CMT2Z
MCID: CHR617
MIFTS: 36

Charcot-Marie-Tooth Disease, Axonal, Type 2z (CMT2Z)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle 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 72 29 6
Cmt2z 57 12 58 72
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z 57 72
Charcot-Marie-Tooth Disease Axonal Type 2z 12 15
Charcot-Marie-Tooth Neuropathy, Type 2z 57 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Morc2 Mutation 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z 12
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z 58
Charcot-Marie-Tooth Neuropathy Type 2z 12
Charcot-Marie-Tooth Disease, Type 2z 39
Charcot-Marie-Tooth Disease 2z 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
charcot-marie-tooth disease, axonal, type 2z:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


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

OMIM® : 57 Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant axonal 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. Rare occurrence of global developmental delay with impaired intellectual development or learning difficulties has been observed. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN), which highlights the clinical spectrum associated with MORC2 mutations and may render the classification of patients into one or the other disorder challenging (summary by Sevilla et al., 2016, Ando et al., 2017, Guillen Sacoto et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (616688) (Updated 05-Apr-2021)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2z, also known as cmt2z, is related to developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2z is MORC2 (MORC Family CW-Type Zinc Finger 2). Affiliated tissues include tongue, brain and spinal cord, and related phenotypes are reduced tendon reflexes and distal lower limb muscle weakness

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

UniProtKB/Swiss-Prot : 72 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.

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

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2z via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 10.9
2 charcot-marie-tooth disease 10.6
3 tooth disease 10.6
4 axonal neuropathy 10.5
5 spinal muscular atrophy 10.3
6 polyneuropathy 10.3
7 sensory peripheral neuropathy 10.3
8 muscular atrophy 10.3

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2z:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2z

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

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

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
2 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
3 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
4 sensory axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003390
5 mixed demyelinating and axonal polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007327
6 abnormality of peripheral somatosensory evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0100290
7 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
8 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
9 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
10 proximal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008948
11 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
12 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
13 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
14 motor axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007002
15 abnormal peripheral myelination 58 31 frequent (33%) Frequent (79-30%) HP:0003130
16 upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009129
17 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
18 abnormal motor nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0040131
19 impaired tactile sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010830
20 decreased distal sensory nerve action potential 58 31 frequent (33%) Frequent (79-30%) HP:0007230
21 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
22 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
23 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
24 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
25 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
26 proximal muscle weakness in lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0008994
27 proximal muscle weakness in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0008997
28 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
29 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
30 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
31 high pitched voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001620
32 congenital finger flexion contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0005879
33 generalized muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003324
34 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
35 urinary incontinence 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000020
36 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
37 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
38 distal upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008959
39 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
40 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
41 hand muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0030237
42 atrophy of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0006827
43 atopic dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001047
44 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
45 myokymia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002411
46 tongue atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012473
47 dyschromatopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007641
48 limb-girdle muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003325
49 limb-girdle muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003797
50 spinal muscular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
distal sensory impairment
fibrosis
hypo- or areflexia
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:
fasciculations
difficulty walking
myokymia
hypotonia
muscle cramps
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 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2z:

40
Tongue, Brain, Spinal Cord

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

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

(show all 12)
# Title Authors PMID Year
1
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. 57 6
28771897 2017
2
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations. 57 6
27105897 2016
3
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. 6 57
26659848 2016
4
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 57 6
26497905 2016
5
CMT with pyramidal features. Charcot-Marie-Tooth. 57 6
12601114 2003
6
Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred. 57 6
7964809 1994
7
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations. 6 61
30624633 2019
8
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. 57
32693025 2020
9
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2. 6
28581500 2017
10
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. 6
26912637 2016
11
A mathematical model for the spread of west nile virus in migratory and resident birds. 6
27105987 2016
12
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. 57
16087932 2005

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

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

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MORC2 NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) SNV Pathogenic 660304 rs1555938741 GRCh37: 22:31333951-31333951
GRCh38: 22:30937964-30937964
2 MORC2 NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) SNV Pathogenic 218308 rs864309504 GRCh37: 22:31345795-31345795
GRCh38: 22:30949809-30949809
3 MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) SNV Pathogenic 218307 rs864309503 GRCh37: 22:31337490-31337490
GRCh38: 22:30941503-30941503
4 MORC2 NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) SNV Likely pathogenic 254251 rs886037934 GRCh37: 22:31337537-31337537
GRCh38: 22:30941550-30941550
5 MORC2 NM_001303256.3(MORC2):c.956G>A (p.Arg319His) SNV Likely pathogenic 549672 rs1163530787 GRCh37: 22:31335977-31335977
GRCh38: 22:30939990-30939990
6 MORC2 NM_001303256.3(MORC2):c.263C>T (p.Ala88Val) SNV Likely pathogenic 695096 rs1602499659 GRCh37: 22:31345792-31345792
GRCh38: 22:30949806-30949806
7 MORC2 NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) SNV Conflicting interpretations of pathogenicity 432089 rs1555938796 GRCh37: 22:31334085-31334085
GRCh38: 22:30938098-30938098
8 MORC2 NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) SNV Uncertain significance 422103 rs1064795559 GRCh37: 22:31342360-31342360
GRCh38: 22:30946373-30946373
9 MORC2 NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) SNV Uncertain significance 475580 rs369384586 GRCh37: 22:31330091-31330091
GRCh38: 22:30934104-30934104
10 MORC2 NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp) SNV Uncertain significance 650086 rs369654856 GRCh37: 22:31335993-31335993
GRCh38: 22:30940006-30940006
11 MORC2 NM_001303256.3(MORC2):c.3030+6C>G SNV Uncertain significance 652067 rs1388656367 GRCh37: 22:31324000-31324000
GRCh38: 22:30928013-30928013
12 MORC2 NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp) SNV Uncertain significance 660082 rs751495570 GRCh37: 22:31329487-31329487
GRCh38: 22:30933500-30933500
13 MORC2 NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr) SNV Uncertain significance 663507 rs372297066 GRCh37: 22:31328629-31328629
GRCh38: 22:30932642-30932642
14 MORC2 NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln) SNV Uncertain significance 665062 rs201772330 GRCh37: 22:31330901-31330901
GRCh38: 22:30934914-30934914
15 MORC2 NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala) SNV Uncertain significance 854241 GRCh37: 22:31330785-31330785
GRCh38: 22:30934798-30934798
16 MORC2 NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu) SNV Uncertain significance 856184 GRCh37: 22:31328646-31328646
GRCh38: 22:30932659-30932659
17 MORC2 NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del) Deletion Uncertain significance 861562 GRCh37: 22:31324057-31324062
GRCh38: 22:30928070-30928075
18 MORC2 NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg) SNV Uncertain significance 941940 GRCh37: 22:31332991-31332991
GRCh38: 22:30937004-30937004
19 MORC2 NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) SNV Uncertain significance 694959 rs1602485728 GRCh37: 22:31333954-31333954
GRCh38: 22:30937967-30937967
20 MORC2 NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln) SNV Uncertain significance 945054 GRCh37: 22:31328930-31328930
GRCh38: 22:30932943-30932943
21 MORC2 NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg) SNV Uncertain significance 945467 GRCh37: 22:31331129-31331129
GRCh38: 22:30935142-30935142
22 MORC2 NM_001303256.3(MORC2):c.481A>C (p.Asn161His) SNV Uncertain significance 956779 GRCh37: 22:31338204-31338204
GRCh38: 22:30942217-30942217
23 MORC2 NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln) SNV Uncertain significance 957023 GRCh37: 22:31330985-31330985
GRCh38: 22:30934998-30934998
24 MORC2 NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly) SNV Uncertain significance 960873 GRCh37: 22:31338176-31338176
GRCh38: 22:30942189-30942189
25 MORC2 NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu) SNV Uncertain significance 546915 rs760522350 GRCh37: 22:31330769-31330769
GRCh38: 22:30934782-30934782
26 MORC2 NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) SNV Uncertain significance 475589 rs1485425350 GRCh37: 22:31324122-31324122
GRCh38: 22:30928135-30928135
27 MORC2 NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) SNV Uncertain significance 542278 rs780648306 GRCh37: 22:31330833-31330833
GRCh38: 22:30934846-30934846
28 MORC2 NM_001303256.3(MORC2):c.988-10A>G SNV Uncertain significance 542282 rs370880177 GRCh37: 22:31335703-31335703
GRCh38: 22:30939716-30939716
29 MORC2 NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) SNV Uncertain significance 542283 rs987083509 GRCh37: 22:31337429-31337429
GRCh38: 22:30941442-30941442
30 MORC2 NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) SNV Uncertain significance 542284 rs150980372 GRCh37: 22:31345797-31345797
GRCh38: 22:30949811-30949811
31 MORC2 NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr) SNV Uncertain significance 577381 rs770774096 GRCh37: 22:31331300-31331300
GRCh38: 22:30935313-30935313
32 MORC2 NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly) SNV Uncertain significance 640804 rs768569356 GRCh37: 22:31328411-31328411
GRCh38: 22:30932424-30932424
33 MORC2 NM_001303256.3(MORC2):c.2747+6T>C SNV Uncertain significance 643268 rs368417146 GRCh37: 22:31328526-31328526
GRCh38: 22:30932539-30932539
34 MORC2 NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly) SNV Uncertain significance 644376 rs200703581 GRCh37: 22:31331019-31331019
GRCh38: 22:30935032-30935032
35 MORC2 NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs) Deletion Uncertain significance 661601 rs1602486072 GRCh37: 22:31334180-31334183
GRCh38: 22:30938193-30938196
36 MORC2 NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu) SNV Uncertain significance 847818 GRCh37: 22:31330952-31330952
GRCh38: 22:30934965-30934965
37 MORC2 NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys) SNV Uncertain significance 852083 GRCh37: 22:31324156-31324156
GRCh38: 22:30928169-30928169
38 MORC2 NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu) SNV Uncertain significance 855733 GRCh37: 22:31328934-31328934
GRCh38: 22:30932947-30932947
39 MORC2 NM_001303256.3(MORC2):c.585C>T (p.Ser195=) SNV Uncertain significance 958133 GRCh37: 22:31338100-31338100
GRCh38: 22:30942113-30942113
40 MORC2 NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met) SNV Uncertain significance 959010 GRCh37: 22:31332512-31332512
GRCh38: 22:30936525-30936525
41 MORC2 NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met) SNV Uncertain significance 964245 GRCh37: 22:31324032-31324032
GRCh38: 22:30928045-30928045
42 MORC2 NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys) SNV Uncertain significance 969575 GRCh37: 22:31324095-31324095
GRCh38: 22:30928108-30928108
43 MORC2 NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) SNV Uncertain significance 992297 GRCh37: 22:31342426-31342426
GRCh38: 22:30946439-30946439
44 MORC2 NM_001303256.3(MORC2):c.2635C>G (p.Gln879Glu) SNV Uncertain significance 1037012 GRCh37: 22:31328644-31328644
GRCh38: 22:30932657-30932657
45 MORC2 NM_001303256.3(MORC2):c.2605G>A (p.Gly869Arg) SNV Uncertain significance 1038211 GRCh37: 22:31328674-31328674
GRCh38: 22:30932687-30932687
46 MORC2 NM_001303256.3(MORC2):c.802T>C (p.Ser268Pro) SNV Uncertain significance 1039303 GRCh37: 22:31337442-31337442
GRCh38: 22:30941455-30941455
47 MORC2 NM_001303256.3(MORC2):c.1133A>T (p.Asp378Val) SNV Uncertain significance 1039891 GRCh37: 22:31334133-31334133
GRCh38: 22:30938146-30938146
48 MORC2 NM_001303256.3(MORC2):c.712C>A (p.Arg238Ser) SNV Uncertain significance 1040383 GRCh37: 22:31337532-31337532
GRCh38: 22:30941545-30941545
49 MORC2 NM_001303256.3(MORC2):c.2432G>A (p.Arg811His) SNV Uncertain significance 1040397 GRCh37: 22:31328966-31328966
GRCh38: 22:30932979-30932979
50 MORC2 NM_001303256.3(MORC2):c.3028G>C (p.Glu1010Gln) SNV Uncertain significance 1040910 GRCh37: 22:31324008-31324008
GRCh38: 22:30928021-30928021

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

72
# 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

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

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2z.

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

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2z

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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