MCID: DNM002
MIFTS: 10

Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Categories: Mental diseases, Ear diseases, Neuronal diseases

Aliases & Classifications for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

MalaCards integrated aliases for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy:

Name: Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 23
Hereditary Sensoryautonomic Neuropathy Type 1 with Dementiahearing Loss 23
Hereditary Sensory and Autonomic Neuropathy Type Ie 69
Hereditary Sensory Neuropathy Type Ie 23
Hsnie 23

Characteristics:

GeneReviews:

23
Penetrance Penetrance is high in the few reported families...

Classifications:



External Ids:

UMLS 69 C3279885

Summaries for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

MalaCards based summary : Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy, also known as hereditary sensoryautonomic neuropathy type 1 with dementiahearing loss, is related to hereditary sensory and autonomic neuropathy type 1e and neuropathy, hereditary sensory, type ie. An important gene associated with Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy is DNMT1 (DNA Methyltransferase 1).

GeneReviews: NBK84112

Related Diseases for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Diseases related to Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary sensory and autonomic neuropathy type 1e 11.7
2 neuropathy, hereditary sensory, type ie 11.4
3 branchiootic syndrome 1 10.2
4 dementia 10.2
5 neuropathy 10.2

Graphical network of the top 20 diseases related to Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy:



Diseases related to Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Symptoms & Phenotypes for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Drugs & Therapeutics for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Search Clinical Trials , NIH Clinical Center for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Genetic Tests for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Anatomical Context for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Publications for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Articles related to Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy:

# Title Authors Year
1
DNMT1-Related Dementia, Deafness, and Sensory Neuropathy ( 22338191 )
1993

Variations for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

ClinVar genetic disease variations for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNMT1 NM_001130823.2(DNMT1): c.1532A> G (p.Tyr511Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473690 GRCh37 Chromosome 19, 10265693: 10265693
2 DNMT1 NM_001130823.2(DNMT1): c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) indel Pathogenic rs199473691 GRCh37 Chromosome 19, 10265705: 10265707
3 DNMT1 NM_001130823.2(DNMT1): c.1531T> C (p.Tyr511His) single nucleotide variant Pathogenic rs199473692 GRCh37 Chromosome 19, 10265694: 10265694

Expression for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Search GEO for disease gene expression data for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy.

Pathways for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

GO Terms for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Sources for Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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