LONP1 gene related symptoms and diseases
All the information presented here about the LONP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LONP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| CNS hypomyelination | Very Common - Between 80% and 100% cases |
| Hydroureter | Very Common - Between 80% and 100% cases |
| Spondyloepiphyseal dysplasia | Very Common - Between 80% and 100% cases |
| Abnormality of dental morphology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LONP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Proximal placement of thumb
- Overfolded helix
- Epiphyseal dysplasia
- Bilateral ptosis
- Abnormality of pelvic girdle bone morphology
- Short long bone
- Metaphyseal dysplasia
- Drooling
And 79 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LONP1 gene
Here you will find a list of rare diseases related to the LONP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CODAS SYNDROME
Alternate names
CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome, cerebrooculodentoauriculoskeletal syndrome
Description
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
Most common symptoms of CODAS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about CODAS SYNDROME
Search interest in LONP1
Potential gene panels for LONP1 gene
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
CODAS syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LONP1 gene.
More info about this panel Germany.
LONP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LONP1 gene.
More info about this panel United States.
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUGCT CCDC170 DST AGL ALAD GBA2 GDF2