BMPR1B gene related symptoms and diseases

All the information presented here about the BMPR1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BMPR1B gene

Symptoms // Phenotype % Cases
Brachydactyly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Clinodactyly of the 5th finger Common - Between 50% and 80% cases
Short middle phalanx of finger Common - Between 50% and 80% cases
Disproportionate short-limb short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BMPR1B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Aplasia/Hypoplasia involving the metacarpal bones
  • Short 2nd finger
  • Tarsal synostosis
  • Talipes equinovarus
  • Short foot
  • Rarely - Less than 30% cases

  • Intellectual disability
  • Hypoplasia of the ulna
  • Short proximal phalanx of thumb

And 189 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BMPR1B gene

Here you will find a list of rare diseases related to the BMPR1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME


Alternate names

FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME Is also known as du pan syndrome

Description

Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

Most common symptoms of FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

  • Short stature
  • Brachydactyly
  • Syndactyly
  • Severe short stature
  • Finger syndactyly


More info about FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

SOURCES: ORPHANET OMIM MESH

ACROMESOMELIC DYSPLASIA, GREBE TYPE


Alternate names

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria, chondrodysplasia, grebe type

Description

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

Most common symptoms of ACROMESOMELIC DYSPLASIA, GREBE TYPE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

SOURCES: ORPHANET OMIM

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

BRACHYDACTYLY TYPE C


Alternate names

BRACHYDACTYLY TYPE C Is also known as brachydactyly, haws type

Description

Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.

Most common symptoms of BRACHYDACTYLY TYPE C

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Delayed skeletal maturation
  • Clinodactyly of the 5th finger


More info about BRACHYDACTYLY TYPE C

SOURCES: MESH OMIM ORPHANET

BRACHYDACTYLY, TYPE A1, D; BDA1D


Most common symptoms of BRACHYDACTYLY, TYPE A1, D; BDA1D

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

SOURCES: OMIM

BRACHYDACTYLY TYPE A1


Alternate names

BRACHYDACTYLY TYPE A1 Is also known as farabee-type brachydactyly, brachydactyly, farabee type

Description

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

Most common symptoms of BRACHYDACTYLY TYPE A1

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Brachydactyly
  • Talipes equinovarus


More info about BRACHYDACTYLY TYPE A1

SOURCES: OMIM ORPHANET

ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD


Alternate names

ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD Is also known as chondrodysplasia, acromesomelic, with or without genital anomalies

Most common symptoms of ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Hypogonadism
  • Amenorrhea


More info about ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD

SOURCES: OMIM MESH


Potential gene panels for BMPR1B gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Arterial Hypertension Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4

More info about this panel

Pulmonary Hypertension Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel

Pulmonary Hypertension Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel

Pulmonary Hypertension Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Brachydactyly type A2 (sequence analysis of BMPR1B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BMPR1B gene.

More info about this panel

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

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

Pulmonary hypertension NGS panel Panel

United States.

By Connective Tissue Gene Tests Pulmonary hypertension NGS panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9

More info about this panel

Pulmonary hypertension Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Pulmonary hypertension Deletion / Duplication panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9

More info about this panel

Pulmonary hypertension Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Pulmonary hypertension Comprehensive panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9

More info about this panel

Pulmonary diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2

More info about this panel

Vascular and connective tissue diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1

More info about this panel

Brachydactyly, type A2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BMPR1B gene.

More info about this panel

Arterial Hypertension, idiopathic pulmonary Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BMPR1B gene.

More info about this panel

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

Pulmonary Arterial Hypertension Panel

Estonia.

By Asper Biogene Asper Biogene LLC Pulmonary Arterial Hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG KCNK3 SMAD9

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Pulmonary Hypertension Panel Panel

Spain.

By Health in Code Pulmonary Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG GDF2 KCNA5 KCNK3 SMAD1 SMAD4

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Pulmonary hypertension Panel Panel

Spain.

By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5

More info about this panel

Heritable pulmonary arterial hypertension Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Heritable pulmonary arterial hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 KCNK3 SMAD9

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

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

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

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

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

BMPR1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BMPR1B gene.

More info about this panel

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

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

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

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

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

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

PULMONARY HYPERTENSION, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5

More info about this panel

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

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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