MCID: CHR668
MIFTS: 24

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

Categories: Genetic 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 73
Cmt2o 57 59 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o 12 59
Charcot-Marie-Tooth Neuropathy Axonal Type 2o 12 75
Charcot-Marie-Tooth Disease, Axonal, Type 20 57 13
Charcot-Marie-Tooth Disease Axonal Type 2o 12 75
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 75
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o 57
Charcot-Marie-Tooth Disease 2o 75

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:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614228
Disease Ontology 12 DOID:0110175
ICD10 33 G60.0
Orphanet 59 ORPHA284232
ICD10 via Orphanet 34 G60.0
MedGen 42 C3280220
MeSH 44 D002607
UMLS 73 C3280220

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

UniProtKB/Swiss-Prot : 75 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. Nerve conduction velocities are normal or slightly reduced.

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). Related phenotypes are pes cavus and decreased motor nerve conduction velocity

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

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 11.7
2 mental retardation, autosomal dominant 13 9.0 DYNC1H1 LOC107984661

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

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

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

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

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

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

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

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

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

75
# 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 606)
# 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.4533G> A (p.Pro1511=) single nucleotide variant Benign rs150900416 GRCh37 Chromosome 14, 102468009: 102468009
4 DYNC1H1 NM_001376.4(DYNC1H1): c.4533G> A (p.Pro1511=) single nucleotide variant Benign rs150900416 GRCh38 Chromosome 14, 102001672: 102001672
5 DYNC1H1 NM_001376.4(DYNC1H1): c.5001C> T (p.Asn1667=) single nucleotide variant Conflicting interpretations of pathogenicity rs117199211 GRCh37 Chromosome 14, 102470972: 102470972
6 DYNC1H1 NM_001376.4(DYNC1H1): c.5001C> T (p.Asn1667=) single nucleotide variant Conflicting interpretations of pathogenicity rs117199211 GRCh38 Chromosome 14, 102004635: 102004635
7 DYNC1H1 NM_001376.4(DYNC1H1): c.752G> A (p.Arg251His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727634 GRCh37 Chromosome 14, 102446289: 102446289
8 DYNC1H1 NM_001376.4(DYNC1H1): c.752G> A (p.Arg251His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727634 GRCh38 Chromosome 14, 101979952: 101979952
9 DYNC1H1 NM_001376.4(DYNC1H1): c.8478A> G (p.Ala2826=) single nucleotide variant Conflicting interpretations of pathogenicity rs117846737 GRCh37 Chromosome 14, 102486364: 102486364
10 DYNC1H1 NM_001376.4(DYNC1H1): c.8478A> G (p.Ala2826=) single nucleotide variant Conflicting interpretations of pathogenicity rs117846737 GRCh38 Chromosome 14, 102020027: 102020027
11 DYNC1H1 NM_001376.4(DYNC1H1): c.10887C> T (p.Phe3629=) single nucleotide variant Conflicting interpretations of pathogenicity rs141133453 GRCh37 Chromosome 14, 102502958: 102502958
12 DYNC1H1 NM_001376.4(DYNC1H1): c.10887C> T (p.Phe3629=) single nucleotide variant Conflicting interpretations of pathogenicity rs141133453 GRCh38 Chromosome 14, 102036621: 102036621
13 DYNC1H1 NM_001376.4(DYNC1H1): c.11942C> G (p.Thr3981Arg) single nucleotide variant Benign/Likely benign rs138428684 GRCh37 Chromosome 14, 102507911: 102507911
14 DYNC1H1 NM_001376.4(DYNC1H1): c.11942C> G (p.Thr3981Arg) single nucleotide variant Benign/Likely benign rs138428684 GRCh38 Chromosome 14, 102041574: 102041574
15 DYNC1H1 NM_001376.4(DYNC1H1): c.2719-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199763298 GRCh38 Chromosome 14, 101988697: 101988697
16 DYNC1H1 NM_001376.4(DYNC1H1): c.2719-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199763298 GRCh37 Chromosome 14, 102455034: 102455034
17 DYNC1H1 NM_001376.4(DYNC1H1): c.4395+2C> T single nucleotide variant Benign/Likely benign rs192594531 GRCh37 Chromosome 14, 102467693: 102467693
18 DYNC1H1 NM_001376.4(DYNC1H1): c.4395+2C> T single nucleotide variant Benign/Likely benign rs192594531 GRCh38 Chromosome 14, 102001356: 102001356
19 DYNC1H1 NM_001376.4(DYNC1H1): c.4515G> A (p.Ser1505=) single nucleotide variant Conflicting interpretations of pathogenicity rs186932188 GRCh38 Chromosome 14, 102001654: 102001654
20 DYNC1H1 NM_001376.4(DYNC1H1): c.4515G> A (p.Ser1505=) single nucleotide variant Conflicting interpretations of pathogenicity rs186932188 GRCh37 Chromosome 14, 102467991: 102467991
21 DYNC1H1 NM_001376.4(DYNC1H1): c.5298G> T (p.Leu1766=) single nucleotide variant Conflicting interpretations of pathogenicity rs149395439 GRCh38 Chromosome 14, 102005101: 102005101
22 DYNC1H1 NM_001376.4(DYNC1H1): c.5298G> T (p.Leu1766=) single nucleotide variant Conflicting interpretations of pathogenicity rs149395439 GRCh37 Chromosome 14, 102471438: 102471438
23 DYNC1H1 NM_001376.4(DYNC1H1): c.5985C> T (p.Ala1995=) single nucleotide variant Benign/Likely benign rs140841480 GRCh37 Chromosome 14, 102476187: 102476187
24 DYNC1H1 NM_001376.4(DYNC1H1): c.5985C> T (p.Ala1995=) single nucleotide variant Benign/Likely benign rs140841480 GRCh38 Chromosome 14, 102009850: 102009850
25 DYNC1H1 NM_001376.4(DYNC1H1): c.7203A> C (p.Lys2401Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150888094 GRCh38 Chromosome 14, 102015293: 102015293
26 DYNC1H1 NM_001376.4(DYNC1H1): c.7203A> C (p.Lys2401Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150888094 GRCh37 Chromosome 14, 102481630: 102481630
27 DYNC1H1 NM_001376.4(DYNC1H1): c.7239G> T (p.Leu2413=) single nucleotide variant Benign/Likely benign rs138407720 GRCh38 Chromosome 14, 102015329: 102015329
28 DYNC1H1 NM_001376.4(DYNC1H1): c.7239G> T (p.Leu2413=) single nucleotide variant Benign/Likely benign rs138407720 GRCh37 Chromosome 14, 102481666: 102481666
29 DYNC1H1 NM_001376.4(DYNC1H1): c.7458G> T (p.Leu2486=) single nucleotide variant Conflicting interpretations of pathogenicity rs17541165 GRCh38 Chromosome 14, 102016071: 102016071
30 DYNC1H1 NM_001376.4(DYNC1H1): c.7458G> T (p.Leu2486=) single nucleotide variant Conflicting interpretations of pathogenicity rs17541165 GRCh37 Chromosome 14, 102482408: 102482408
31 DYNC1H1 NM_001376.4(DYNC1H1): c.7758C> T (p.Ala2586=) single nucleotide variant Conflicting interpretations of pathogenicity rs145487328 GRCh37 Chromosome 14, 102483246: 102483246
32 DYNC1H1 NM_001376.4(DYNC1H1): c.7758C> T (p.Ala2586=) single nucleotide variant Conflicting interpretations of pathogenicity rs145487328 GRCh38 Chromosome 14, 102016909: 102016909
33 DYNC1H1 NM_001376.4(DYNC1H1): c.8502A> G (p.Gln2834=) single nucleotide variant Conflicting interpretations of pathogenicity rs146220233 GRCh37 Chromosome 14, 102486388: 102486388
34 DYNC1H1 NM_001376.4(DYNC1H1): c.8502A> G (p.Gln2834=) single nucleotide variant Conflicting interpretations of pathogenicity rs146220233 GRCh38 Chromosome 14, 102020051: 102020051
35 DYNC1H1 NM_001376.4(DYNC1H1): c.9138G> T (p.Ser3046=) single nucleotide variant Conflicting interpretations of pathogenicity rs34338935 GRCh37 Chromosome 14, 102494045: 102494045
36 DYNC1H1 NM_001376.4(DYNC1H1): c.9138G> T (p.Ser3046=) single nucleotide variant Conflicting interpretations of pathogenicity rs34338935 GRCh38 Chromosome 14, 102027708: 102027708
37 DYNC1H1 NM_001376.4(DYNC1H1): c.11016G> A (p.Ser3672=) single nucleotide variant Conflicting interpretations of pathogenicity rs199679500 GRCh38 Chromosome 14, 102038567: 102038567
38 DYNC1H1 NM_001376.4(DYNC1H1): c.11016G> A (p.Ser3672=) single nucleotide variant Conflicting interpretations of pathogenicity rs199679500 GRCh37 Chromosome 14, 102504904: 102504904
39 DYNC1H1 NM_001376.4(DYNC1H1): c.11520A> G (p.Leu3840=) single nucleotide variant Uncertain significance rs369351359 GRCh37 Chromosome 14, 102505808: 102505808
40 DYNC1H1 NM_001376.4(DYNC1H1): c.11520A> G (p.Leu3840=) single nucleotide variant Uncertain significance rs369351359 GRCh38 Chromosome 14, 102039471: 102039471
41 DYNC1H1 NM_001376.4(DYNC1H1): c.11685C> T (p.Thr3895=) single nucleotide variant Benign rs17541519 GRCh37 Chromosome 14, 102506064: 102506064
42 DYNC1H1 NM_001376.4(DYNC1H1): c.11685C> T (p.Thr3895=) single nucleotide variant Benign rs17541519 GRCh38 Chromosome 14, 102039727: 102039727
43 DYNC1H1 NM_001376.4(DYNC1H1): c.13440C> T (p.Ser4480=) single nucleotide variant Conflicting interpretations of pathogenicity rs150286673 GRCh37 Chromosome 14, 102515844: 102515844
44 DYNC1H1 NM_001376.4(DYNC1H1): c.13440C> T (p.Ser4480=) single nucleotide variant Conflicting interpretations of pathogenicity rs150286673 GRCh38 Chromosome 14, 102049507: 102049507
45 DYNC1H1 NM_001376.4(DYNC1H1): c.7539G> C (p.Glu2513Asp) single nucleotide variant Uncertain significance rs376901405 GRCh38 Chromosome 14, 102016414: 102016414
46 DYNC1H1 NM_001376.4(DYNC1H1): c.7539G> C (p.Glu2513Asp) single nucleotide variant Uncertain significance rs376901405 GRCh37 Chromosome 14, 102482751: 102482751
47 DYNC1H1 NM_001376.4(DYNC1H1): c.738A> G (p.Gln246=) single nucleotide variant Benign/Likely benign rs117189734 GRCh37 Chromosome 14, 102446275: 102446275
48 DYNC1H1 NM_001376.4(DYNC1H1): c.738A> G (p.Gln246=) single nucleotide variant Benign/Likely benign rs117189734 GRCh38 Chromosome 14, 101979938: 101979938
49 DYNC1H1 NM_001376.4(DYNC1H1): c.1479A> G (p.Gln493=) single nucleotide variant Likely benign rs761306770 GRCh37 Chromosome 14, 102452041: 102452041
50 DYNC1H1 NM_001376.4(DYNC1H1): c.1479A> G (p.Gln493=) single nucleotide variant Likely benign rs761306770 GRCh38 Chromosome 14, 101985704: 101985704

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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