MPZ gene related symptoms and diseases

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

Symptoms // Phenotype	% Cases
Areflexia	Very Common - Between 80% and 100% cases
Distal amyotrophy	Common - Between 50% and 80% cases
Distal muscle weakness	Common - Between 50% and 80% cases
Hyporeflexia	Common - Between 50% and 80% cases
Distal sensory impairment	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Onion bulb formation
Pes cavus
Skeletal muscle atrophy
Not very common - Between 30% and 50% cases
Muscle weakness
Decreased number of peripheral myelinated nerve fibers
Decreased motor nerve conduction velocity
Peripheral neuropathy
Sensory impairment

And 100 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MPZ gene

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

DEJERINE-SOTTAS SYNDROME

Alternate names

DEJERINE-SOTTAS SYNDROME Is also known as hereditary motor and sensory neuropathy type iii, hmsn 3, hereditary motor and sensory neuropathy type 3, charcot-marie-tooth disease type 3, hmsn iii

Description

Dejerine-Sottas syndrome is a clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease (see this term) characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.

More info about DEJERINE-SOTTAS SYNDROME

SOURCES: ORPHANET

ROUSSY-LÉVY SYNDROME

Alternate names

ROUSSY-LÉVY SYNDROME Is also known as hereditary areflexic dystasia, roussy-lÉvy type, roussy-levy syndrome

Most common symptoms of ROUSSY-LÉVY SYNDROME

Ataxia
Nystagmus
Motor delay
Tremor
Gait disturbance

More info about ROUSSY-LÉVY SYNDROME

SOURCES: OMIM ORPHANET

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

Alternate names

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii, dsn, hmsn3, dss, dejerine-sottas syndrome, cmt3, charcot-marie-tooth disease, type 3, dejerine-sottas neuropathy

Description

Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).

Most common symptoms of HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

Generalized hypotonia
Scoliosis
Ataxia
Nystagmus
Muscle weakness

More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

SOURCES: OMIM

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B Is also known as cmt1b

Description

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

Hearing impairment
Scoliosis
Muscle weakness
Motor delay
Skeletal muscle atrophy

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

SOURCES: ORPHANET

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Alternate names

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b, charcot-marie-tooth neuropathy, type 1b, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b, hereditary motor and sensory neuropathy ib, hereditary motor and sensory neuropathy i, hmsn i, peroneal muscular atrop

Description

Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Hearing impairment
Ataxia
Muscle weakness
Pain
Peripheral neuropathy

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

SOURCES: OMIM

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J

Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J Is also known as charcot-marie-tooth neuropathy, type 2j, cmt2j, charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

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

Hearing impairment
Sensorineural hearing impairment
Peripheral neuropathy
Skeletal muscle atrophy
Dysphagia

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

SOURCES: OMIM MESH ORPHANET

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I

Alternate names

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I Is also known as charcot-marie-tooth neuropathy, axonal, type 2l, charcot-marie-tooth disease, axonal, autosomal dominant, type 2l, cmt2i

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.

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

Scoliosis
Areflexia
Hyporeflexia
Pes cavus
Distal muscle weakness

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

SOURCES: ORPHANET OMIM

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

Alternate names

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I Is also known as charcot-marie-tooth neuropathy, type 2i

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

Muscle weakness
Peripheral neuropathy
Gait disturbance
Areflexia
Hyporeflexia

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

SOURCES: OMIM

CHARCOT-MARIE-TOOTH DISEASE TYPE 4E

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 4E Is also known as charcot-marie-tooth disease, type 4e, hypomyelination, severe congenital, autosomal recessive congenital hypomyelinating neuropathy, cmt4e, charcot-marie-tooth neuropathy, type 4e

Description

Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.

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

Generalized hypotonia
Scoliosis
Muscle weakness
Motor delay
Peripheral neuropathy

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

SOURCES: ORPHANET MESH OMIM

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

Alternate names

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as di-cmtd, cmtdid, charcot-marie-tooth neuropathy, dominant intermediate d

Description

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.

Most common symptoms of AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

Skeletal muscle atrophy
Areflexia
Hyporeflexia
Distal muscle weakness
Distal amyotrophy

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

SOURCES: ORPHANET OMIM

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN

Description

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN

SOURCES: ORPHANET

Search interest in MPZ

Potential gene panels for MPZ gene

CMT Advanced Evaluation - Dominant Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant that also includes the following genes: YARS LITAF MFN2 TRPV4 DNM2 HSPB8 EGR2 GARS HSPB1 MPZ

MPZ gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MPZ 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 MPZ gene

DEJERINE-SOTTAS SYNDROME

Alternate names

Description

ROUSSY-LÉVY SYNDROME

Alternate names

Most common symptoms of ROUSSY-LÉVY SYNDROME

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

Alternate names

Description

Most common symptoms of HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

Alternate names

Description

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Alternate names

Description

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J

Alternate names

Description

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

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I

Alternate names

Description

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

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

Alternate names

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I

CHARCOT-MARIE-TOOTH DISEASE TYPE 4E

Alternate names

Description

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

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN

Description

Search interest in MPZ

Potential gene panels for MPZ gene

CMT Advanced Evaluation - Dominant Panel

CMT Advanced Evaluation - Dominant, Demyelinating Panel

CMT Advanced Evaluation - Dominant, Axonal Panel

CMT Advanced Evaluation - Comprehensive Panel

CMT Advanced Evaluation - Axonal Panel

CMT Advanced Evaluation - Demyelinating Panel

MPZ DNA Sequencing Test Panel

Congenital Hypomyelination Evaluation Panel

CMT Advanced Evaluation - Initial Genetic Assessment Panel

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

Charcot-Marie-Tooth disease, type IB, 2I, 2J (MPZ) Panel

Charcot-Marie-Tooth disease type 2I (MPZ) Panel

Charcot-Marie-Tooth Syndrome Panel

Ataxia Exome Panel Panel

Charcot Marie Tooth Type 2I/2J/1B 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

Charcot-Marie-Tooth Panel

Myelin Protein Zero (MPZ) gene sequencing test Panel

MPZ. Complete sequencing Panel

MPZ. Complete sequencing Panel

MPZ. Complete sequencing Panel

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

MPZ, MFN2. MLPA testing Panel

MPZ. Complete sequencing Panel

Charcot-Marie-Tooth Disease type 1B/2I/2J (CMT1B/2I/2J, sequence analysis of MPZ gene) Panel

MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy Panel

Charcot-Marie-Tooth disease type 1B/2A (CMT1B/CMT2A, deletion/duplication analysis of MPZ and MFN2 genes) 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

MPZ-Related Neuropathies via MPZ Gene Sequencing with CNV Detection Panel

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