DPH1 gene related symptoms and diseases
All the information presented here about the DPH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DPH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Craniosynostosis | Very Common - Between 80% and 100% cases |
| Tubulointerstitial nephritis | Very Common - Between 80% and 100% cases |
| Scaphocephaly | Very Common - Between 80% and 100% cases |
| Hypoplastic toenails | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DPH1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Nephritis
- Sparse eyebrow
- Trigonocephaly
- Sparse eyelashes
- Cerebellar vermis hypoplasia
- Dandy-Walker malformation
- Ectodermal dysplasia
- Hematuria
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DPH1 gene
Here you will find a list of rare diseases related to the DPH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME
Alternate names
CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome, loucks-innes syndrome
Most common symptoms of CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hypertelorism
- Micrognathia
More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME
Search interest in DPH1
Potential gene panels for DPH1 gene
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
DPH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DPH1 gene.
More info about this panel United States.
Developmental Delay with Short Stature, Dysmorphic Features and Sparse Hair , Sequencing DPH1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the DPH1 gene.
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DLG3-AS1 EDARADD PHYKPL GHR SCN2A ST3GAL3 AKR1C1