1. Mendelian
  2. Rare Disease Genes
  3. C19orf70

C19orf70 gene related symptoms and diseases

All the information presented here about the C19orf70 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC.

Top 5 symptoms associated to C19orf70 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Gait ataxia Very Common - Between 80% and 100% cases
Restlessness Very Common - Between 80% and 100% cases
Paraparesis Very Common - Between 80% and 100% cases
Spastic paraparesis Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with C19orf70 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Horizontal nystagmus

Not very common - Between 30% and 50% cases

Choreoathetosis

Commonly - More than 50% cases

Abnormality of extrapyramidal motor function

Not very common - Between 30% and 50% cases

Chorea

Commonly - More than 50% cases

Aciduria

Not very common - Between 30% and 50% cases

Neutropenia

Commonly - More than 50% cases

Paraplegia

Not very common - Between 30% and 50% cases

Abnormality of movement

And 18 more phenotypes.

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Rare diseases associated to C19orf70 gene

Here you will find a list of rare diseases related to the C19orf70. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3

Alternate names

3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 Is also known as mga, type iii;mga3, optic atrophy plus syndrome, optic atrophy, infantile, with chorea and spastic paraplegia, iraqi-jewish 'optic atrophy plus', costeff syndrome, optic atrophy 3, autosomal recessive, opa3, autosomal recessive;autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; costeff optic atrophy syndrome; costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; mga3

Description

Type III 3-methylglutaconic aciduria is a neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased (Anikster et al., 2001). The phenotype is similar to Behr syndrome (OMIM ) and may in some cases represent the same disorder (Sheffer et al., 1992; Lerman-Sagie, 1995).

Most common symptoms of 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus


More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3

SOURCES: ORPHANET UMLS OMIM MONDO DOID SCTID MESH GARD


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