NPR2 gene related symptoms and diseases
All the information presented here about the NPR2 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 NPR2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Disproportionate short stature | Uncommon - Between 30% and 50% cases |
| Acromesomelia | Uncommon - Between 30% and 50% cases |
| Ovoid vertebral bodies | Uncommon - Between 30% and 50% cases |
| Beaking of vertebral bodies | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NPR2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Long hallux
- Prominent forehead
- Frontal bossing
- Brachydactyly
Rarely - Less than 30% cases
- Delayed skeletal maturation
- Arachnodactyly
- Short nail
- Broad finger
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NPR2 gene
Here you will find a list of rare diseases related to the NPR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Description
Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).
Most common symptoms of ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
- Scoliosis
- Depressed nasal bridge
- Brachydactyly
- Frontal bossing
- Kyphosis
More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
SOURCES: ORPHANET
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
Alternate names
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia
Description
The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).
Most common symptoms of ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
- Brachydactyly
- Frontal bossing
- Short nose
- Severe short stature
- Prominent forehead
More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
SOURCES: OMIM
TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME
Alternate names
TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME Is also known as tall stature-scoliosis-macrodactyly of the halluces syndrome
Description
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Most common symptoms of TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME
- Scoliosis
- Osteopenia
- Arachnodactyly
- Hip dysplasia
- Tall stature
More info about TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK
Most common symptoms of SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK
- Short stature
- Delayed skeletal maturation
- Hypothyroidism
- Proportionate short stature
More info about SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK
SOURCES: OMIM
Search interest in NPR2
Potential gene panels for NPR2 gene
Acromesomelic dysplasia, Maroteaux type (sequence analysis of NPR2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NPR2 gene.
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.
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.
Acromesomelic Dysplasia, Maroteaux Type Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the NPR2 gene.
More info about this panel Germany.
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
Germany.
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panel Germany.
Invitae Overgrowth and Macrocephaly Syndromes Panel Panel
United States.
By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2
More info about this panel United States.
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 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.
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 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.
NPR2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NPR2 gene.
More info about this panel United States.
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.
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NPR2 gene.
More info about this panel Spain.
Acromesomelic Dysplasia Maroteaux Type , Sequencing NPR2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NPR2 gene.
More info about this panel Spain.
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