SPG29 gene related symptoms and diseases

All the information presented here about the SPG29 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends

Top 5 symptoms and clinical features associated to SPG29 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Impaired vibratory sensation	Very Common - Between 80% and 100% cases
Abnormality of the rectum	Very Common - Between 80% and 100% cases
Urinary hesitancy	Very Common - Between 80% and 100% cases
Kernicterus	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG29 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Nocturia
Hyperreflexia in upper limbs
Neonatal hyperbilirubinemia
Upper limb spasticity
Impaired proprioception
Hiatus hernia
Lower limb hyperreflexia
Urinary urgency

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPG29 gene

Here you will find a list of rare diseases related to the SPG29. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Description

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Seizures
Hearing impairment
Sensorineural hearing impairment
Spasticity
Hyperreflexia

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

SOURCES: OMIM MESH ORPHANET

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