TRMT10A gene related symptoms and diseases
All the information presented here about the TRMT10A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRMT10A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Wide nose | Uncommon - Between 30% and 50% cases |
| Dorsocervical fat pad | Uncommon - Between 30% and 50% cases |
| Hyperinsulinemic hypoglycemia | Uncommon - Between 30% and 50% cases |
| Maternal diabetes | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TRMT10A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ketoacidosis
- Absence seizures
- Insulin resistance
- Primary amenorrhea
- Amenorrhea
- Delayed puberty
- Seizures
- Joint laxity
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TRMT10A gene
Here you will find a list of rare diseases related to the TRMT10A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1
Alternate names
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm
Most common symptoms of MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1
SOURCES: OMIM
PRIMARY MICROCEPHALY-MILD INTELLECTUAL DISABILITY-YOUNG-ONSET DIABETES SYNDROME
Description
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.
More info about PRIMARY MICROCEPHALY-MILD INTELLECTUAL DISABILITY-YOUNG-ONSET DIABETES SYNDROME
SOURCES: ORPHANET
Search interest in TRMT10A
Potential gene panels for TRMT10A gene
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panel United States.
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
TRMT10A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRMT10A gene.
More info about this panel United States.
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