LAMA1 gene related symptoms and diseases

All the information presented here about the LAMA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LAMA1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Motor delay Very Common - Between 80% and 100% cases
Abnormality of the cerebral white matter Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Abnormality of the periventricular white matter Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LAMA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Heterotopia
  • Muscular hypotonia
  • Muscle weakness
  • Generalized hypotonia
  • Not very common - Between 30% and 50% cases

  • Hypokinesia
  • Astrocytosis
  • Impaired mastication
  • Pontocerebellar atrophy

And 89 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to LAMA1 gene

Here you will find a list of rare diseases related to the LAMA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Alternate names

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient, cmd1a, merosin-negative congenital muscular dystrophy, mdc1a, congenital muscular dystrophy due to laminin alpha2 deficiency

Description

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

SOURCES: OMIM ORPHANET

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Alternate names

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Description

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

Most common symptoms of ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for LAMA1 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LAMA1 gene.

More info about this panel

Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LAMA1 gene.

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Poretti-Boltshauser syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LAMA1 gene.

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Single gene testing LAMA1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the LAMA1 gene.

More info about this panel

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

LAMA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LAMA1 gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

PORETTI-BOLTSHAUSER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LAMA1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ARID1B HADHA CHIT1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more