ATL1 gene related symptoms and diseases

All the information presented here about the ATL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ATL1 gene

Symptoms // Phenotype	% Cases
Peripheral neuropathy	Very Common - Between 80% and 100% cases
Babinski sign	Common - Between 50% and 80% cases
Sensory neuropathy	Common - Between 50% and 80% cases
Muscle weakness	Common - Between 50% and 80% cases
Gait disturbance	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ATL1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Peripheral axonal neuropathy
Pes cavus
Not very common - Between 30% and 50% cases
Intellectual disability
Distal sensory impairment
Polyneuropathy
Paraparesis
Spastic paraparesis
Osteomyelitis

And 132 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ATL1 gene

Here you will find a list of rare diseases related to the ATL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i, hsan1, hsan ia, hsn ia, neuropathy, hereditary sensory, type ia, hsn1a, neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Description

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Intellectual disability
Generalized hypotonia
Hearing impairment
Microcephaly
Nystagmus

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

SOURCES: OMIM ORPHANET

NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Description

Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Most common symptoms of NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Muscle weakness
Pain
Peripheral neuropathy
Hyperreflexia
Skeletal muscle atrophy

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

SOURCES: OMIM

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Description

Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Global developmental delay
Ataxia
Growth delay
Cataract
Cognitive impairment

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

SOURCES: ORPHANET OMIM

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Alternate names

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3, fsp1, strumpell disease, familial spastic paraplegia, autosomal dominant, 1

Description

The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

Most common symptoms of SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Intellectual disability
Short stature
Hearing impairment
Scoliosis
Ataxia

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

SOURCES: OMIM

Search interest in ATL1

Potential gene panels for ATL1 gene

ATL1 (HSAN) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the ATL1 gene.

ATL1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ATL1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to ATL1 gene

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Alternate names

Description

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

Description

Most common symptoms of NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Alternate names

Description

Most common symptoms of SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Search interest in ATL1

Potential gene panels for ATL1 gene

ATL1 (HSAN) DNA Sequencing Test Panel

Atlastin (SPG3A) DNA Sequencing Test Panel

HSP, Common Dominant Evaluation Panel

HSP, Comprehensive Evaluation Panel

HSP, Supplemental Sporadic Evaluation Panel

HSP, Complete Dominant Evaluation Panel

Hereditary Spastic Paraplegia Panel Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Hereditary spastic paraplegia type 3 Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

Hereditary Spastic Paraplegia 3A Panel

Atlastin GTPase 1 (ATL1) gene sequencing test Panel

Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis Panel

SPG3A. Complete sequencing Panel

Spastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes) Panel

Spastic Paraplegia 3A (sequence analysis of ATL1 gene) Panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Hereditary spastic paraplegia AD (NGS panel for 10 genes) Panel

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Spastic Paraplegia 3A via ATL1 Gene Sequencing with CNV Detection Panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Neuropathy Panel

ATL1 Panel

Neurogenetic Disorders - panels Panel

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

AllNeuro panel Panel

SPASTIC PARAPLEGIA 3 Panel

Spastic paraplegia AD panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Single gene testing ATL1 Panel

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel

Hereditary Spastic Paraplegia Panel

Hereditary spastic paraplegia, SPG3A sequencing Panel

Neuropathy, hereditary sensory, type ID Panel

Spastic Paraplegia 3A Panel

Neuropathy, hereditary sensory, type ID Panel

Spastic Paraplegia 3A Panel

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel

Invitae Comprehensive Neuropathies Panel Panel

Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

Spastic paraplegia 3A: SPG3 (ATL1) gene sequence analysis Panel

SPASTIC PARAPLEGIA A.D. Panel

Hereditary Neuropathies: Sequencing Panel Panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

Hereditary Neuropathies NGS Panel Panel

Intellectual Disability NGS Panel Panel

Spastic Paraplegia NGS Panel Panel

Charcot Marie Tooth Disease Extended NGS Panel Panel