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.

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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

SOURCES: ORPHANET 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


Potential gene panels for HYMAI 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

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

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

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

HYMAI Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HYMAI gene.

More info about this panel


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