PLEKHM1 gene related symptoms and diseases
All the information presented here about the PLEKHM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLEKHM1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pancytopenia | Very Common - Between 80% and 100% cases |
| Increased bone mineral density | Very Common - Between 80% and 100% cases |
| Osteopetrosis | Very Common - Between 80% and 100% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Osteopenia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PLEKHM1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Premature loss of teeth
- Thickened calvaria
- Agenesis of permanent teeth
- Hyperostosis
- Rickets
- Recurrent fractures
- Pectus carinatum
- Hepatosplenomegaly
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLEKHM1 gene
Here you will find a list of rare diseases related to the PLEKHM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INTERMEDIATE OSTEOPETROSIS
Alternate names
INTERMEDIATE OSTEOPETROSIS Is also known as autosomal recessive intermediate osteopetrosis, osteopetrosis, autosomal recessive, intermediate form
Description
Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
Most common symptoms of INTERMEDIATE OSTEOPETROSIS
- Seizures
- Short stature
- Pain
- Pancytopenia
- Increased bone mineral density
More info about INTERMEDIATE OSTEOPETROSIS
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3
Description
Autosomal dominant osteopetrosis-3 is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly (Bo et al., 2016).For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (OMIM ).
Most common symptoms of OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3
- Anemia
- Fatigue
- Headache
- Osteoporosis
- Osteopenia
More info about OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3
SOURCES: OMIM
Search interest in PLEKHM1
Potential gene panels for PLEKHM1 gene
Osteopetrosis, autosomal recessive 6 (sequence analysis of PLEKHM1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLEKHM1 gene.
More info about this panel Portugal.
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK
More info about this panel United States.
Osteopetrosis, autosomal recessive 6 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis, autosomal recessive 6 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis, autosomal recessive 6 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis, autosomal recessive 6 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis, autosomal recessive 6 NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis, autosomal recessive 6 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis autosomal recessive type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PLEKHM1 gene.
More info about this panel Germany.
Skeletal dysplasia with increased bone density Panel Panel
Germany.
By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panel Germany.
OSTEOPETROSIS Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOPETROSIS that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel Spain.
PLEKHM1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
Osteopetrosis NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis NGS and Deletion/Duplication Panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel United States.
PLEKHM1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PLEKHM1 gene.
More info about this panel United States.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOPETROSIS, AUTOSOMAL RECESSIVE that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1
More info about this panel Spain.
OSTEOPETROSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOPETROSIS NGS PANEL that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel Spain.
Autosomal Recessive Malignant Osteopetrosis Type 6 , Sequencing PLEKHM1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PLEKHM1 gene.
More info about this panel Spain.
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5
More info about this panel Spain.
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