MCID: DNJ004
MIFTS: 15

Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

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

Aliases & Classifications for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

MalaCards integrated aliases for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2:

Name: Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 58
Dnajb2-Related Cmt2 58

Characteristics:

Orphanet epidemiological data:

58
dnajb2-related charcot-marie-tooth disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA443950

Summaries for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

MalaCards based summary : Dnajb2-Related Charcot-Marie-Tooth Disease Type 2, also known as dnajb2-related cmt2, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 is DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2).

Related Diseases for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

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 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 9.6 MME DNAJB2
2 charcot-marie-tooth disease, axonal, type 2t 9.6 MME DNAJB2
3 charcot-marie-tooth disease, axonal, type 2e 9.5 MME DNAJB2

Symptoms & Phenotypes for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Drugs & Therapeutics for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Search Clinical Trials , NIH Clinical Center for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Genetic Tests for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Anatomical Context for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Publications for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Articles related to Dnajb2-Related Charcot-Marie-Tooth Disease Type 2:

# Title Authors PMID Year
1
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. 6
27588448 2016
2
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
3
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. 6
26991897 2016

Variations for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

ClinVar genetic disease variations for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJB2 NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) SNV Pathogenic 209147 rs797045039 GRCh37: 2:220146774-220146774
GRCh38: 2:219282052-219282052
2 MME NM_000902.4(MME):c.1861T>C (p.Cys621Arg) SNV Pathogenic 242839 rs879253752 GRCh37: 3:154886361-154886361
GRCh38: 3:155168572-155168572
3 MME NM_000902.4(MME):c.654+1G>A SNV Pathogenic 242837 rs1057519023 GRCh37: 3:154834776-154834776
GRCh38: 3:155116987-155116987
4 MME NM_000902.4(MME):c.439+2T>A SNV Pathogenic 242840 rs1057519024 GRCh37: 3:154834350-154834350
GRCh38: 3:155116561-155116561
5 MME NM_000902.4(MME):c.661C>T (p.Gln221Ter) SNV Pathogenic 242838 rs879253751 GRCh37: 3:154836541-154836541
GRCh38: 3:155118752-155118752
6 MME NM_000902.4(MME):c.1564C>T (p.Gln522Ter) SNV Pathogenic 432777 rs1553765316 GRCh37: 3:154866405-154866405
GRCh38: 3:155148616-155148616
7 MME NM_007289.3(MME):c.655-2A>G SNV Pathogenic 242841 rs765591205 GRCh37: 3:154836533-154836533
GRCh38: 3:155118744-155118744
8 MME NM_007289.3(MME):c.1579C>T (p.Arg527Ter) SNV Pathogenic 624034 rs781376762 GRCh37: 3:154866420-154866420
GRCh38: 3:155148631-155148631
9 MME NM_007289.4(MME):c.160+1del Deletion Pathogenic 1033202 GRCh37: 3:154802116-154802116
GRCh38: 3:155084327-155084327
10 MME NM_000902.4(MME):c.467del (p.Pro156fs) Deletion risk factor 426945 rs749320057 GRCh37: 3:154834479-154834479
GRCh38: 3:155116690-155116690
11 MME NM_007289.4(MME):c.202C>T (p.Arg68Ter) SNV Likely pathogenic 851617 GRCh37: 3:154832788-154832788
GRCh38: 3:155114999-155114999
12 MME NM_007287.3(MME):c.1666C>T (p.Pro556Ser) SNV Likely pathogenic 617584 rs1559961997 GRCh37: 3:154884696-154884696
GRCh38: 3:155166907-155166907
13 MME NM_007287.3(MME):c.1972G>A (p.Ala658Thr) SNV Likely pathogenic 617585 rs1559963660 GRCh37: 3:154886578-154886578
GRCh38: 3:155168789-155168789
14 MME NM_000902.4(MME):c.71G>A (p.Trp24Ter) SNV risk factor 265743 rs886039755 GRCh37: 3:154802027-154802027
GRCh38: 3:155084238-155084238
15 MME NM_000902.4(MME):c.1265C>A (p.Ala422Asp) SNV risk factor 265744 rs777476150 GRCh37: 3:154861308-154861308
GRCh38: 3:155143519-155143519
16 MME NM_000902.4(MME):c.1272del (p.Arg425fs) Deletion Uncertain significance 403669 rs1060499935 GRCh37: 3:154861312-154861312
GRCh38: 3:155143523-155143523
17 MME NM_000902.4(MME):c.1904G>A (p.Gly635Asp) SNV Uncertain significance 403670 rs151302020 GRCh37: 3:154886404-154886404
GRCh38: 3:155168615-155168615
18 MME NM_007289.4(MME):c.2072C>T (p.Ala691Val) SNV Uncertain significance 812145 rs1414684441 GRCh37: 3:154889997-154889997
GRCh38: 3:155172208-155172208
19 MME NM_007289.4(MME):c.1574A>C (p.Lys525Thr) SNV Uncertain significance 972705 GRCh37: 3:154866415-154866415
GRCh38: 3:155148626-155148626
20 MME NM_007289.4(MME):c.307C>T (p.Arg103Cys) SNV Uncertain significance 982975 GRCh37: 3:154832893-154832893
GRCh38: 3:155115104-155115104

Expression for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Search GEO for disease gene expression data for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2.

Pathways for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

GO Terms for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

Sources for Dnajb2-Related Charcot-Marie-Tooth Disease Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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