LAGE3 gene related symptoms and diseases

All the information presented here about the LAGE3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LAGE3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Delayed speech and language development Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Focal segmental glomerulosclerosis Very Common - Between 80% and 100% cases
Glomerulosclerosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LAGE3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nephrotic syndrome
  • Narrow forehead
  • Arachnodactyly
  • Proteinuria
  • Cerebellar hypoplasia
  • Cerebellar atrophy
  • Intrauterine growth retardation
  • Visual impairment

And 135 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LAGE3 gene

Here you will find a list of rare diseases related to the LAGE3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Description

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Most common symptoms of GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

SOURCES: OMIM

GALLOWAY-MOWAT SYNDROME


Alternate names

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome, spinocerebellar ataxia, autosomal recessive 5, formerly, microcephaly, hiatal hernia, and nephrotic syndrome, scar5, formerly, galloway syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Description

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

Most common symptoms of GALLOWAY-MOWAT SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about GALLOWAY-MOWAT SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for LAGE3 gene

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2

More info about this panel


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