DYNC1H1 gene related symptoms and diseases

All the information presented here about the DYNC1H1 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 DYNC1H1 gene

Symptoms // Phenotype	% Cases
Gait disturbance	Common - Between 50% and 80% cases
Peripheral neuropathy	Uncommon - Between 30% and 50% cases
Polymicrogyria	Uncommon - Between 30% and 50% cases
Difficulty running	Uncommon - Between 30% and 50% cases
Hyporeflexia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DYNC1H1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Waddling gait
Sensory impairment
Abnormality of the foot
Motor delay
Lower limb muscle weakness
Limb muscle weakness
Pes cavus
Global developmental delay

And 66 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DYNC1H1 gene

Here you will find a list of rare diseases related to the DYNC1H1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Alternate names

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Description

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

SOURCES: OMIM

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O

Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o, cmt2o, charcot-marie-tooth disease, axonal, autosomal dominant, type 2o

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2O is a rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.

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

Pain
Motor delay
Peripheral neuropathy
Gait disturbance
Hyporeflexia

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

SOURCES: OMIM ORPHANET

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET

AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES

Alternate names

AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES Is also known as lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures, smaled1, sma-led, spinal muscular atrophy, childhood, proximal, autosomal dominant, kugelberg-welander syndrome, autosomal dominant, spinal muscular atrophy,

Description

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010).The most common form of SMA (see, e.g., SMA1, {253300}) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (OMIM ) on chromosome 5q. Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular AtrophySee also SMALED2 (OMIM ), caused by mutation in the BICD2 gene (OMIM ) on chromosome 9q22.

Most common symptoms of AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES

Global developmental delay
Muscle weakness
Flexion contracture
Motor delay
Skeletal muscle atrophy

More info about AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES

SOURCES: ORPHANET MESH OMIM

Search interest in DYNC1H1

Potential gene panels for DYNC1H1 gene

Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation that also includes the following genes: UBA1 VRK1 BICD2 TRPV4 DYNC1H1 HSPB8 GARS HSPB1 HSPB3 IGHMBP2

DYNC1H1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to DYNC1H1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to DYNC1H1 gene

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Alternate names

Description

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O

Alternate names

Description

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

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITHOUT CONTRACTURES

Search interest in DYNC1H1

Potential gene panels for DYNC1H1 gene

Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

Neuromuscular Disorders Panel Panel

Charcot-Marie-Tooth Syndrome Panel

Cerebral Cortical Malformation Sequencing Panel Panel

Lissencephaly Sequencing Panel Panel

Non-Specific Intellectual Disability Panel Panel

Comprehensive Lissencephaly Panel Panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

Charcot Marie Tooth 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

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

DYNC1H1. Complete sequencing Panel

DYNC1H1. Complete sequencing Panel

DYNC1H1. Complete sequencing Panel

CHOP Epilepsy Panel Panel

Charcot-Marie-Tooth disease type 20 (CMT1C, sequence analysis of DYNC1H1 gene) Panel

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

Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Spinal muscular atrophy (NGS panel for 21 genes) Panel

Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via DYNC1H1 Gene Sequencing with CNV Detection 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

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Atrial fibrillation Deletion / Duplication test Panel

Atrial fibrillation Comprehensive test Panel

Atrial fibrillation NGS test Panel

Charcot-Marie-Tooth disease Deletion / Duplication panel Panel

Charcot-Marie-Tooth disease NGS panel Panel

Charcot-Marie-Tooth disease Comprehensive panel 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

Lissencephaly and related disorders NGS test Panel

Lissencephaly and related disorders Deletion / Duplication test Panel

Lissencephaly and related disorders Comprehensive test Panel

Mental retardation - different panels Panel

Neuropathy Panel

DYNC1H1 Panel

Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

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

Spinal muscular atrophy, lower extremity, autosomal dominant, type 1 Panel

CMT2O Panel

AllNeuro panel Panel

DYNC1H1 Panel

Neuronal Migration Disorders Panel Panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Neuronal Migration Disorders Panel Panel