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
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.
Most common symptoms of HEMOCHROMATOSIS, TYPE 1; HFE1
- Ataxia
- Neoplasm
- Pain
- Anemia
- Hepatomegaly
More info about HEMOCHROMATOSIS, TYPE 1; HFE1
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
Search interest in BMP2
Potential gene panels for BMP2 gene
Brachydactyly type A2 (sequence analysis of BMP2 gene) Panel
By CGC Genetics
This panel specifically test the BMP2 gene.
More info about this panelHemochromatosis (NGS panel for 8 genes) Panel
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 panelHemochromatosis (NGS panel for 8 genes) Panel
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 panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
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 panelCongenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the BMP2 gene.
More info about this panelCongenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection Panel
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 panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the BMP2 gene.
More info about this panelShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the BMP2 gene.
More info about this panelShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Panel
By Connective Tissue Gene Tests
This panel specifically test the BMP2 gene.
More info about this panelShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the BMP2 gene.
More info about this panelShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the BMP2 gene.
More info about this panelShort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the BMP2 gene.
More info about this panelBrachydactyly, type A2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the BMP2 gene.
More info about this panelIsolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
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 panelLimb Malformation: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelBMP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BMP2 gene.
More info about this panelBrachydactyly / Syndactyly Panel Panel
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 panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelBRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE) Panel
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 panelBrachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes Panel
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 panelBrachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel
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
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