MCID: ATS165
MIFTS: 20

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

MalaCards integrated aliases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g:

Name: Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 58
Charcot-Marie-Tooth Disease, Axonal, Type 2g 71
Cmt2g 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2g
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1837805
Orphanet 58 ORPHA99941
UMLS 71 C1837805

Summaries for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

MalaCards based summary : Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g, also known as charcot-marie-tooth disease, axonal, type 2g, is related to charcot-marie-tooth disease, axonal, type 2p and charcot-marie-tooth disease. An important gene associated with Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g is LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1).

Related Diseases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2p 11.2
2 charcot-marie-tooth disease 11.0
3 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 9.9
4 tooth disease 9.9

Symptoms & Phenotypes for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Drugs & Therapeutics for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Genetic Tests for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Anatomical Context for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Publications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Articles related to Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g:

# Title Authors PMID Year
1
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. 6 61
27686364 2016
2
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. 6 61
14985381 2004
3
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. 6
22781092 2013
4
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. 6
22012984 2012
5
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 6
20865121 2010
6
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. 6
3022865 1986
7
Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease. 61
29674285 2018
8
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004

Variations for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

ClinVar genetic disease variations for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g:

6 (show top 50) (show all 292)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRSAM1 NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) SNV Pathogenic 30859 rs387907032 9:130263290-130263290 9:127501011-127501011
2 LRSAM1 NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) SNV Pathogenic 241836 rs138226428 9:130249974-130249974 9:127487695-127487695
3 LRSAM1 NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) SNV Pathogenic 268046 rs886041051 9:130265087-130265087 9:127502808-127502808
4 LRSAM1 NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) SNV Pathogenic 408267 rs759312530 9:130265086-130265086 9:127502807-127502807
5 LRSAM1 NM_138361.5(LRSAM1):c.2093_2104del Deletion Pathogenic 472799 rs1554763017 9:130265089-130265100 9:127502810-127502821
6 LRSAM1 NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) SNV Pathogenic 540003 rs1345228128 9:130236096-130236096 9:127473817-127473817
7 LRSAM1 NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) Deletion Pathogenic 577820 rs749012928 9:130257693-130257693 9:127495414-127495414
8 LRSAM1 NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) Duplication Pathogenic 585203 rs1564287871 9:130265104-130265105 9:127502825-127502826
9 LRSAM1 NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) Duplication Pathogenic 639489 rs775965001 9:130263327-130263328 9:127501048-127501049
10 LRSAM1 NC_000009.12:g.(?_127501000)_(127501153_?)del Deletion Pathogenic 644828 9:130263279-130263432 9:127501000-127501153
11 LRSAM1 NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del Microsatellite Pathogenic 645695 rs1588132672 9:130253562-130253563 9:127491283-127491284
12 LRSAM1 NM_138361.5(LRSAM1):c.1333del (p.Gln445fs) Deletion Pathogenic 946022 9:130250027-130250027 9:127487748-127487748
13 LRSAM1 NM_138361.5(LRSAM1):c.109del (p.Ser37fs) Deletion Pathogenic 969216 9:130217313-130217313 9:127455034-127455034
14 LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) Duplication Pathogenic 30860 rs786200930 9:130265125-130265126 9:127502846-127502847
15 LRSAM1 NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) Duplication Pathogenic 651567 rs1315010600 9:130263394-130263395 9:127501115-127501116
16 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>A SNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009
17 LRSAM1 NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) Deletion Pathogenic 859441 9:130258359-130258359 9:127496080-127496080
18 LRSAM1 NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) SNV Likely pathogenic 695013 rs1588143112 9:130263381-130263381 9:127501102-127501102
19 LRSAM1 NM_138361.5(LRSAM1):c.1043+1G>A SNV Likely pathogenic 953272 9:130242258-130242258 9:127479979-127479979
20 LRSAM1 NM_138361.5(LRSAM1):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 931649 9:130245242-130245242 9:127482963-127482963
21 LRSAM1 NC_000009.12:g.(?_127502764)_(127502909_?)del Deletion Likely pathogenic 831957 9:130265043-130265188
22 LRSAM1 NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs) Duplication Likely pathogenic 841754 9:130263352-130263353 9:127501073-127501074
23 LRSAM1 NM_138361.5(LRSAM1):c.847_1088+563del Deletion Likely pathogenic 650288 9:130241728-130244069 9:127479449-127481790
24 LRSAM1 NC_000009.11:g.(130264298_130265053)_(130265271_?)del Deletion Likely pathogenic 598943 9:130264298-130265271 9:127502019-127502992
25 LRSAM1 NM_138361.5(LRSAM1):c.1043+2T>G SNV Likely pathogenic 577857 rs746455518 9:130242259-130242259 9:127479980-127479980
26 LRSAM1 NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) Deletion Likely pathogenic 234769 rs876661208 9:130263377-130263389 9:127501098-127501110
27 LRSAM1 NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) SNV Likely pathogenic 242907 rs879253755 9:130265074-130265074 9:127502795-127502795
28 LRSAM1 NM_138361.5(LRSAM1):c.1348-1G>A SNV Likely pathogenic 472790 rs747659617 9:130251722-130251722 9:127489443-127489443
29 LRSAM1 NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) Deletion Likely pathogenic 540008 rs1554763035 9:130265108-130265108 9:127502829-127502829
30 LRSAM1 NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) SNV Conflicting interpretations of pathogenicity 241838 rs201284198 9:130263306-130263306 9:127501027-127501027
31 LRSAM1 NM_138361.5(LRSAM1):c.1504-5C>G SNV Conflicting interpretations of pathogenicity 365029 rs377190920 9:130255076-130255076 9:127492797-127492797
32 LRSAM1 NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) SNV Conflicting interpretations of pathogenicity 365031 rs139344911 9:130258316-130258316 9:127496037-127496037
33 LRSAM1 NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) SNV Conflicting interpretations of pathogenicity 414879 rs771491533 9:130241775-130241775 9:127479496-127479496
34 LRSAM1 NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) SNV Conflicting interpretations of pathogenicity 578496 rs373570877 9:130245293-130245293 9:127483014-127483014
35 LRSAM1 NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) SNV Conflicting interpretations of pathogenicity 701162 rs140066362 9:130255092-130255092 9:127492813-127492813
36 LRSAM1 NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) SNV Conflicting interpretations of pathogenicity 365012 rs368689811 9:130224582-130224582 9:127462303-127462303
37 LRSAM1 NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) SNV Conflicting interpretations of pathogenicity 408269 rs150784835 9:130217298-130217298 9:127455019-127455019
38 LRSAM1 NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) SNV Conflicting interpretations of pathogenicity 841226 9:130251726-130251726 9:127489447-127489447
39 LRSAM1 NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) SNV Conflicting interpretations of pathogenicity 208726 rs797044913 9:130265126-130265126 9:127502847-127502847
40 LRSAM1 NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) SNV Uncertain significance 288562 rs537838691 9:130258325-130258325 9:127496046-127496046
41 LRSAM1 NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) SNV Uncertain significance 845926 9:130258258-130258258 9:127495979-127495979
42 LRSAM1 NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) SNV Uncertain significance 639095 rs1588144651 9:130265093-130265093 9:127502814-127502814
43 LRSAM1 NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) SNV Uncertain significance 540007 rs772202137 9:130223522-130223522 9:127461243-127461243
44 LRSAM1 NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) SNV Uncertain significance 571041 rs746831085 9:130259538-130259538 9:127497259-127497259
45 LRSAM1 NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) SNV Uncertain significance 408270 rs746274685 9:130230094-130230094 9:127467815-127467815
46 LRSAM1 NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) SNV Uncertain significance 472793 rs1400819662 9:130257618-130257618 9:127495339-127495339
47 LRSAM1 NM_138361.5(LRSAM1):c.1773_1774delinsAA (p.His592Asn) Indel Uncertain significance 959968 9:130258317-130258318 9:127496038-127496039
48 LRSAM1 NM_138361.5(LRSAM1):c.1870C>T (p.Arg624Trp) SNV Uncertain significance 960769 9:130259571-130259571 9:127497292-127497292
49 LRSAM1 NM_138361.5(LRSAM1):c.21_41dup (p.Pro10_Lys16dup) Duplication Uncertain significance 961151 9:130216826-130216827 9:127454547-127454548
50 LRSAM1 NM_138361.5(LRSAM1):c.1541T>A (p.Leu514Gln) SNV Uncertain significance 961252 9:130255118-130255118 9:127492839-127492839

Expression for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Search GEO for disease gene expression data for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g.

Pathways for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

GO Terms for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Sources for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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45 MESH via Orphanet
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50 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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