MCID: DNM005
MIFTS: 8

Dnmt1-Related Disorder

Aliases & Classifications for Dnmt1-Related Disorder

MalaCards integrated aliases for Dnmt1-Related Disorder:

Name: Dnmt1-Related Disorder 25 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance of dnmt1 disorder is 100% in both males and females. however, age of onset and rate of progression vary between individuals.

Summaries for Dnmt1-Related Disorder

MalaCards based summary : Dnmt1-Related Disorder is related to ataxia and polyneuropathy, adult-onset and branchiootic syndrome 1. An important gene associated with Dnmt1-Related Disorder is DNMT1 (DNA Methyltransferase 1).

GeneReviews: NBK84112

Related Diseases for Dnmt1-Related Disorder

Diseases related to Dnmt1-Related Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 9.9
2 branchiootic syndrome 1 9.9
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
4 hereditary sensory neuropathy 9.9
5 sensorineural hearing loss 9.9
6 autonomic neuropathy 9.9
7 autosomal dominant cerebellar ataxia 9.9
8 narcolepsy 9.9

Graphical network of the top 20 diseases related to Dnmt1-Related Disorder:



Diseases related to Dnmt1-Related Disorder

Symptoms & Phenotypes for Dnmt1-Related Disorder

Drugs & Therapeutics for Dnmt1-Related Disorder

Search Clinical Trials , NIH Clinical Center for Dnmt1-Related Disorder

Genetic Tests for Dnmt1-Related Disorder

Anatomical Context for Dnmt1-Related Disorder

Publications for Dnmt1-Related Disorder

Articles related to Dnmt1-Related Disorder:

# Title Authors PMID Year
1
Timing, rates and spectra of human germline mutation. 25
26656846 2016
2
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. 25
25678562 2015
3
Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. 25
25033457 2014
4
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. 25
22328086 2012
5
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 25
21532572 2011
6
Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. 25
10210919 1999
7
Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. 25
7898717 1995
8
DNMT1-Related Disorder 61
22338191 2012

Variations for Dnmt1-Related Disorder

ClinVar genetic disease variations for Dnmt1-Related Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNMT1 NM_001130823.3(DNMT1):c.2791G>A (p.Glu931Lys) SNV not provided 440984 rs767511749 GRCh37: 19:10257130-10257130
GRCh38: 19:10146454-10146454

Expression for Dnmt1-Related Disorder

Search GEO for disease gene expression data for Dnmt1-Related Disorder.

Pathways for Dnmt1-Related Disorder

GO Terms for Dnmt1-Related Disorder

Sources for Dnmt1-Related Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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