BMPER gene related symptoms and diseases

All the information presented here about the BMPER gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BMPER gene

Symptoms // Phenotype % Cases
Global developmental delay Uncommon - Between 30% and 50% cases
Enlarged thorax Uncommon - Between 30% and 50% cases
Protuberant abdomen Uncommon - Between 30% and 50% cases
Tracheomalacia Uncommon - Between 30% and 50% cases
Enlarged kidney Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BMPER gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Multiple renal cysts
  • Bell-shaped thorax
  • Myelomeningocele
  • Missing ribs
  • Hypoplastic fingernail
  • Disproportionate short-trunk short stature
  • Cystic renal dysplasia
  • Increased nuchal translucency

And 41 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BMPER gene

Here you will find a list of rare diseases related to the BMPER. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DIAPHANOSPONDYLODYSOSTOSIS


Alternate names

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Description

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

Most common symptoms of DIAPHANOSPONDYLODYSOSTOSIS

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


More info about DIAPHANOSPONDYLODYSOSTOSIS

SOURCES: ORPHANET OMIM MESH

ISCHIO-VERTEBRAL SYNDROME


Alternate names

ISCHIO-VERTEBRAL SYNDROME Is also known as ischio-vertebral dysplasia, ischio-spinal dysostosis

Description

Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.


More info about ISCHIO-VERTEBRAL SYNDROME

SOURCES: ORPHANET


Potential gene panels for BMPER gene

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BMPER gene.

More info about this panel

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

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

BMPER Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BMPER gene.

More info about this panel

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

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


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