INPPL1 gene related symptoms and diseases
All the information presented here about the INPPL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to INPPL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypoplastic vertebral bodies | Very Common - Between 80% and 100% cases |
| Skeletal dysplasia | Very Common - Between 80% and 100% cases |
| Flat acetabular roof | Very Common - Between 80% and 100% cases |
| Anterior rib cupping | Very Common - Between 80% and 100% cases |
| Abnormality of the metaphysis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with INPPL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Micromelia
- Narrow chest
- Platyspondyly
- Metaphyseal irregularity
- Disproportionate short-limb short stature
- Polyhydramnios
- Severe short stature
- Vertebral hypoplasia
And 77 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to INPPL1 gene
Here you will find a list of rare diseases related to the INPPL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SCHNECKENBECKEN DYSPLASIA
Alternate names
SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis, slc35d1-cdg, chondrodysplasia, lethal neonatal, with snail-like pelvis
Description
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
Most common symptoms of SCHNECKENBECKEN DYSPLASIA
- Cleft palate
- Cryptorchidism
- Brachydactyly
- Macrocephaly
- Short neck
More info about SCHNECKENBECKEN DYSPLASIA
OPSISMODYSPLASIA
Description
Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
Most common symptoms of OPSISMODYSPLASIA
- Short stature
- Generalized hypotonia
- Hypertelorism
- Muscular hypotonia
- Depressed nasal bridge
More info about OPSISMODYSPLASIA
Search interest in INPPL1
Potential gene panels for INPPL1 gene
Opsismodysplasia (sequence analysis of INPPL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the INPPL1 gene.
More info about this panel Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
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.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Comprehensive panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Skeletal dysplasia core NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core NGS panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
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.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Deletion / Duplication panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Opsismodysplasia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the INPPL1 gene.
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
INPPL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the INPPL1 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.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
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.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
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.
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
United States.
By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10
More info about this panel United States.
SKELETAL DYSPLASIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panel Spain.
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