HINT1 gene related symptoms and diseases

All the information presented here about the HINT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, 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 HINT1 gene

Symptoms // Phenotype	% Cases
Peripheral neuropathy	Uncommon - Between 30% and 50% cases
Sensory impairment	Uncommon - Between 30% and 50% cases
Myokymia	Uncommon - Between 30% and 50% cases
Muscle fibrillation	Uncommon - Between 30% and 50% cases
Sensory axonal neuropathy	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HINT1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Myotonia
Muscle stiffness
Foot dorsiflexor weakness
Fasciculations
Muscle cramps
Skeletal muscle atrophy
Distal sensory impairment
Peripheral axonal neuropathy

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HINT1 gene

Here you will find a list of rare diseases related to the HINT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA

Alternate names

AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA Is also known as autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia, arcmt2-nm, aran-nm

Description

Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.

More info about AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA

SOURCES: ORPHANET

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

Alternate names

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN Is also known as myokymia, myotonia, and muscle wasting, gamstorp-wohlfart syndrome

Description

NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, {118210}) and distal hereditary motor neuropathy (see, e.g., HMN1, {182960}). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012).

Most common symptoms of NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

Peripheral neuropathy
Skeletal muscle atrophy
Gait disturbance
Hyporeflexia
Elevated serum creatine phosphokinase

More info about NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

SOURCES: OMIM

Search interest in HINT1

Potential gene panels for HINT1 gene

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1

HINT1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to HINT1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to HINT1 gene

AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA

Alternate names

Description

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

Alternate names

Description

Most common symptoms of NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

Search interest in HINT1

Potential gene panels for HINT1 gene

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

Neuromuscular Disorders Panel 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

Neuromyotonia and axonal neuropathy AR (sequence analysis of HINT1 gene) Panel

Non-dystrophic myotonias (NGS panel for 11 genes) Panel

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

Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel

Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel

Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel

Peripheral Neuropathies via HINT1 Gene Sequencing with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel

Distal hereditary motor neuropathy and related disorders NGS panel Panel

Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel

Neuropathy Panel

Neuromyotonia and Axonal Neuropathy, Autosomal Recessive Panel

Myotonia Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Neuromyotonia and axonal neuropathy, autosomal recessive Panel

AllNeuro panel Panel

Non-dystrophic myotonia congenita panel Panel

Myotonia Panel Panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Single gene testing HINT1 Panel

Charcot-Marie-Tooth Disease Panel

HINT1 Panel

Invitae Comprehensive Neuropathies Panel Panel

Invitae Hereditary Motor Neuropathy Panel Panel

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel

Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel

Non-dystrophic myotonias Panel

HINT1 Panel

Charcot-Marie-Tooth Neuropathy Panel Panel

MYOTONIA CONGENITA NGS PANEL Panel

NEURONOPATHY, DISTAL HEREDITARY NGS PANEL Panel