ADD3 gene related symptoms and diseases

All the information presented here about the ADD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADD3 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Spastic tetraplegia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADD3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spasticity
  • Spastic diplegia
  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Dysphagia
  • Cognitive impairment
  • Dysarthria
  • Heterotopia
  • Abnormal pyramidal sign

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADD3 gene

Here you will find a list of rare diseases related to the ADD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INHERITED CONGENITAL SPASTIC TETRAPLEGIA


Alternate names

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy, inherited congenital spastic quadriplegia

Description

Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

Most common symptoms of INHERITED CONGENITAL SPASTIC TETRAPLEGIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

SOURCES: ORPHANET MESH OMIM

CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3


Most common symptoms of CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3

SOURCES: OMIM


Potential gene panels for ADD3 gene

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

ADD3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADD3 gene.

More info about this panel


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