ATP1A1 gene related symptoms and diseases

All the information presented here about the ATP1A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP1A1 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Pes cavus Very Common - Between 80% and 100% cases
Distal muscle weakness Very Common - Between 80% and 100% cases
Peripheral axonal neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP1A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sensorimotor neuropathy
  • Foot dorsiflexor weakness
  • Steppage gait
  • Decreased number of large peripheral myelinated nerve fibers
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Rare diseases associated to ATP1A1 gene

Here you will find a list of rare diseases related to the ATP1A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD


Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD Is also known as charcot-marie-tooth neuropathy, type 2dd, cmt2dd, atp1a1-related autosomal dominant charcot-marie-tooth disease type 2, atp1a1-related cmt2

Description

Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by Lassuthova et al., 2018).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD

  • Muscle weakness
  • Peripheral neuropathy
  • Pes cavus
  • Distal muscle weakness
  • Peripheral axonal neuropathy


More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD

SOURCES: ORPHANET OMIM


Potential gene panels for ATP1A1 gene

Atrial fibrillation Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests Atrial fibrillation Deletion / Duplication test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1

More info about this panel

Atrioventricular block Comprehensive test Panel

United States.

By Connective Tissue Gene Tests Atrioventricular block Comprehensive test that also includes the following genes: BSCL2 AARS COX6A1 C12orf65 GAA GLA ATP1A1 AIFM1

More info about this panel

Atrioventricular block NGS test Panel

United States.

By Connective Tissue Gene Tests Atrioventricular block NGS test that also includes the following genes: BSCL2 AARS COX6A1 C12orf65 GAA GLA ATP1A1 AIFM1

More info about this panel

Atrial fibrillation Comprehensive test Panel

United States.

By Connective Tissue Gene Tests Atrial fibrillation Comprehensive test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1

More info about this panel

Atrial fibrillation NGS test Panel

United States.

By Connective Tissue Gene Tests Atrial fibrillation NGS test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1

More info about this panel

Charcot-Marie-Tooth disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel

Charcot-Marie-Tooth disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel

Charcot-Marie-Tooth disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel

ATP1A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP1A1 gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel


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