cryptorchidism
- High palate
- Hepatomegaly
- Ventricular septal defect
- Patent ductus arteriosus
- Retrognathia
- Umbilical hernia
- Joint laxity
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HYMAI gene
Here you will find a list of rare diseases related to the HYMAI. 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
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 HYMAI
Potential gene panels for HYMAI gene
6q24 MS-MLPA for transient neonatal diabetes Panel
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 panelComprehensive Neonatal Diabetes Mutation Analysis Panel
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 panelUniparental Disomy of Chromosome 6 Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Uniparental Disomy of Chromosome 6 that also includes the following genes: HYMAI PLAGL1
More info about this panelTransient Neonatal Diabetes Mellitus NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Transient Neonatal Diabetes Mellitus NGS Panel that also includes the following genes: HYMAI PLAGL1
More info about this panelHYMAI Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HYMAI gene.
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