SH3PXD2B gene related symptoms and diseases
All the information presented here about the SH3PXD2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SH3PXD2B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Thickened skin | Very Common - Between 80% and 100% cases |
| Cholelithiasis | Very Common - Between 80% and 100% cases |
| Short long bone | Very Common - Between 80% and 100% cases |
| Abnormality of the metacarpal bones | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SH3PXD2B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Osteolysis
- Short chin
- Wormian bones
- Gynecomastia
- Wide anterior fontanel
- Gingival overgrowth
- Short phalanx of finger
- Bowing of the long bones
And 91 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SH3PXD2B gene
Here you will find a list of rare diseases related to the SH3PXD2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FRANK-TER HAAR SYNDROME
Alternate names
FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome, borrone dermatocardioskeletal syndrome, melnick-needles syndrome, autosomal recessive, formerly
Description
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Most common symptoms of FRANK-TER HAAR SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Growth delay
More info about FRANK-TER HAAR SYNDROME
Search interest in SH3PXD2B
Potential gene panels for SH3PXD2B gene
Optic Atrophy and Early Glaucoma Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panel United States.
Frank-ter Haar syndrome (sequence analysis of SH3PXD2B gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SH3PXD2B gene.
More info about this panel Portugal.
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection that also includes the following genes: B3GLCT COL4A1 CYP1B1 SH3PXD2B FOXC1 FOXE3 ASPH PAX6 PITX2
More info about this panel United States.
Glaucoma Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panel United States.
Frank-ter Haar syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SH3PXD2B gene.
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Glaucoma Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma that also includes the following genes: RPGRIP1 OPTN ASB10 OLFM2 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panel Spain.
Glaucoma (Advance) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
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.
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.
SH3PXD2B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SH3PXD2B gene.
More info about this panel United States.
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.
GLAUCOMA NGS ÀNEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1
More info about this panel Spain.
Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel
Spain.
By Reference Laboratory Genetics Glaucoma , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: RPGRIP1 OPTN ASB10 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36 FOXC1
More info about this panel Spain.
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