TOE1 gene related symptoms and diseases
All the information presented here about the TOE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TOE1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Progressive microcephaly | Very Common - Between 80% and 100% cases |
| Apnea | Very Common - Between 80% and 100% cases |
| Irritability | Very Common - Between 80% and 100% cases |
| Spastic paraplegia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TOE1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the cerebral white matter
- Gliosis
- Chorea
- Nevus
- Delayed myelination
- Esotropia
- Ambiguous genitalia
- Fasciculations
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TOE1 gene
Here you will find a list of rare diseases related to the TOE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PONTOCEREBELLAR HYPOPLASIA TYPE 7
Alternate names
PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome, pch7
Description
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 7
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7
Search interest in TOE1
Potential gene panels for TOE1 gene
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
TOE1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TOE1 gene.
More info about this panel United States.
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