MCID: DNM002
MIFTS: 9

Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Mental 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 24
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:



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 neuropathy, hereditary sensory, type ie and hereditary sensory and autonomic neuropathy type 1e. 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:

id Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 11.3
2 hereditary sensory and autonomic neuropathy type 1e 11.3
3 dementia 10.1
4 neuropathy 10.1

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

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

id Genetic test Affiliating Genes
1 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 24 DNMT1

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:

id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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