CMT2O
MCID: CHR668
MIFTS: 32

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 57 29 6 40 72
Charcot-Marie-Tooth Disease, Axonal, Type 20 57 29 13
Cmt2o 57 59 74
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o 12 59
Charcot-Marie-Tooth Neuropathy Axonal Type 2o 12 74
Charcot-Marie-Tooth Disease Axonal Type 2o 12 74
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o 57
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o 74
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o 57
Charcot-Marie-Tooth Disease 2o 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2o
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110175
MeSH 44 D002607
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
Orphanet 59 ORPHA284232
MedGen 42 C3280220
UMLS 72 C3280220

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

UniProtKB/Swiss-Prot : 74 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, also known as charcot-marie-tooth disease, axonal, type 20, is related to charcot-marie-tooth disease type 2o and mental retardation, autosomal dominant 13. 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

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2o 12.0
2 mental retardation, autosomal dominant 13 9.2 LOC107984661 DYNC1H1

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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 falls 32 HP:0002527
3 decreased motor nerve conduction velocity 32 HP:0003431
4 motor delay 32 HP:0001270
5 hyporeflexia 32 HP:0001265
6 limb muscle weakness 32 HP:0003690
7 frequent falls 32 HP:0002359
8 difficulty running 32 HP:0009046
9 distal muscle weakness 32 HP:0002460
10 distal sensory impairment 32 HP:0002936

Symptoms via clinical synopsis from OMIM:

57
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. 8 71
21820100 2011
2
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 71
22847149 2012
3
Mutations in dynein link motor neuron degeneration to defects in retrograde transport. 8
12730604 2003
4
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
5
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
6
Mice with an autosomal dominant Charcot-Marie-Tooth type 2O disease mutation in both dynein alleles display severe moto-sensory phenotypes. 38
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. 38
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 441)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1H1 NM_001376.5(DYNC1H1): c.2327C> T (p.Pro776Leu) single nucleotide variant Pathogenic rs1057518083 14:102452889-102452889 14:101986552-101986552
2 DYNC1H1 NM_001376.5(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 14:102452354-102452354 14:101986017-101986017
3 DYNC1H1 NM_001376.5(DYNC1H1): c.5885G> A (p.Arg1962His) single nucleotide variant Likely pathogenic rs1057518287 14:102474582-102474582 14:102008245-102008245
4 DYNC1H1 NM_001376.5(DYNC1H1): c.10160T> C (p.Leu3387Pro) single nucleotide variant Likely pathogenic 14:102499482-102499482 14:102033145-102033145
5 DYNC1H1 NM_001376.5(DYNC1H1): c.8784A> G (p.Gln2928=) single nucleotide variant Conflicting interpretations of pathogenicity rs149753029 14:102493523-102493523 14:102027186-102027186
6 DYNC1H1 NM_001376.5(DYNC1H1): c.12514-9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs74874468 14:102510203-102510203 14:102043866-102043866
7 DYNC1H1 NM_001376.5(DYNC1H1): c.13149C> T (p.Thr4383=) single nucleotide variant Conflicting interpretations of pathogenicity rs375767483 14:102514296-102514296 14:102047959-102047959
8 DYNC1H1 NM_001376.5(DYNC1H1): c.13764G> A (p.Thr4588=) single nucleotide variant Conflicting interpretations of pathogenicity rs35079638 14:102516487-102516487 14:102050150-102050150
9 DYNC1H1 NM_001376.5(DYNC1H1): c.432G> A (p.Ser144=) single nucleotide variant Conflicting interpretations of pathogenicity rs533327200 14:102445743-102445743 14:101979406-101979406
10 DYNC1H1 NM_001376.5(DYNC1H1): c.2211T> A (p.Val737=) single nucleotide variant Conflicting interpretations of pathogenicity rs149902566 14:102452773-102452773 14:101986436-101986436
11 DYNC1H1 NM_001376.5(DYNC1H1): c.2721T> C (p.Ile907=) single nucleotide variant Conflicting interpretations of pathogenicity rs114021657 14:102455042-102455042 14:101988705-101988705
12 DYNC1H1 NM_001376.5(DYNC1H1): c.4854T> C (p.Tyr1618=) single nucleotide variant Conflicting interpretations of pathogenicity rs75094258 14:102469273-102469273 14:102002936-102002936
13 DYNC1H1 NM_001376.5(DYNC1H1): c.8304G> A (p.Pro2768=) single nucleotide variant Conflicting interpretations of pathogenicity rs77113510 14:102484914-102484914 14:102018577-102018577
14 DYNC1H1 NM_001376.5(DYNC1H1): c.9210G> A (p.Pro3070=) single nucleotide variant Conflicting interpretations of pathogenicity rs201817995 14:102494117-102494117 14:102027780-102027780
15 DYNC1H1 NM_001376.5(DYNC1H1): c.11460+4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201518717 14:102505595-102505595 14:102039258-102039258
16 DYNC1H1 NM_001376.5(DYNC1H1): c.12258C> T (p.Thr4086=) single nucleotide variant Conflicting interpretations of pathogenicity rs141242095 14:102508608-102508608 14:102042271-102042271
17 DYNC1H1 NM_001376.5(DYNC1H1): c.13219-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs17541650 14:102514844-102514844 14:102048507-102048507
18 DYNC1H1 NM_001376.5(DYNC1H1): c.13515+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200901713 14:102515927-102515927 14:102049590-102049590
19 DYNC1H1 NM_001376.5(DYNC1H1): c.3495T> C (p.Asp1165=) single nucleotide variant Conflicting interpretations of pathogenicity rs144359313 14:102461568-102461568 14:101995231-101995231
20 DYNC1H1 NM_001376.5(DYNC1H1): c.5295A> G (p.Ala1765=) single nucleotide variant Conflicting interpretations of pathogenicity rs139919955 14:102471435-102471435 14:102005098-102005098
21 DYNC1H1 NM_001376.5(DYNC1H1): c.13359C> T (p.Asn4453=) single nucleotide variant Conflicting interpretations of pathogenicity rs140033479 14:102514993-102514993 14:102048656-102048656
22 DYNC1H1 NM_001376.5(DYNC1H1): c.1704T> C (p.Leu568=) single nucleotide variant Conflicting interpretations of pathogenicity rs192959810 14:102452266-102452266 14:101985929-101985929
23 DYNC1H1 NM_001376.5(DYNC1H1): c.12705G> A (p.Pro4235=) single nucleotide variant Conflicting interpretations of pathogenicity rs199792795 14:102510631-102510631 14:102044294-102044294
24 DYNC1H1 NM_001376.5(DYNC1H1): c.345-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs202110844 14:102445646-102445646 14:101979309-101979309
25 DYNC1H1 NM_001376.5(DYNC1H1): c.1509A> G (p.Gln503=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057522046 14:102452071-102452071 14:101985734-101985734
26 DYNC1H1 NM_001376.5(DYNC1H1): c.1191C> T (p.Gly397=) single nucleotide variant Conflicting interpretations of pathogenicity rs750305144 14:102449585-102449585 14:101983248-101983248
27 DYNC1H1 NM_001376.5(DYNC1H1): c.1827C> G (p.Ile609Met) single nucleotide variant Conflicting interpretations of pathogenicity rs760971556 14:102452389-102452389 14:101986052-101986052
28 DYNC1H1 NM_001376.5(DYNC1H1): c.13024A> G (p.Lys4342Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs747829220 14:102514171-102514171 14:102047834-102047834
29 DYNC1H1 NM_001376.5(DYNC1H1): c.5311G> A (p.Gly1771Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139842853 14:102471451-102471451 14:102005114-102005114
30 DYNC1H1 NM_001376.5(DYNC1H1): c.751C> T (p.Arg251Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs879253979 14:102446288-102446288 14:101979951-101979951
31 DYNC1H1 NM_001376.5(DYNC1H1): c.2737G> A (p.Val913Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs372740994 14:102455058-102455058 14:101988721-101988721
32 DYNC1H1 NM_001376.5(DYNC1H1): c.10522C> A (p.Leu3508Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149496322 14:102500421-102500421 14:102034084-102034084
33 DYNC1H1 NM_001376.5(DYNC1H1): c.239A> G (p.Glu80Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs751092252 14:102431267-102431267 14:101964930-101964930
34 DYNC1H1 NM_001376.5(DYNC1H1): c.1466C> T (p.Thr489Met) single nucleotide variant Conflicting interpretations of pathogenicity rs773725715 14:102452028-102452028 14:101985691-101985691
35 DYNC1H1 NM_001376.5(DYNC1H1): c.2376C> T (p.Cys792=) single nucleotide variant Conflicting interpretations of pathogenicity rs35092963 14:102452938-102452938 14:101986601-101986601
36 DYNC1H1 NM_001376.5(DYNC1H1): c.3073C> T (p.Arg1025Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs777387819 14:102460578-102460578 14:101994241-101994241
37 DYNC1H1 NM_001376.5(DYNC1H1): c.2869-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs750614475 14:102457861-102457861 14:101991524-101991524
38 DYNC1H1 NM_001376.5(DYNC1H1): c.8344-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs200913985 14:102486226-102486226 14:102019889-102019889
39 DYNC1H1 NM_001376.5(DYNC1H1): c.10941G> A (p.Pro3647=) single nucleotide variant Conflicting interpretations of pathogenicity rs374214760 14:102504829-102504829 14:102038492-102038492
40 DYNC1H1 NM_001376.5(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs387906738 14:102446843-102446843 14:101980506-101980506
41 DYNC1H1 NM_001376.5(DYNC1H1): c.12102+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377669980 14:102508077-102508077 14:102041740-102041740
42 DYNC1H1 NM_001376.5(DYNC1H1): c.5001C> T (p.Asn1667=) single nucleotide variant Conflicting interpretations of pathogenicity rs117199211 14:102470972-102470972 14:102004635-102004635
43 DYNC1H1 NM_001376.5(DYNC1H1): c.752G> A (p.Arg251His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727634 14:102446289-102446289 14:101979952-101979952
44 DYNC1H1 NM_001376.5(DYNC1H1): c.8478A> G (p.Ala2826=) single nucleotide variant Conflicting interpretations of pathogenicity rs117846737 14:102486364-102486364 14:102020027-102020027
45 DYNC1H1 NM_001376.5(DYNC1H1): c.10887C> T (p.Phe3629=) single nucleotide variant Conflicting interpretations of pathogenicity rs141133453 14:102502958-102502958 14:102036621-102036621
46 DYNC1H1 NM_001376.5(DYNC1H1): c.7458G> T (p.Leu2486=) single nucleotide variant Conflicting interpretations of pathogenicity rs17541165 14:102482408-102482408 14:102016071-102016071
47 DYNC1H1 NM_001376.5(DYNC1H1): c.7758C> T (p.Ala2586=) single nucleotide variant Conflicting interpretations of pathogenicity rs145487328 14:102483246-102483246 14:102016909-102016909
48 DYNC1H1 NM_001376.5(DYNC1H1): c.7918G> A (p.Glu2640Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs797045535 14:102483494-102483494 14:102017157-102017157
49 DYNC1H1 NM_001376.5(DYNC1H1): c.8502A> G (p.Gln2834=) single nucleotide variant Conflicting interpretations of pathogenicity rs146220233 14:102486388-102486388 14:102020051-102020051
50 DYNC1H1 NM_001376.5(DYNC1H1): c.9138G> T (p.Ser3046=) single nucleotide variant Conflicting interpretations of pathogenicity rs34338935 14:102494045-102494045 14:102027708-102027708

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

74
# 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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