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.
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
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
Search interest in LAMA1
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 United States.
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 Portugal.
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 Portugal.
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 United States.
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 Germany.
Poretti-Boltshauser syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LAMA1 gene.
More info about this panel Germany.
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 Germany.
Single gene testing LAMA1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the LAMA1 gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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 United States.
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 United States.
LAMA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LAMA1 gene.
More info about this panel United States.
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 Finland.
PORETTI-BOLTSHAUSER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the LAMA1 gene.
More info about this panel Spain.
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