CMT2O
MCID: CHR668
MIFTS: 30

Charcot-Marie-Tooth Disease, Axonal, Type 2o (CMT2O)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2o 56 52 29 6 39 71
Cmt2o 56 52 58 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o 12 52 58
Charcot-Marie-Tooth Disease, Axonal, Type 20 56 29 13
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o 56 52
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o 56 52
Charcot-Marie-Tooth Neuropathy Axonal Type 2o 12 73
Charcot-Marie-Tooth Disease Axonal Type 2o 12 73
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o 73
Charcot-Marie-Tooth Disease Type 2o 52
Charcot-Marie-Tooth Disease 2o 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2o
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood
slowly progressive
one family has been reported (as of september 2011)
ambulation is usually maintained during adulthood


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110175
OMIM 56 614228
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA284232
MedGen 41 C3280220
UMLS 71 C3280220

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

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 2O: 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 2o, is also known as cmt2o. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2o is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Affiliated tissues include skin, and related phenotypes are pes cavus and falls

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

More information from OMIM: 614228 PS118220

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

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 HP:0001761
2 falls 31 HP:0002527
3 decreased motor nerve conduction velocity 31 HP:0003431
4 motor delay 31 HP:0001270
5 hyporeflexia 31 HP:0001265
6 limb muscle weakness 31 HP:0003690
7 frequent falls 31 HP:0002359
8 difficulty running 31 HP:0009046
9 distal muscle weakness 31 HP:0002460
10 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
delayed motor development
learning difficulties (less common)

Neurologic Peripheral Nervous System:
hyporeflexia
difficulty running
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
normal or mildly decreased motor nerve conduction velocity (ncv)
more
Muscle Soft Tissue:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy

Clinical features from OMIM:

614228

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2o 29 DYNC1H1
2 Charcot-Marie-Tooth Disease, Axonal, Type 20 29

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

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

40
Skin

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

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

# Title Authors PMID Year
1
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 56 6
21820100 2011
2
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 6
22847149 2012
3
Mutations in dynein link motor neuron degeneration to defects in retrograde transport. 56
12730604 2003
4
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
5
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
6
Mice with an autosomal dominant Charcot-Marie-Tooth type 2O disease mutation in both dynein alleles display severe moto-sensory phenotypes. 61
31427617 2019
7
A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 61
29379136 2018

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

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1H1 NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)SNV Pathogenic 372934 rs1057518083 14:102452889-102452889 14:101986552-101986552
2 DYNC1H1 NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)SNV Pathogenic/Likely pathogenic 139652 rs587780564 14:102452354-102452354 14:101986017-101986017
3 DYNC1H1 NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)SNV Likely pathogenic 373213 rs1057518287 14:102474582-102474582 14:102008245-102008245
4 DYNC1H1 NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)SNV Likely pathogenic 572088 rs1567019064 14:102499482-102499482 14:102033145-102033145
5 DYNC1H1 NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)SNV Likely pathogenic 666296 14:102446124-102446124 14:101979787-101979787
6 DYNC1H1 NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)SNV Likely pathogenic 803047 14:102446870-102446870 14:101980533-101980533
7 DYNC1H1 NM_001376.5(DYNC1H1):c.3961-2A>GSNV Likely pathogenic 803048 14:102466621-102466621 14:102000284-102000284
8 DYNC1H1 NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)SNV Likely pathogenic 803050 14:102496526-102496526 14:102030189-102030189
9 DYNC1H1 NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)SNV Conflicting interpretations of pathogenicity 657853 14:102516218-102516218 14:102049881-102049881
10 DYNC1H1 NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)SNV Conflicting interpretations of pathogenicity 625933 rs114906811 14:102508439-102508439 14:102042102-102042102
11 DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)SNV Conflicting interpretations of pathogenicity 374099 rs879253979 14:102446288-102446288 14:101979951-101979951
12 DYNC1H1 NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)SNV Conflicting interpretations of pathogenicity 373991 rs139842853 14:102471451-102471451 14:102005114-102005114
13 DYNC1H1 NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)SNV Conflicting interpretations of pathogenicity 384776 rs1057522046 14:102452071-102452071 14:101985734-101985734
14 DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)SNV Conflicting interpretations of pathogenicity 30029 rs387906738 14:102446843-102446843 14:101980506-101980506
15 DYNC1H1 NM_001376.5(DYNC1H1):c.12102+6G>ASNV Conflicting interpretations of pathogenicity 128923 rs377669980 14:102508077-102508077 14:102041740-102041740
16 DYNC1H1 NM_001376.5(DYNC1H1):c.4075-5G>ASNV Conflicting interpretations of pathogenicity 282948 rs750127672 14:102467286-102467286 14:102000949-102000949
17 DYNC1H1 NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)SNV Conflicting interpretations of pathogenicity 312644 rs201817995 14:102494117-102494117 14:102027780-102027780
18 DYNC1H1 NM_001376.5(DYNC1H1):c.11460+4G>ASNV Conflicting interpretations of pathogenicity 312652 rs201518717 14:102505595-102505595 14:102039258-102039258
19 DYNC1H1 NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)SNV Conflicting interpretations of pathogenicity 246279 rs547205132 14:102514219-102514219 14:102047882-102047882
20 DYNC1H1 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)SNV Conflicting interpretations of pathogenicity 197195 rs794727634 14:102446289-102446289 14:101979952-101979952
21 DYNC1H1 NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)SNV Conflicting interpretations of pathogenicity 210872 rs538791873 14:102472446-102472446 14:102006109-102006109
22 DYNC1H1 NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)SNV Conflicting interpretations of pathogenicity 210873 rs140841480 14:102476187-102476187 14:102009850-102009850
23 DYNC1H1 NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)SNV Conflicting interpretations of pathogenicity 210882 rs797045535 14:102483494-102483494 14:102017157-102017157
24 DYNC1H1 NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)SNV Conflicting interpretations of pathogenicity 128925 rs587780330 14:102481651-102481651 14:102015314-102015314
25 DYNC1H1 NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)SNV Conflicting interpretations of pathogenicity 239001 rs151001016 14:102474668-102474668 14:102008331-102008331
26 DYNC1H1 NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)SNV Conflicting interpretations of pathogenicity 238994 rs141925609 14:102514235-102514235 14:102047898-102047898
27 DYNC1H1 NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)SNV Conflicting interpretations of pathogenicity 387284 rs750305144 14:102449585-102449585 14:101983248-101983248
28 DYNC1H1 NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)SNV Conflicting interpretations of pathogenicity 390612 rs760971556 14:102452389-102452389 14:101986052-101986052
29 DYNC1H1 NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)SNV Conflicting interpretations of pathogenicity 380403 rs149496322 14:102500421-102500421 14:102034084-102034084
30 DYNC1H1 NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)SNV Conflicting interpretations of pathogenicity 377822 rs747829220 14:102514171-102514171 14:102047834-102047834
31 DYNC1H1 NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met)SNV Conflicting interpretations of pathogenicity 472522 rs773725715 14:102452028-102452028 14:101985691-101985691
32 DYNC1H1 NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)SNV Conflicting interpretations of pathogenicity 516911 rs35092963 14:102452938-102452938 14:101986601-101986601
33 DYNC1H1 NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)SNV Conflicting interpretations of pathogenicity 512377 rs777387819 14:102460578-102460578 14:101994241-101994241
34 DYNC1H1 NM_001376.5(DYNC1H1):c.2869-3C>TSNV Conflicting interpretations of pathogenicity 513201 rs750614475 14:102457861-102457861 14:101991524-101991524
35 DYNC1H1 NM_001376.5(DYNC1H1):c.8344-4A>GSNV Conflicting interpretations of pathogenicity 513721 rs200913985 14:102486226-102486226 14:102019889-102019889
36 DYNC1H1 NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)SNV Conflicting interpretations of pathogenicity 514404 rs374214760 14:102504829-102504829 14:102038492-102038492
37 DYNC1H1 NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=)SNV Conflicting interpretations of pathogenicity 539782 rs778273904 14:102463449-102463449 14:101997112-101997112
38 DYNC1H1 NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile)SNV Uncertain significance 539753 rs781320162 14:102452840-102452840 14:101986503-101986503
39 DYNC1H1 NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu)SNV Uncertain significance 539759 rs867890249 14:102460626-102460626 14:101994289-101994289
40 DYNC1H1 NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val)indel Uncertain significance 539762 rs1555407906 14:102446161-102446162 14:101979824-101979825
41 DYNC1H1 NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly)SNV Uncertain significance 539766 rs1239478672 14:102449559-102449559 14:101983222-101983222
42 DYNC1H1 NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp)SNV Uncertain significance 539789 rs776102509 14:102449927-102449927 14:101983590-101983590
43 DYNC1H1 NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=)SNV Uncertain significance 472518 rs17541692 14:102515808-102515808 14:102049471-102049471
44 DYNC1H1 NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys)SNV Uncertain significance 472519 rs886050377 14:102516442-102516442 14:102050105-102050105
45 DYNC1H1 NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)SNV Uncertain significance 472564 rs377668381 14:102494100-102494100 14:102027763-102027763
46 DYNC1H1 NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu)SNV Uncertain significance 472565 rs905098104 14:102494411-102494411 14:102028074-102028074
47 DYNC1H1 NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)SNV Uncertain significance 472513 rs1555412242 14:102510795-102510795 14:102044458-102044458
48 DYNC1H1 NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile)SNV Uncertain significance 472532 rs367614843 14:102467632-102467632 14:102001295-102001295
49 DYNC1H1 NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys)SNV Uncertain significance 472539 rs1555409562 14:102471204-102471204 14:102004867-102004867
50 DYNC1H1 NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=)SNV Uncertain significance 472520 rs781130520 14:102516825-102516825 14:102050488-102050488

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

73
# Symbol AA change Variation ID SNP ID
1 DYNC1H1 p.His306Arg VAR_066651 rs387906738
2 DYNC1H1 p.Gln1194Arg VAR_072092
3 DYNC1H1 p.Glu3048Lys VAR_072093 rs155541094
4 DYNC1H1 p.Arg598Cys VAR_073157 rs587780564

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

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

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

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

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

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