EBP gene related symptoms and diseases
All the information presented here about the EBP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EBP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Common - Between 50% and 80% cases |
| Epiphyseal stippling | Common - Between 50% and 80% cases |
| Esotropia | Common - Between 50% and 80% cases |
| Dandy-Walker malformation | Common - Between 50% and 80% cases |
| Skeletal dysplasia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with EBP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Polyhydramnios
- Polydactyly
- Midface retrusion
- Abnormality of the skeletal system
- Ichthyosis
- Cataract
- Scoliosis
- Failure to thrive
And 125 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EBP gene
Here you will find a list of rare diseases related to the EBP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA
Alternate names
X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2, cpxd, cdpxd, conradi-hunermann-happle syndrome, happle syndrome, conradi-hunermann syndrome, cdpx2, chondrodystrophia calcificans congenita, conradi-hÜnermann-happle syndrome
Description
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
Most common symptoms of X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA
- Short stature
- Hearing impairment
- Scoliosis
- Nystagmus
- Failure to thrive
More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA
MEND SYNDROME
Alternate names
MEND SYNDROME Is also known as male ebp disorder with neurologic defects, male ebp disorder with neurological defects
Description
MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.
Most common symptoms of MEND SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MEND SYNDROME
DIGITAL ANOMALIES-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME
Search interest in EBP
Potential gene panels for EBP gene
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
EBP sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the EBP gene.
More info about this panel United States.
EBP deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the EBP gene.
More info about this panel United States.
EBP Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the EBP gene.
More info about this panel Germany.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
EBP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EBP gene.
More info about this panel Spain.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
Chondrodysplasia punctata, X-linked dominant (sequence analysis of EBP gen) Panel
Portugal.
By CGC Genetics
This panel specifically test the EBP gene.
More info about this panel Portugal.
Chondrodysplasia Punctata 2, X-Linked Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the EBP gene.
More info about this panel United Kingdom.
Conradi-Hunermann syndrome Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the EBP gene.
More info about this panel Netherlands.
Conradi-Hunermann syndrome via EBP Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EBP gene.
More info about this panel United States.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
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.
Chondrodysplasia punctata and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Deletion / Duplication panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5
More info about this panel United States.
Chondrodysplasia punctata and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Comprehensive panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5
More info about this panel United States.
Chondrodysplasia punctata and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders NGS panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5
More info about this panel United States.
Skeletal dysplasia extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Chondrodysplasia Punctata 2, X-Linked Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the EBP gene.
More info about this panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
Chondrodysplasia punctata Panel Panel
Germany.
By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX7
More info about this panel Germany.
Chondrodysplasia Punctata 2, X-Linked Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the EBP gene.
More info about this panel Spain.
Chondrodysplasia Punctata 2, X-Linked Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the EBP gene.
More info about this panel Germany.
Chondrodysplasia punctata Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the EBP gene.
More info about this panel Austria.
Chondrodysplasia punctata Panel
Slovakia.
By MedGene
This panel specifically test the EBP gene.
More info about this panel Slovakia.
Skeletal dysplasias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
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.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
EBP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EBP gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Ichthyosis Panel Panel
Finland.
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panel Finland.
Chondrodysplasia Punctata Panel Panel
Finland.
By Blueprint Genetics Chondrodysplasia Punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX14 PEX7 PEX19
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Peroxisomal Disorders Panel Panel
Finland.
By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4
More info about this panel Finland.
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.
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.
X-linked dominant chondrodysplasia punctata Panel
Spain.
By Bioarray
This panel specifically test the EBP gene.
More info about this panel Spain.
CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT) (CONRADI-HÜNERMANN-HAPPLE SYND.) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the EBP gene.
More info about this panel Spain.
X-Linked Chondrodysplasia Punctata Type 2, Sequencing EBP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EBP gene.
More info about this panel Spain.
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
More info about this panel Spain.
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
Spain.
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: IMPAD1 EBP AGPS GNPAT LBR ARSE PEX7
More info about this panel Spain.
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