LGI4 gene related symptoms and diseases

All the information presented here about the LGI4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LGI4 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Elbow flexion contracture Uncommon - Between 30% and 50% cases
EMG abnormality Uncommon - Between 30% and 50% cases
Limitation of joint mobility Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LGI4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Muscular hypotonia
  • Internally rotated shoulders
  • Fetal akinesia sequence
  • Ankle contracture
  • Distal arthrogryposis
  • Hip contracture
  • Akinesia
  • Poor head control

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LGI4 gene

Here you will find a list of rare diseases related to the LGI4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY


Description

AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).

Most common symptoms of ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Strabismus


More info about ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

SOURCES: OMIM

HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME


Description

Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Most common symptoms of HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

SOURCES: ORPHANET


Potential gene panels for LGI4 gene

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

LGI4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LGI4 gene.

More info about this panel


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