GDAP1 gene related symptoms and diseases

All the information presented here about the GDAP1 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.

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 GDAP1 gene

Symptoms // Phenotype	% Cases
Distal muscle weakness	Very Common - Between 80% and 100% cases
Distal sensory impairment	Very Common - Between 80% and 100% cases
Distal amyotrophy	Very Common - Between 80% and 100% cases
Decreased number of peripheral myelinated nerve fibers	Very Common - Between 80% and 100% cases
Skeletal muscle atrophy	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GDAP1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Peripheral demyelination
Areflexia
Not very common - Between 30% and 50% cases
Gait disturbance
Axonal degeneration
Pes cavus
Abnormality of the foot
Limb muscle weakness
Split hand

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GDAP1 gene

Here you will find a list of rare diseases related to the GDAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 2H Is also known as cmt2h, ar-cmt2c, axonal charcot-marie-tooth disease with pyramidal involvement, autosomal recessive axonal cmt4c2, charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive, charcot-marie-tooth neuropathy, axonal, with pyramidal feature

Description

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

Skeletal muscle atrophy
Pes cavus
Distal muscle weakness
Distal amyotrophy
Distal sensory impairment

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

SOURCES: MESH ORPHANET OMIM

CHARCOT-MARIE-TOOTH DISEASE TYPE 4A

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 4A Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a, charcot-marie-tooth neuropathy, type 4a, cmt4a

Description

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4A

Motor delay
Peripheral neuropathy
Gait disturbance
Areflexia
Hyporeflexia

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4A

SOURCES: OMIM MESH ORPHANET

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Description

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

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

Motor delay
Skeletal muscle atrophy
Gait disturbance
Arrhythmia
Proximal muscle weakness

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

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

Alternate names

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k, autosomal recessive axonal cmt4c4, charcot-marie-tooth disease, axonal, autosomal recessive, type 2k, arcmt2k, charcot-marie-tooth neuropathy, axonal, type 2k

Description

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

Most common symptoms of AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

Global developmental delay
Generalized hypotonia
Muscle weakness
Peripheral neuropathy
Skeletal muscle atrophy

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

SOURCES: ORPHANET OMIM

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

Alternate names

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Is also known as cmt2 with vocal cord paresis, autosomal recessive, charcot-marie-tooth disease, type 4a, axonal form, charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

Muscle weakness
Flexion contracture
Areflexia
Pes cavus
Paralysis

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

SOURCES: OMIM

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

Alternate names

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A Is also known as charcot-marie-tooth neuropathy, recessive intermediate a, ri-cmta, ri-cmt type a

Description

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.

Most common symptoms of AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

Scoliosis
Muscle weakness
Flexion contracture
Peripheral neuropathy
Skeletal muscle atrophy

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

SOURCES: ORPHANET OMIM

Search interest in GDAP1

Potential gene panels for GDAP1 gene

CMT Advanced Evaluation - Recessive, Demyelinating Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive, Demyelinating that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 MTMR2 NDRG1

GDAP1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to GDAP1 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 GDAP1 gene

CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

Alternate names

Description

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

CHARCOT-MARIE-TOOTH DISEASE TYPE 4A

Alternate names

Description

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4A

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Alternate names

Description

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

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

Alternate names

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

Search interest in GDAP1

Potential gene panels for GDAP1 gene

CMT Advanced Evaluation - Recessive, Demyelinating Panel

CMT Advanced Evaluation - Comprehensive Panel

CMT Advanced Evaluation - Axonal Panel

CMT Advanced Evaluation - Demyelinating Panel

CMT Advanced Evaluation - Recessive Panel

GDAP1 DNA Sequencing Test Panel

CMT Advanced Evaluation - Nonprevalent Panel

CMT Advanced Evaluation - Nonprevalent Demyelinating Panel

CMT Advanced Evaluation - Nonprevalent Axonal Panel

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

Charcot-Marie-Tooth Syndrome 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

Peroxisomal Disorders Sequencing Panel Panel

Charcot-Marie-Tooth Panel

Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene sequencing test Panel

GDAP1. Complete sequencing Panel

DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS Panel

GDAP1. Complete sequencing Panel

GDAP1. MLPA testing Panel

Charcot-Marie-Tooth disease type 2H/2K/4A (CMT2H/2K/4A, sequence analysis of GDAP1 gene) Panel

Charcot-Marie-Tooth disease type 2H/2K/4A (CMT2H/2K/4A, deletions/duplications on GDAP1 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

CHARCOT-MARIE-TOOTH DISEASE TYPE 4A Panel

Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel 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

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

Neuropathy Panel

Charcot-Marie-Tooth Neuropathy Type 4A Panel

Charcot-Marie-Tooth Neuropathy Type 2H/2K Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Diseases Panel

Newborn: “Floppy Infant “ Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Charcot Marie Tooth Type 2 Panel Panel

Charcot Marie Tooth Type 4 Panel Panel

Charcot-Marie-Tooth Neuropathy Type 4A Panel

Charcot-Marie-Tooth Neuropathy Type 2H/2K Panel

CMT2K Panel

CMT4A Panel