POP1 gene related symptoms and diseases

All the information presented here about the POP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POP1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ovoid vertebral bodies Very Common - Between 80% and 100% cases
Coxa valga Very Common - Between 80% and 100% cases
Coxa vara Very Common - Between 80% and 100% cases
Relative macrocephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cubitus valgus
  • Cone-shaped epiphysis
  • Metaphyseal irregularity
  • Short femoral neck
  • Metaphyseal dysplasia
  • Thoracolumbar scoliosis
  • Broad ribs
  • Small nail

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POP1 gene

Here you will find a list of rare diseases related to the POP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type, spondyloepimetaphyseal dysplasia, anauxetic type


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

Most common symptoms of ANAUXETIC DYSPLASIA

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay



Potential gene panels for POP1 gene

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel


By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

POP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POP1 gene.

More info about this panel
United States.

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