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: ORPHANET,HGNC,NCBIGENE,OMIM.

Top 5 symptoms associated to ADD3 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% 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

Other less frequent symptoms

Patients with ADD3 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Nystagmus

Not very common - Between 30% and 50% cases

Spasticity

Commonly - More than 50% cases

Spastic diplegia

Not very common - Between 30% and 50% cases

Infantile onset Abnormal pyramidal sign Dysarthria Dysphagia Heterotopia

And 19 more phenotypes.

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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.


CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1

Alternate names

CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 Is also known as ;inherited congenital spastic quadriplegia; spastic quadriplegic cerebral palsy

Description

Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The most common forms result from factors surrounding difficulties before or at birth, such as severe perinatal asphyxia, congenital infection, prematurity, and multiple pregnancy (Blair and Stanley, 1988; Stanley, 1994). More rarely, familial clustering or absence of pre- or postpartum events indicate that there are genetic forms of the disorder (Lynex et al., 2004).Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (OMIM ), and mixed (Gustavson et al., 1969). Genetic Heterogeneity of Spastic Quadriplegic Cerebral PalsySee also CPSQ2 (OMIM ), caused by deletion of the ANKRD15 gene (KANK1 ) inherited on the paternal allele, and CPSQ3 (OMIM ), caused by mutation in the ADD3 gene (OMIM ) on 10q24.Related phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47 ), spastic paraplegia-50 (SPG50 ), spastic paraplegia-51 (SPG51 ), and spastic paraplegia-52 (OMIM ).

Most common symptoms of CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1

SOURCES: MONDO MESH UMLS ORPHANET GARD OMIM

CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3

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

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus


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

SOURCES: OMIM MONDO UMLS

Potential gene panels for ADD3 gene

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

By CeGaT GmbH in Germany. Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: MTHFR ABHD12 ARG1 ATP7A AUH C12orf65 PSEN1 OPTN OPA1 GLB1

More info about this panel

ADD3 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADD3 gene.

More info about this panel


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