MCID: CHR617
MIFTS: 24

Charcot-Marie-Tooth Disease, Axonal, Type 2z

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2z

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2z:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2z 57 75 29 6
Cmt2z 57 12 59 75
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z 57 75
Charcot-Marie-Tooth Neuropathy, Type 2z 57 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Morc2 Mutation 59
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z 12
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z 59
Charcot-Marie-Tooth Disease Axonal Type 2z 12
Charcot-Marie-Tooth Neuropathy Type 2z 12
Charcot-Marie-Tooth Disease 2z 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
slowly progressive
some patients may become wheelchair-bound
asymmetric muscle involvement
onset in first or second decade (range infancy to young adults)


HPO:

32
charcot-marie-tooth disease, axonal, type 2z:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2z

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2Z: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2z, is also known as cmt2z. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2z is MORC2 (MORC Family CW-Type Zinc Finger 2). Related phenotypes are urinary incontinence and hearing impairment

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MORC2 gene on chromosome 22q12.

OMIM : 57 Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (616688)

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
distal sensory impairment
hypo- or areflexia
fibrosis
axonal sensorimotor peripheral neuropathy
sural nerve biopsy shows loss of large myelinated fibers
more
Neurologic Central Nervous System:
learning disabilities (in some patients)
delayed development (in some patients)
pyramidal signs (in some patients)
extensors plantar responses (in some patients)

Skeletal Hands:
claw hands (in some patients)

Head And Neck Neck:
neck flexion weakness, later in the disease course

Muscle Soft Tissue:
muscle cramps
fasciculations
difficulty walking
myokymia
hypotonia
more
Skeletal Spine:
scoliosis (in some patients)

Genitourinary Bladder:
urinary incontinence (in some patients)

Head And Neck Ears:
hearing loss (in 2 members of 1 family)

Voice:
high-pitched voice (1 family)


Clinical features from OMIM:

616688

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2z:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 urinary incontinence 32 occasional (7.5%) HP:0000020
2 hearing impairment 32 HP:0000365
3 split hand 32 occasional (7.5%) HP:0001171
4 global developmental delay 32 occasional (7.5%) HP:0001263
5 motor delay 32 occasional (7.5%) HP:0001270
6 hypertonia 32 occasional (7.5%) HP:0001276
7 generalized hypotonia 32 HP:0001290
8 high pitched voice 32 HP:0001620
9 pes cavus 32 HP:0001761
10 difficulty walking 32 HP:0002355
11 fasciculations 32 HP:0002380
12 myokymia 32 HP:0002411
13 scoliosis 32 occasional (7.5%) HP:0002650
14 distal sensory impairment 32 HP:0002936
15 muscle cramps 32 HP:0003394
16 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256
17 foot dorsiflexor weakness 32 HP:0009027

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2z:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2z 29 MORC2

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2z

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2z

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2z:

75
# Symbol AA change Variation ID SNP ID
1 MORC2 p.Ser87Leu VAR_076454 rs864309504
2 MORC2 p.Glu236Gly VAR_076456 rs886037934
3 MORC2 p.Arg252Trp VAR_076458 rs864309503

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2z:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 MORC2 NM_014941.3(MORC2): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs864309503 GRCh38 Chromosome 22, 30941503: 30941503
2 MORC2 NM_014941.3(MORC2): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs864309503 GRCh37 Chromosome 22, 31337490: 31337490
3 MORC2 NM_001303256.2(MORC2): c.260C> T (p.Ser87Leu) single nucleotide variant Pathogenic rs864309504 GRCh37 Chromosome 22, 31345795: 31345795
4 MORC2 NM_001303256.2(MORC2): c.260C> T (p.Ser87Leu) single nucleotide variant Pathogenic rs864309504 GRCh38 Chromosome 22, 30949809: 30949809
5 MORC2 NM_014941.3(MORC2): c.521A> G (p.Glu174Gly) single nucleotide variant Uncertain significance rs886037934 GRCh37 Chromosome 22, 31337537: 31337537
6 MORC2 NM_014941.3(MORC2): c.521A> G (p.Glu174Gly) single nucleotide variant Uncertain significance rs886037934 GRCh38 Chromosome 22, 30941550: 30941550
7 MORC2 NM_014941.3(MORC2): c.2829G> C (p.Leu943=) single nucleotide variant Likely benign rs765411579 GRCh37 Chromosome 22, 31324021: 31324021
8 MORC2 NM_014941.3(MORC2): c.2829G> C (p.Leu943=) single nucleotide variant Likely benign rs765411579 GRCh38 Chromosome 22, 30928034: 30928034
9 MORC2 NM_014941.3(MORC2): c.2728C> T (p.Arg910Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 31324122: 31324122
10 MORC2 NM_014941.3(MORC2): c.2728C> T (p.Arg910Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 30928135: 30928135
11 MORC2 NM_014941.3(MORC2): c.2568T> C (p.Cys856=) single nucleotide variant Benign rs767914603 GRCh37 Chromosome 22, 31328433: 31328433
12 MORC2 NM_014941.3(MORC2): c.2568T> C (p.Cys856=) single nucleotide variant Benign rs767914603 GRCh38 Chromosome 22, 30932446: 30932446
13 MORC2 NM_014941.3(MORC2): c.2512G> T (p.Ala838Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 31328581: 31328581
14 MORC2 NM_014941.3(MORC2): c.2512G> T (p.Ala838Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 30932594: 30932594
15 MORC2 NM_014941.3(MORC2): c.2283G> C (p.Arg761=) single nucleotide variant Benign rs41279971 GRCh37 Chromosome 22, 31328929: 31328929
16 MORC2 NM_014941.3(MORC2): c.2283G> C (p.Arg761=) single nucleotide variant Benign rs41279971 GRCh38 Chromosome 22, 30932942: 30932942
17 MORC2 NM_014941.3(MORC2): c.2052A> G (p.Glu684=) single nucleotide variant Benign rs41279975 GRCh37 Chromosome 22, 31330134: 31330134
18 MORC2 NM_014941.3(MORC2): c.2052A> G (p.Glu684=) single nucleotide variant Benign rs41279975 GRCh38 Chromosome 22, 30934147: 30934147
19 MORC2 NM_014941.3(MORC2): c.1858G> A (p.Val620Ile) single nucleotide variant Likely benign rs144493873 GRCh37 Chromosome 22, 31330917: 31330917
20 MORC2 NM_014941.3(MORC2): c.1858G> A (p.Val620Ile) single nucleotide variant Likely benign rs144493873 GRCh38 Chromosome 22, 30934930: 30934930
21 MORC2 NM_014941.3(MORC2): c.1049_1057dup (p.Val352_Asp353insGlyValVal) duplication Uncertain significance GRCh37 Chromosome 22, 31333928: 31333936
22 MORC2 NM_014941.3(MORC2): c.1049_1057dup (p.Val352_Asp353insGlyValVal) duplication Uncertain significance GRCh38 Chromosome 22, 30937941: 30937949
23 MORC2 NM_014941.3(MORC2): c.1038C> T (p.Gly346=) single nucleotide variant Uncertain significance rs754338828 GRCh37 Chromosome 22, 31333947: 31333947
24 MORC2 NM_014941.3(MORC2): c.1038C> T (p.Gly346=) single nucleotide variant Uncertain significance rs754338828 GRCh38 Chromosome 22, 30937960: 30937960
25 MORC2 NM_014941.3(MORC2): c.780A> T (p.Gly260=) single nucleotide variant Benign rs16989204 GRCh37 Chromosome 22, 31335967: 31335967
26 MORC2 NM_014941.3(MORC2): c.780A> T (p.Gly260=) single nucleotide variant Benign rs16989204 GRCh38 Chromosome 22, 30939980: 30939980
27 MORC2 NM_014941.3(MORC2): c.546C> T (p.Ala182=) single nucleotide variant Likely benign rs371351399 GRCh37 Chromosome 22, 31337512: 31337512
28 MORC2 NM_014941.3(MORC2): c.546C> T (p.Ala182=) single nucleotide variant Likely benign rs371351399 GRCh38 Chromosome 22, 30941525: 30941525
29 MORC2 NM_014941.3(MORC2): c.241-4A> G single nucleotide variant Likely benign rs749183153 GRCh37 Chromosome 22, 31338262: 31338262
30 MORC2 NM_014941.3(MORC2): c.241-4A> G single nucleotide variant Likely benign rs749183153 GRCh38 Chromosome 22, 30942275: 30942275
31 MORC2 NM_014941.3(MORC2): c.2538C> T (p.Ile846=) single nucleotide variant Likely benign rs147997704 GRCh38 Chromosome 22, 30932568: 30932568
32 MORC2 NM_014941.3(MORC2): c.2538C> T (p.Ile846=) single nucleotide variant Likely benign rs147997704 GRCh37 Chromosome 22, 31328555: 31328555
33 MORC2 NM_014941.3(MORC2): c.1743G> A (p.Lys581=) single nucleotide variant Likely benign GRCh38 Chromosome 22, 30935045: 30935045
34 MORC2 NM_014941.3(MORC2): c.1743G> A (p.Lys581=) single nucleotide variant Likely benign GRCh37 Chromosome 22, 31331032: 31331032
35 MORC2 NM_014941.3(MORC2): c.1582C> T (p.Leu528=) single nucleotide variant Likely benign rs146972491 GRCh38 Chromosome 22, 30935292: 30935292
36 MORC2 NM_014941.3(MORC2): c.1582C> T (p.Leu528=) single nucleotide variant Likely benign rs146972491 GRCh37 Chromosome 22, 31331279: 31331279
37 MORC2 NM_014941.3(MORC2): c.783C> A (p.Asp261Glu) single nucleotide variant Uncertain significance rs199973357 GRCh38 Chromosome 22, 30939977: 30939977
38 MORC2 NM_014941.3(MORC2): c.783C> A (p.Asp261Glu) single nucleotide variant Uncertain significance rs199973357 GRCh37 Chromosome 22, 31335964: 31335964
39 MORC2 NM_014941.3(MORC2): c.2895C> A (p.Leu965=) single nucleotide variant Likely benign rs149110760 GRCh37 Chromosome 22, 31322808: 31322808
40 MORC2 NM_014941.3(MORC2): c.2895C> A (p.Leu965=) single nucleotide variant Likely benign rs149110760 GRCh38 Chromosome 22, 30926821: 30926821
41 MORC2 NM_014941.3(MORC2): c.2763C> T (p.Ser921=) single nucleotide variant Likely benign rs372404658 GRCh37 Chromosome 22, 31324087: 31324087
42 MORC2 NM_014941.3(MORC2): c.2763C> T (p.Ser921=) single nucleotide variant Likely benign rs372404658 GRCh38 Chromosome 22, 30928100: 30928100
43 MORC2 NM_014941.3(MORC2): c.2758A> G (p.Thr920Ala) single nucleotide variant Uncertain significance rs771410096 GRCh38 Chromosome 22, 30928105: 30928105
44 MORC2 NM_014941.3(MORC2): c.2758A> G (p.Thr920Ala) single nucleotide variant Uncertain significance rs771410096 GRCh37 Chromosome 22, 31324092: 31324092
45 MORC2 NM_014941.3(MORC2): c.2463C> T (p.Val821=) single nucleotide variant Benign rs189421529 GRCh37 Chromosome 22, 31328630: 31328630
46 MORC2 NM_014941.3(MORC2): c.2463C> T (p.Val821=) single nucleotide variant Benign rs189421529 GRCh38 Chromosome 22, 30932643: 30932643
47 MORC2 NM_014941.3(MORC2): c.2195-7T> C single nucleotide variant Likely benign rs754758325 GRCh37 Chromosome 22, 31329024: 31329024
48 MORC2 NM_014941.3(MORC2): c.2195-7T> C single nucleotide variant Likely benign rs754758325 GRCh38 Chromosome 22, 30933037: 30933037
49 MORC2 NM_014941.3(MORC2): c.2095C> T (p.Arg699Trp) single nucleotide variant Uncertain significance rs369384586 GRCh37 Chromosome 22, 31330091: 31330091
50 MORC2 NM_014941.3(MORC2): c.2095C> T (p.Arg699Trp) single nucleotide variant Uncertain significance rs369384586 GRCh38 Chromosome 22, 30934104: 30934104

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2z

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Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2z

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