ENTPD1-AS1 gene related symptoms and diseases

All the information presented here about the ENTPD1-AS1 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 ENTPD1-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Intellectual disability, moderate Very Common - Between 80% and 100% cases
Unsteady gait Very Common - Between 80% and 100% cases
Paraplegia Very Common - Between 80% and 100% cases
Delayed puberty Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ENTPD1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital cataract
  • Abnormality of the cerebral white matter
  • Spastic paraplegia
  • Aggressive behavior
  • Microcephaly
  • Areflexia
  • Talipes equinovarus
  • Gait disturbance

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ENTPD1-AS1 gene

Here you will find a list of rare diseases related to the ENTPD1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64


Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64 Is also known as spg64

Description

Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64

  • Intellectual disability
  • Microcephaly
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64

SOURCES: ORPHANET OMIM




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