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.

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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

SOURCES: OMIM ORPHANET


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

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

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

DPH1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DPH1 gene.

More info about this panel

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


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