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). 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

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:

6 (show top 50) (show all 442) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 NC_000014.9:g.101979787T>Gundetermined variant Likely pathogenic 666296
6 DYNC1H1 NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)SNV Conflicting interpretations of pathogenicity 657853 14:102516218-102516218 14:102049881-102049881
7 DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)SNV Conflicting interpretations of pathogenicity 374099 rs879253979 14:102446288-102446288 14:101979951-101979951
8 DYNC1H1 NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)SNV Conflicting interpretations of pathogenicity 373991 rs139842853 14:102471451-102471451 14:102005114-102005114
9 DYNC1H1 NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)SNV Conflicting interpretations of pathogenicity 384776 rs1057522046 14:102452071-102452071 14:101985734-101985734
10 DYNC1H1 NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)SNV Conflicting interpretations of pathogenicity 312655 rs141242095 14:102508608-102508608 14:102042271-102042271
11 DYNC1H1 NM_001376.5(DYNC1H1):c.13219-9C>TSNV Conflicting interpretations of pathogenicity 312663 rs17541650 14:102514844-102514844 14:102048507-102048507
12 DYNC1H1 NM_001376.5(DYNC1H1):c.13515+8C>TSNV Conflicting interpretations of pathogenicity 312665 rs200901713 14:102515927-102515927 14:102049590-102049590
13 DYNC1H1 NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)SNV Conflicting interpretations of pathogenicity 312626 rs144359313 14:102461568-102461568 14:101995231-101995231
14 DYNC1H1 NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)SNV Conflicting interpretations of pathogenicity 312631 rs139919955 14:102471435-102471435 14:102005098-102005098
15 DYNC1H1 NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)SNV Conflicting interpretations of pathogenicity 312664 rs140033479 14:102514993-102514993 14:102048656-102048656
16 DYNC1H1 NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)SNV Conflicting interpretations of pathogenicity 312620 rs192959810 14:102452266-102452266 14:101985929-101985929
17 DYNC1H1 NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)SNV Conflicting interpretations of pathogenicity 312657 rs199792795 14:102510631-102510631 14:102044294-102044294
18 DYNC1H1 NM_001376.5(DYNC1H1):c.345-10T>GSNV Conflicting interpretations of pathogenicity 312617 rs202110844 14:102445646-102445646 14:101979309-101979309
19 DYNC1H1 NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)SNV Conflicting interpretations of pathogenicity 312642 rs149753029 14:102493523-102493523 14:102027186-102027186
20 DYNC1H1 NM_001376.5(DYNC1H1):c.12514-9C>ASNV Conflicting interpretations of pathogenicity 312656 rs74874468 14:102510203-102510203 14:102043866-102043866
21 DYNC1H1 NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)SNV Conflicting interpretations of pathogenicity 312660 rs375767483 14:102514296-102514296 14:102047959-102047959
22 DYNC1H1 NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)SNV Conflicting interpretations of pathogenicity 387284 rs750305144 14:102449585-102449585 14:101983248-101983248
23 DYNC1H1 NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)SNV Conflicting interpretations of pathogenicity 390612 rs760971556 14:102452389-102452389 14:101986052-101986052
24 DYNC1H1 NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)SNV Conflicting interpretations of pathogenicity 377822 rs747829220 14:102514171-102514171 14:102047834-102047834
25 DYNC1H1 NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)SNV Conflicting interpretations of pathogenicity 380403 rs149496322 14:102500421-102500421 14:102034084-102034084
26 DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)SNV Conflicting interpretations of pathogenicity 30029 rs387906738 14:102446843-102446843 14:101980506-101980506
27 DYNC1H1 NM_001376.5(DYNC1H1):c.12102+6G>ASNV Conflicting interpretations of pathogenicity 128923 rs377669980 14:102508077-102508077 14:102041740-102041740
28 DYNC1H1 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)SNV Conflicting interpretations of pathogenicity 195810 rs117199211 14:102470972-102470972 14:102004635-102004635
29 DYNC1H1 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)SNV Conflicting interpretations of pathogenicity 197195 rs794727634 14:102446289-102446289 14:101979952-101979952
30 DYNC1H1 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)SNV Conflicting interpretations of pathogenicity 197458 rs117846737 14:102486364-102486364 14:102020027-102020027
31 DYNC1H1 NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)SNV Conflicting interpretations of pathogenicity 198001 rs141133453 14:102502958-102502958 14:102036621-102036621
32 DYNC1H1 NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)SNV Conflicting interpretations of pathogenicity 128925 rs587780330 14:102481651-102481651 14:102015314-102015314
33 DYNC1H1 NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)SNV Conflicting interpretations of pathogenicity 210878 rs17541165 14:102482408-102482408 14:102016071-102016071
34 DYNC1H1 NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)SNV Conflicting interpretations of pathogenicity 210880 rs145487328 14:102483246-102483246 14:102016909-102016909
35 DYNC1H1 NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)SNV Conflicting interpretations of pathogenicity 210882 rs797045535 14:102483494-102483494 14:102017157-102017157
36 DYNC1H1 NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)SNV Conflicting interpretations of pathogenicity 210884 rs146220233 14:102486388-102486388 14:102020051-102020051
37 DYNC1H1 NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)SNV Conflicting interpretations of pathogenicity 210887 rs34338935 14:102494045-102494045 14:102027708-102027708
38 DYNC1H1 NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)SNV Conflicting interpretations of pathogenicity 210860 rs199679500 14:102504904-102504904 14:102038567-102038567
39 DYNC1H1 NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)SNV Conflicting interpretations of pathogenicity 210870 rs186932188 14:102467991-102467991 14:102001654-102001654
40 DYNC1H1 NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)SNV Conflicting interpretations of pathogenicity 210871 rs149395439 14:102471438-102471438 14:102005101-102005101
41 DYNC1H1 NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)SNV Conflicting interpretations of pathogenicity 210872 rs538791873 14:102472446-102472446 14:102006109-102006109
42 DYNC1H1 NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)SNV Conflicting interpretations of pathogenicity 210873 rs140841480 14:102476187-102476187 14:102009850-102009850
43 DYNC1H1 NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)SNV Conflicting interpretations of pathogenicity 210875 rs150888094 14:102481630-102481630 14:102015293-102015293
44 DYNC1H1 NM_001376.5(DYNC1H1):c.2719-6C>TSNV Conflicting interpretations of pathogenicity 210868 rs199763298 14:102455034-102455034 14:101988697-101988697
45 DYNC1H1 NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)SNV Conflicting interpretations of pathogenicity 210866 rs150286673 14:102515844-102515844 14:102049507-102049507
46 DYNC1H1 NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)SNV Conflicting interpretations of pathogenicity 239001 rs151001016 14:102474668-102474668 14:102008331-102008331
47 DYNC1H1 NM_001376.5(DYNC1H1):c.11596-7G>ASNV Conflicting interpretations of pathogenicity 238989 rs375593873 14:102505968-102505968 14:102039631-102039631
48 DYNC1H1 NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)SNV Conflicting interpretations of pathogenicity 238994 rs141925609 14:102514235-102514235 14:102047898-102047898
49 DYNC1H1 NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)SNV Conflicting interpretations of pathogenicity 238995 rs138571942 14:102516430-102516430 14:102050093-102050093
50 DYNC1H1 NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)SNV Conflicting interpretations of pathogenicity 246279 rs547205132 14:102514219-102514219 14:102047882-102047882

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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