PYURF gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PYURF gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Knee flexion contracture Very Common - Between 80% and 100% cases
Congenital cataract Very Common - Between 80% and 100% cases
Poor speech Very Common - Between 80% and 100% cases
Bulbous nose Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Hip dysplasia
  • Limb undergrowth
  • Narrow forehead
  • Abnormal lung morphology
  • Cerebral visual impairment
  • Aspiration
  • Elbow flexion contracture
  • Disproportionate short-limb short stature

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PYURF gene

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


HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Alternate names

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12, glycosylphosphatidylinositol biosynthesis defect 12

Description

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Most common symptoms of HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

SOURCES: OMIM




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