SEC24D gene related symptoms and diseases

All the information presented here about the SEC24D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SEC24D gene

Symptoms // Phenotype % Cases
High pitched voice Very Common - Between 80% and 100% cases
Macrocephaly Very Common - Between 80% and 100% cases
Recurrent fractures Very Common - Between 80% and 100% cases
Osteopenia Very Common - Between 80% and 100% cases
Proptosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SEC24D gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Midface retrusion
  • Kyphosis
  • Hydrocephalus
  • Frontal bossing
  • Downslanted palpebral fissures
  • Blue sclerae
  • High palate
  • Short stature

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SEC24D gene

Here you will find a list of rare diseases related to the SEC24D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COLE-CARPENTER SYNDROME

Alternate names

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome, bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Description

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

Most common symptoms of COLE-CARPENTER SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about COLE-CARPENTER SYNDROME

SOURCES: ORPHANET OMIM

COLE-CARPENTER SYNDROME 2; CLCRP2

Most common symptoms of COLE-CARPENTER SYNDROME 2; CLCRP2

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


More info about COLE-CARPENTER SYNDROME 2; CLCRP2

SOURCES: OMIM


Potential gene panels for SEC24D gene

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5

More info about this panel
United States.

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel
United States.

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel
United States.

Cole-Carpenter syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cole-Carpenter syndrome Comprehensive panel that also includes the following genes: SEC24D P4HB

More info about this panel
United States.

Cole-Carpenter syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cole-Carpenter syndrome Deletion / Duplication panel that also includes the following genes: SEC24D P4HB

More info about this panel
United States.

Cole-Carpenter syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cole-Carpenter syndrome NGS panel that also includes the following genes: SEC24D P4HB

More info about this panel
United States.

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Osteogenesis imperfecta NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
United States.

Osteogenesis imperfecta Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
United States.

Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Cole-Carpenter Syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Cole-Carpenter Syndrome that also includes the following genes: SEC24D P3H1 P4HB

More info about this panel
Germany.

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
Germany.

OI panel 2 Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital OI panel 2 that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 XYLT2 SP7 B3GALT6 FKBP10

More info about this panel
Belgium.

Osteogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

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.

OSTEOGENESIS IMPERFECTA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOGENESIS IMPERFECTA NGS PANEL that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
Spain.

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