CMT2O
MCID: CHR668
MIFTS: 26

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 58 30 6 41 74
Cmt2o 58 60 76
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o 12 60
Charcot-Marie-Tooth Neuropathy Axonal Type 2o 12 76
Charcot-Marie-Tooth Disease, Axonal, Type 20 58 13
Charcot-Marie-Tooth Disease Axonal Type 2o 12 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o 76
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o 58
Charcot-Marie-Tooth Disease 2o 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2o
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
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:

33
charcot-marie-tooth disease, axonal, type 2o:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110175
OMIM 58 614228
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA284232
MedGen 43 C3280220
UMLS 74 C3280220

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

UniProtKB/Swiss-Prot : 76 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 cmt2o, 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). 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.

Description from OMIM: 614228

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 11.9
2 mental retardation, autosomal dominant 13 9.5 DYNC1H1 LOC107984661

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 falls 33 HP:0002527
3 decreased motor nerve conduction velocity 33 HP:0003431
4 motor delay 33 HP:0001270
5 hyporeflexia 33 HP:0001265
6 limb muscle weakness 33 HP:0003690
7 frequent falls 33 HP:0002359
8 difficulty running 33 HP:0009046
9 distal muscle weakness 33 HP:0002460
10 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
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 30 DYNC1H1

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

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

42
Skin

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

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

# Title Authors Year
1
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. ( 22847149 )
2012
2
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. ( 21820100 )
2011

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

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

76
# 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
4 DYNC1H1 p.Arg598Cys VAR_073157 rs587780564

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

6 (show top 50) (show all 756)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh37 Chromosome 14, 102446843: 102446843
2 DYNC1H1 NM_001376.4(DYNC1H1): c.917A> G (p.His306Arg) single nucleotide variant Pathogenic rs387906738 GRCh38 Chromosome 14, 101980506: 101980506
3 DYNC1H1 NM_001376.4(DYNC1H1): c.12102+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377669980 GRCh37 Chromosome 14, 102508077: 102508077
4 DYNC1H1 NM_001376.4(DYNC1H1): c.12102+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377669980 GRCh38 Chromosome 14, 102041740: 102041740
5 DYNC1H1 NM_001376.4(DYNC1H1): c.2511A> G (p.Ala837=) single nucleotide variant Benign/Likely benign rs17512054 GRCh37 Chromosome 14, 102453073: 102453073
6 DYNC1H1 NM_001376.4(DYNC1H1): c.2511A> G (p.Ala837=) single nucleotide variant Benign/Likely benign rs17512054 GRCh38 Chromosome 14, 101986736: 101986736
7 DYNC1H1 NM_001376.4(DYNC1H1): c.7224C> T (p.Ala2408=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780330 GRCh37 Chromosome 14, 102481651: 102481651
8 DYNC1H1 NM_001376.4(DYNC1H1): c.7224C> T (p.Ala2408=) single nucleotide variant Conflicting interpretations of pathogenicity rs587780330 GRCh38 Chromosome 14, 102015314: 102015314
9 DYNC1H1 NM_001376.4(DYNC1H1): c.13181C> T (p.Thr4394Met) single nucleotide variant Likely benign rs149300055 GRCh37 Chromosome 14, 102514328: 102514328
10 DYNC1H1 NM_001376.4(DYNC1H1): c.13181C> T (p.Thr4394Met) single nucleotide variant Likely benign rs149300055 GRCh38 Chromosome 14, 102047991: 102047991
11 DYNC1H1 NM_001376.4(DYNC1H1): c.13372+4C> T single nucleotide variant Benign/Likely benign rs17541657 GRCh37 Chromosome 14, 102515010: 102515010
12 DYNC1H1 NM_001376.4(DYNC1H1): c.13372+4C> T single nucleotide variant Benign/Likely benign rs17541657 GRCh38 Chromosome 14, 102048673: 102048673
13 DYNC1H1 NM_001376.4(DYNC1H1): c.2625G> A (p.Ser875=) single nucleotide variant Benign/Likely benign rs17512082 GRCh37 Chromosome 14, 102453876: 102453876
14 DYNC1H1 NM_001376.4(DYNC1H1): c.2625G> A (p.Ser875=) single nucleotide variant Benign/Likely benign rs17512082 GRCh38 Chromosome 14, 101987539: 101987539
15 DYNC1H1 NM_001376.4(DYNC1H1): c.3909G> A (p.Ala1303=) single nucleotide variant Benign/Likely benign rs34690489 GRCh37 Chromosome 14, 102466430: 102466430
16 DYNC1H1 NM_001376.4(DYNC1H1): c.3909G> A (p.Ala1303=) single nucleotide variant Benign/Likely benign rs34690489 GRCh38 Chromosome 14, 102000093: 102000093
17 DYNC1H1 NM_001376.4(DYNC1H1): c.3993C> T (p.Gly1331=) single nucleotide variant Benign/Likely benign rs17540957 GRCh37 Chromosome 14, 102466655: 102466655
18 DYNC1H1 NM_001376.4(DYNC1H1): c.3993C> T (p.Gly1331=) single nucleotide variant Benign/Likely benign rs17540957 GRCh38 Chromosome 14, 102000318: 102000318
19 DYNC1H1 NM_001376.4(DYNC1H1): c.46T> C (p.Leu16=) single nucleotide variant Benign/Likely benign rs2273437 GRCh37 Chromosome 14, 102431074: 102431074
20 DYNC1H1 NM_001376.4(DYNC1H1): c.46T> C (p.Leu16=) single nucleotide variant Benign/Likely benign rs2273437 GRCh38 Chromosome 14, 101964737: 101964737
21 DYNC1H1 NM_001376.4(DYNC1H1): c.7137G> A (p.Leu2379=) single nucleotide variant Benign/Likely benign rs17512439 GRCh37 Chromosome 14, 102481564: 102481564
22 DYNC1H1 NM_001376.4(DYNC1H1): c.7137G> A (p.Leu2379=) single nucleotide variant Benign/Likely benign rs17512439 GRCh38 Chromosome 14, 102015227: 102015227
23 DYNC1H1 NM_001376.4(DYNC1H1): c.7449C> T (p.Ile2483=) single nucleotide variant Benign/Likely benign rs17541158 GRCh37 Chromosome 14, 102482399: 102482399
24 DYNC1H1 NM_001376.4(DYNC1H1): c.7449C> T (p.Ile2483=) single nucleotide variant Benign/Likely benign rs17541158 GRCh38 Chromosome 14, 102016062: 102016062
25 DYNC1H1 NM_001376.4(DYNC1H1): c.7524A> G (p.Leu2508=) single nucleotide variant Benign/Likely benign rs17541179 GRCh37 Chromosome 14, 102482736: 102482736
26 DYNC1H1 NM_001376.4(DYNC1H1): c.7524A> G (p.Leu2508=) single nucleotide variant Benign/Likely benign rs17541179 GRCh38 Chromosome 14, 102016399: 102016399
27 DYNC1H1 NM_001376.4(DYNC1H1): c.7632A> G (p.Glu2544=) single nucleotide variant Benign/Likely benign rs17512460 GRCh37 Chromosome 14, 102483120: 102483120
28 DYNC1H1 NM_001376.4(DYNC1H1): c.7632A> G (p.Glu2544=) single nucleotide variant Benign/Likely benign rs17512460 GRCh38 Chromosome 14, 102016783: 102016783
29 DYNC1H1 NM_001376.5(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
30 DYNC1H1 NM_001376.5(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh38 Chromosome 14, 101986017: 101986017
31 DYNC1H1 NM_001376.4(DYNC1H1): c.4533G> A (p.Pro1511=) single nucleotide variant Benign rs150900416 GRCh37 Chromosome 14, 102468009: 102468009
32 DYNC1H1 NM_001376.4(DYNC1H1): c.4533G> A (p.Pro1511=) single nucleotide variant Benign rs150900416 GRCh38 Chromosome 14, 102001672: 102001672
33 DYNC1H1 NM_001376.4(DYNC1H1): c.5001C> T (p.Asn1667=) single nucleotide variant Conflicting interpretations of pathogenicity rs117199211 GRCh37 Chromosome 14, 102470972: 102470972
34 DYNC1H1 NM_001376.4(DYNC1H1): c.5001C> T (p.Asn1667=) single nucleotide variant Conflicting interpretations of pathogenicity rs117199211 GRCh38 Chromosome 14, 102004635: 102004635
35 DYNC1H1 NM_001376.4(DYNC1H1): c.752G> A (p.Arg251His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727634 GRCh37 Chromosome 14, 102446289: 102446289
36 DYNC1H1 NM_001376.4(DYNC1H1): c.752G> A (p.Arg251His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727634 GRCh38 Chromosome 14, 101979952: 101979952
37 DYNC1H1 NM_001376.4(DYNC1H1): c.8478A> G (p.Ala2826=) single nucleotide variant Conflicting interpretations of pathogenicity rs117846737 GRCh37 Chromosome 14, 102486364: 102486364
38 DYNC1H1 NM_001376.4(DYNC1H1): c.8478A> G (p.Ala2826=) single nucleotide variant Conflicting interpretations of pathogenicity rs117846737 GRCh38 Chromosome 14, 102020027: 102020027
39 DYNC1H1 NM_001376.4(DYNC1H1): c.10887C> T (p.Phe3629=) single nucleotide variant Conflicting interpretations of pathogenicity rs141133453 GRCh37 Chromosome 14, 102502958: 102502958
40 DYNC1H1 NM_001376.4(DYNC1H1): c.10887C> T (p.Phe3629=) single nucleotide variant Conflicting interpretations of pathogenicity rs141133453 GRCh38 Chromosome 14, 102036621: 102036621
41 DYNC1H1 NM_001376.4(DYNC1H1): c.11942C> G (p.Thr3981Arg) single nucleotide variant Benign/Likely benign rs138428684 GRCh38 Chromosome 14, 102041574: 102041574
42 DYNC1H1 NM_001376.4(DYNC1H1): c.11942C> G (p.Thr3981Arg) single nucleotide variant Benign/Likely benign rs138428684 GRCh37 Chromosome 14, 102507911: 102507911
43 DYNC1H1 NM_001376.4(DYNC1H1): c.2719-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199763298 GRCh38 Chromosome 14, 101988697: 101988697
44 DYNC1H1 NM_001376.4(DYNC1H1): c.2719-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199763298 GRCh37 Chromosome 14, 102455034: 102455034
45 DYNC1H1 NM_001376.4(DYNC1H1): c.4395+2C> T single nucleotide variant Benign/Likely benign rs192594531 GRCh37 Chromosome 14, 102467693: 102467693
46 DYNC1H1 NM_001376.4(DYNC1H1): c.4395+2C> T single nucleotide variant Benign/Likely benign rs192594531 GRCh38 Chromosome 14, 102001356: 102001356
47 DYNC1H1 NM_001376.4(DYNC1H1): c.4515G> A (p.Ser1505=) single nucleotide variant Conflicting interpretations of pathogenicity rs186932188 GRCh38 Chromosome 14, 102001654: 102001654
48 DYNC1H1 NM_001376.4(DYNC1H1): c.4515G> A (p.Ser1505=) single nucleotide variant Conflicting interpretations of pathogenicity rs186932188 GRCh37 Chromosome 14, 102467991: 102467991
49 DYNC1H1 NM_001376.4(DYNC1H1): c.5298G> T (p.Leu1766=) single nucleotide variant Conflicting interpretations of pathogenicity rs149395439 GRCh38 Chromosome 14, 102005101: 102005101
50 DYNC1H1 NM_001376.4(DYNC1H1): c.5298G> T (p.Leu1766=) single nucleotide variant Conflicting interpretations of pathogenicity rs149395439 GRCh37 Chromosome 14, 102471438: 102471438

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

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

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

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