CMT2L
MCID: CHR353
MIFTS: 41

Charcot-Marie-Tooth Disease, Axonal, Type 2l (CMT2L)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2l 57 13 6 70
Cmt2l 57 12 58 72
Charcot-Marie-Tooth Disease Axonal Type 2l 12 72 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l 12 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l 57
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l 72
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l 57
Charcot-Marie-Tooth Neuropathy Axonal Type 2l 12
Charcot-Marie-Tooth Disease Neuronal Type 2l 72
Charcot-Marie-Tooth Neuropathy Type 2l 72
Charcot-Marie-Tooth Disease, Type 2i 70
Charcot-Marie-Tooth Disease 2l 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2l
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
genetic heterogeneity (see cmt2a )
age at onset 15 to 33 years


HPO:

31
charcot-marie-tooth disease, axonal, type 2l:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110174
OMIM® 57 608673
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C3888087
Orphanet 58 ORPHA99945
MedGen 41 C1837552
UMLS 70 C1837552 C3888087

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

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 2L: An 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 2l, also known as cmt2l, is related to sensory peripheral neuropathy and charcot-marie-tooth disease, axonal, type 2j. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2l is HSPB8 (Heat Shock Protein Family B (Small) Member 8), and among its related pathways/superpathways are Amoebiasis and Mitophagy - animal. Related phenotypes are scoliosis and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the HSPB8 gene.

More information from OMIM: 608673 PS118220

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

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 2l via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 30.0 SPTLC1 MPZ MFN2 GDAP1
2 charcot-marie-tooth disease, axonal, type 2j 30.0 NEFL MPZ GDAP1
3 charcot-marie-tooth disease, demyelinating, type 1b 29.4 NEFL MPZ MFN2 GDAP1 GARS1
4 charcot-marie-tooth disease, axonal, type 2i 29.1 NEFL MPZ KIF1B HSPB8 GDAP1 GARS1
5 charcot-marie-tooth disease, demyelinating, type 1a 29.0 SPTLC1 NEFL MPZ MFN2 GDAP1
6 charcot-marie-tooth disease, axonal, type 2f 27.5 RAB7A NEFL MPZ MFN2 KIF1B HSPB8
7 tooth disease 27.3 SPTLC1 RAB7A NEFL MPZ MFN2 KIF1B
8 charcot-marie-tooth disease 26.4 SPTLC1 RAB7B RAB7A NEFL MPZ MFN2
9 charcot-marie-tooth disease type 2l 11.6
10 giant axonal neuropathy 10.3 NEFL DCAF8
11 myopathy, myofibrillar, 6 10.3 HSPB8 DCAF8
12 neuronopathy, distal hereditary motor, type iia 10.3 HSPB8 CRYAA
13 myopathy, myofibrillar, 2 10.3 HSPB8 CRYAA
14 spinal muscular atrophy with lower extremity predominance 10.3 GDAP1 GARS1
15 charcot-marie-tooth disease, axonal, type 2k 10.3 HSPB8 GDAP1
16 pupil disease 10.2 MPZ GDAP1
17 argyll robertson pupil 10.2 MPZ GDAP1
18 charcot-marie-tooth disease, axonal, type 2n 10.2 GDAP1 GARS1
19 abnormal pupillary function 10.2 MPZ GDAP1
20 charcot-marie-tooth disease, dominant intermediate a 10.2 MPZ GDAP1
21 neuronopathy, distal hereditary motor, type iib 10.2 HSPB1 GARS1
22 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GDAP1
23 charcot-marie-tooth disease, dominant intermediate e 10.2 MPZ GDAP1
24 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 HSPB8 CRYAA
25 amyotrophic neuralgia 10.2 MPZ DCAF8
26 slowed nerve conduction velocity, autosomal dominant 10.2 NEFL MPZ
27 bscl2-related neurologic disorders/seipinopathy 10.2 GARS1 BSCL2
28 brachial plexus neuropathy 10.2 MPZ DCAF8
29 genetic motor neuron disease 10.2 MPZ MFN2
30 giant axonal neuropathy 2 10.2 NEFL HSPB8 DCAF8
31 optic atrophy 3, autosomal dominant 10.2 MFN2 CRYAA
32 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
33 charcot-marie-tooth disease, type 4b3 10.2 MPZ GDAP1
34 mononeuropathy 10.2 MPZ DCAF8
35 charcot-marie-tooth disease, demyelinating, type 4f 10.1 MPZ GDAP1
36 myofibrillar myopathy 10.1 HSPB8 DCAF8 CRYAA
37 charcot-marie-tooth disease, type 4h 10.1 MPZ GDAP1
38 charcot-marie-tooth disease, recessive intermediate a 10.1 MFN2 HSPB8 GDAP1
39 charcot-marie-tooth disease, type 4d 10.1 MPZ GDAP1
40 mfn2 hereditary motor and sensory neuropathy 10.1 MFN2 KIF1B
41 charcot-marie-tooth disease type 2a 10.1 MFN2 KIF1B
42 charcot-marie-tooth disease, demyelinating, type 1d 10.1 MPZ GDAP1 GARS1
43 cortical dysplasia, complex, with other brain malformations 6 10.1 HSPB1 GDAP1
44 charcot-marie-tooth disease, dominant intermediate d 10.1 MPZ KIF1B
45 spastic paraplegia 17, autosomal dominant 10.1 HSPB8 GARS1 BSCL2
46 charcot-marie-tooth disease, type 4c 10.0 MPZ GDAP1
47 hereditary neuropathies 10.0 MPZ MFN2 HSPB1
48 charcot-marie-tooth disease, type 4b1 10.0 RAB7A MPZ GDAP1
49 tertiary neurosyphilis 10.0 SPTLC1 NEFL
50 polyneuropathy 9.9 MPZ MFN2 GDAP1

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



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

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 hyporeflexia 31 HP:0001265
5 distal muscle weakness 31 HP:0002460
6 distal sensory impairment 31 HP:0002936
7 distal amyotrophy 31 HP:0003693
8 peripheral axonal neuropathy 31 HP:0003477
9 emg: chronic denervation signs 31 HP:0003444
10 decreased amplitude of sensory action potentials 31 HP:0007078
11 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM®:

608673 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2l:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 BSCL2 GARS1 GDAP1 HSPB8 KIF1B MFN2
2 nervous system MP:0003631 9.28 BSCL2 GARS1 GDAP1 HSPB8 KIF1B MFN2

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

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

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

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

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

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

(show all 16)
# Title Authors PMID Year
1
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. 6 57 61
15565283 2005
2
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. 6 57 61
15021985 2004
3
Mutant HSPB8 causes motor neuron-specific neurite degeneration. 6 61
20538880 2010
4
Genetic heterogeneity of motor neuropathies. 6
28251916 2017
5
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 6
26718575 2016
6
HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. 6
21985219 2011
7
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 6
15122253 2004
8
L-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways. 61
28747872 2017
9
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L. 61
23796487 2013
10
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients. 61
22595202 2012
11
[Roles of axonal transport affected by K141N mutant HSP22 in the pathogenesis of CMT2L]. 61
22490975 2012
12
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 61
18832141 2008
13
[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L]. 61
17160934 2006
14
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L]. 61
16604494 2006
15
[Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family]. 61
16331815 2005
16
Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease. 61
16086267 2005

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

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

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPB8 NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) SNV Pathogenic 560412 rs1565929090 GRCh37: 12:119624884-119624884
GRCh38: 12:119187079-119187079
2 HSPB8 NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) SNV Pathogenic 2619 rs104894345 GRCh37: 12:119624885-119624885
GRCh38: 12:119187080-119187080
3 HSPB8 NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) SNV Pathogenic 2618 rs104894351 GRCh37: 12:119624883-119624883
GRCh38: 12:119187078-119187078
4 HSPB8 NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) SNV Conflicting interpretations of pathogenicity 307417 rs35909818 GRCh37: 12:119617383-119617383
GRCh38: 12:119179578-119179578
5 HSPB8 NM_014365.2(HSPB8):c.432-10T>A SNV Conflicting interpretations of pathogenicity 464510 rs368810689 GRCh37: 12:119631494-119631494
GRCh38: 12:119193689-119193689
6 HSPB8 NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) SNV Uncertain significance 880624 GRCh37: 12:119617280-119617280
GRCh38: 12:119179475-119179475
7 HSPB8 NM_014365.3(HSPB8):c.*788C>T SNV Uncertain significance 882104 GRCh37: 12:119632451-119632451
GRCh38: 12:119194646-119194646
8 HSPB8 NM_014365.3(HSPB8):c.*860T>C SNV Uncertain significance 883245 GRCh37: 12:119632523-119632523
GRCh38: 12:119194718-119194718
9 HSPB8 NM_014365.3(HSPB8):c.*123G>A SNV Uncertain significance 883984 GRCh37: 12:119631786-119631786
GRCh38: 12:119193981-119193981
10 HSPB8 NM_014365.3(HSPB8):c.*330A>T SNV Uncertain significance 883985 GRCh37: 12:119631993-119631993
GRCh38: 12:119194188-119194188
11 HSPB8 NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu) SNV Uncertain significance 639762 rs35909818 GRCh37: 12:119617383-119617383
GRCh38: 12:119179578-119179578
12 HSPB8 NM_014365.2(HSPB8):c.200G>T (p.Gly67Val) SNV Uncertain significance 642253 rs771852827 GRCh37: 12:119617317-119617317
GRCh38: 12:119179512-119179512
13 HSPB8 NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys) SNV Uncertain significance 653790 rs757293016 GRCh37: 12:119617367-119617367
GRCh38: 12:119179562-119179562
14 HSPB8 NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe) SNV Uncertain significance 654626 rs144662422 GRCh37: 12:119631544-119631544
GRCh38: 12:119193739-119193739
15 HSPB8 NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr) SNV Uncertain significance 659622 rs1592932884 GRCh37: 12:119631574-119631574
GRCh38: 12:119193769-119193769
16 HSPB8 NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys) SNV Uncertain significance 934552 GRCh37: 12:119617160-119617160
GRCh38: 12:119179355-119179355
17 HSPB8 NM_014365.3(HSPB8):c.241G>A (p.Val81Met) SNV Uncertain significance 935165 GRCh37: 12:119617358-119617358
GRCh38: 12:119179553-119179553
18 HSPB8 NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn) SNV Uncertain significance 953419 GRCh37: 12:119617428-119617428
GRCh38: 12:119179623-119179623
19 HSPB8 NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe) SNV Uncertain significance 953635 GRCh37: 12:119631628-119631628
GRCh38: 12:119193823-119193823
20 HSPB8 NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp) SNV Uncertain significance 968767 GRCh37: 12:119617328-119617328
GRCh38: 12:119179523-119179523
21 HSPB8 NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) SNV Uncertain significance 533138 rs771995241 GRCh37: 12:119631652-119631652
GRCh38: 12:119193847-119193847
22 HSPB8 NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala) SNV Uncertain significance 565478 rs1000728639 GRCh37: 12:119631595-119631595
GRCh38: 12:119193790-119193790
23 HSPB8 NM_014365.2(HSPB8):c.201C>T (p.Gly67=) SNV Uncertain significance 566437 rs1565927038 GRCh37: 12:119617318-119617318
GRCh38: 12:119179513-119179513
24 HSPB8 NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) SNV Uncertain significance 568122 rs1565930539 GRCh37: 12:119631509-119631509
GRCh38: 12:119193704-119193704
25 HSPB8 NM_014365.2(HSPB8):c.164G>A (p.Arg55His) SNV Uncertain significance 570529 rs752911264 GRCh37: 12:119617281-119617281
GRCh38: 12:119179476-119179476
26 HSPB8 NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys) SNV Uncertain significance 575271 rs760688825 GRCh37: 12:119631613-119631613
GRCh38: 12:119193808-119193808
27 HSPB8 NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln) SNV Uncertain significance 581856 rs747381453 GRCh37: 12:119617182-119617182
GRCh38: 12:119179377-119179377
28 HSPB8 NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg) SNV Uncertain significance 582846 rs551013013 GRCh37: 12:119631642-119631642
GRCh38: 12:119193837-119193837
29 HSPB8 NM_014365.3(HSPB8):c.266dup (p.Pro90fs) Duplication Uncertain significance 804924 rs773017653 GRCh37: 12:119617376-119617377
GRCh38: 12:119179571-119179572
30 HSPB8 NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser) SNV Uncertain significance 834392 GRCh37: 12:119617127-119617127
GRCh38: 12:119179322-119179322
31 HSPB8 NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys) SNV Uncertain significance 863634 GRCh37: 12:119617397-119617397
GRCh38: 12:119179592-119179592
32 HSPB8 NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) SNV Uncertain significance 216679 rs863224767 GRCh37: 12:119631608-119631608
GRCh38: 12:119193803-119193803
33 HSPB8 NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) SNV Uncertain significance 240906 rs771827550 GRCh37: 12:119617233-119617233
GRCh38: 12:119179428-119179428
34 HSPB8 NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) SNV Uncertain significance 464509 rs35909818 GRCh37: 12:119617383-119617383
GRCh38: 12:119179578-119179578
35 HSPB8 NM_014365.2(HSPB8):c.*67T>G SNV Uncertain significance 307420 rs886049026 GRCh37: 12:119631730-119631730
GRCh38: 12:119193925-119193925
36 HSPB8 NM_014365.2(HSPB8):c.-489G>A SNV Uncertain significance 307409 rs886049023 GRCh37: 12:119616629-119616629
GRCh38: 12:119178824-119178824
37 HSPB8 NM_014365.2(HSPB8):c.-314T>C SNV Uncertain significance 307412 rs754447057 GRCh37: 12:119616804-119616804
GRCh38: 12:119178999-119178999
38 HSPB8 NM_014365.2(HSPB8):c.-172G>C SNV Uncertain significance 307415 rs886049025 GRCh37: 12:119616946-119616946
GRCh38: 12:119179141-119179141
39 HSPB8 NM_014365.2(HSPB8):c.*504T>C SNV Uncertain significance 307422 rs886049027 GRCh37: 12:119632167-119632167
GRCh38: 12:119194362-119194362
40 HSPB8 NM_014365.2(HSPB8):c.*803T>C SNV Uncertain significance 307430 rs886049029 GRCh37: 12:119632466-119632466
GRCh38: 12:119194661-119194661
41 HSPB8 NM_014365.2(HSPB8):c.-480C>G SNV Uncertain significance 307410 rs886049024 GRCh37: 12:119616638-119616638
GRCh38: 12:119178833-119178833
42 HSPB8 NM_014365.2(HSPB8):c.-201G>T SNV Uncertain significance 307413 rs764259720 GRCh37: 12:119616917-119616917
GRCh38: 12:119179112-119179112
43 HSPB8 NM_014365.2(HSPB8):c.*648A>G SNV Uncertain significance 307427 rs770364674 GRCh37: 12:119632311-119632311
GRCh38: 12:119194506-119194506
44 HSPB8 NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) SNV Uncertain significance 464511 rs952834680 GRCh37: 12:119617126-119617126
GRCh38: 12:119179321-119179321
45 HSPB8 NM_014365.3(HSPB8):c.367+57del Deletion Uncertain significance 931761 GRCh37: 12:119617539-119617539
GRCh38: 12:119179734-119179734
46 HSPB8 NC_000012.12:g.119178791C>G SNV Uncertain significance 881961 GRCh37: 12:119616596-119616596
GRCh38: 12:119178791-119178791
47 HSPB8 NC_000012.12:g.119178894A>T SNV Uncertain significance 883131 GRCh37: 12:119616699-119616699
GRCh38: 12:119178894-119178894
48 HSPB8 NM_014365.3(HSPB8):c.461T>C (p.Val154Ala) SNV Uncertain significance 1006960 GRCh37: 12:119631533-119631533
GRCh38: 12:119193728-119193728
49 HSPB8 NC_000012.11:g.(?_119631494)_(119631673_?)dup Duplication Uncertain significance 1007967 GRCh37: 12:119631494-119631673
GRCh38:
50 HSPB8 NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) SNV Uncertain significance 240907 rs878854979 GRCh37: 12:119631584-119631584
GRCh38: 12:119193779-119193779

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

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

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

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2l according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 RAB7B RAB7A HSPB1
2 10.63 RAB7B RAB7A MFN2

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

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.8 NEFL KIF1B HSPB1

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.26 NEFL KIF1B
2 protein targeting to mitochondrion GO:0006626 9.16 MFN2 GDAP1
3 mitochondrial fusion GO:0008053 8.96 MFN2 GDAP1
4 phagosome-lysosome fusion GO:0090385 8.62 RAB7B RAB7A

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

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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