BMP2 gene related symptoms and diseases

All the information presented here about the BMP2 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 BMP2 gene

Symptoms // Phenotype % Cases
Short stature Common - Between 50% and 80% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Wolff-Parkinson-White syndrome Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BMP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Osteopenia
  • Brachydactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Rarely - Less than 30% cases

  • Elevated transferrin saturation
  • Full cheeks
  • Abnormality of the skeletal system
  • High palate

And 136 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BMP2 gene

Here you will find a list of rare diseases related to the BMP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRACHYDACTYLY TYPE A2

Alternate names

BRACHYDACTYLY TYPE A2 Is also known as brachydactyly, mohr-wriedt type, brachymesophalangy ii, mohr-wriedt type brachydactyly

Description

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

Most common symptoms of BRACHYDACTYLY TYPE A2

  • Short stature
  • Brachydactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Short foot


More info about BRACHYDACTYLY TYPE A2

SOURCES: OMIM ORPHANET MESH

HEMOCHROMATOSIS, TYPE 1; HFE1

Alternate names

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe, hemochromatosis, hereditary, hemochromatosis, hh

Description

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

Most common symptoms of HEMOCHROMATOSIS, TYPE 1; HFE1

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


More info about HEMOCHROMATOSIS, TYPE 1; HFE1

SOURCES: ORPHANET OMIM

20P12.3 MICRODELETION SYNDROME

Alternate names

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3), monosomy 20p12.3

Description

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

Most common symptoms of 20P12.3 MICRODELETION SYNDROME

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


More info about 20P12.3 MICRODELETION SYNDROME

SOURCES: ORPHANET

SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Description

Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Most common symptoms of SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

SOURCES: OMIM


Potential gene panels for BMP2 gene

Brachydactyly type A2 (sequence analysis of BMP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BMP2 gene.

More info about this panel
Portugal.

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel
Portugal.

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel
Portugal.

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel
United States.

Congenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection that also includes the following genes: BDNF BMP2 EDN3 PHOX2A ASCL1 PHOX2B RET

More info about this panel
United States.

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.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Brachydactyly, type A2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BMP2 gene.

More info about this panel
Germany.

Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel

Germany.

By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1

More info about this panel
Germany.

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel
United States.

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel
United States.

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel
United States.

BMP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BMP2 gene.

More info about this panel
United States.

Brachydactyly / Syndactyly Panel Panel

Finland.

By Blueprint Genetics Brachydactyly / Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TP63 CHSY1 ESCO2 CCNQ DHCR7 GDF5

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.

BRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE) Panel

Spain.

By Laboratorio de Genetica Clinica SL BRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE) that also includes the following genes: BMP2 BMPR1B GDF5

More info about this panel
Spain.

Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes Panel

Spain.

By Reference Laboratory Genetics Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes that also includes the following genes: BMP2 BMPR1B GDF5

More info about this panel
Spain.

Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TBX15 WNT7A TP63 CHSY1 ESCO2 GDF5

More info about this panel
Spain.

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