DFNA39/DGI1
MCID: DFN355
MIFTS: 16

Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (DFNA39/DGI1)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

MalaCards integrated aliases for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1:

Name: Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 58 30 6 74
Dfna39/dentinogenesis Imperfecta 1 Syndrome 58 76
Dfna39/dgi1 Syndrome 58 76
Dgi1/dfna39 Syndrome 58 76
Deafness, Autosomal Dominant, 39, with Dentinogenesis Imperfecta 1 76
Deafness, Autosomal Dominant, Type 39, with Dentinogenesis 41
Deafness, Autosomal Dominant 39, with Dentinogenesis 58
Dfna39/dgi1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic with dentinogenesis imperfecta 1 and dentin dysplasia, type ii


HPO:

33
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

UniProtKB/Swiss-Prot : 76 Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1: A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta.

MalaCards based summary : Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1, is also known as dfna39/dentinogenesis imperfecta 1 syndrome, and has symptoms including tinnitus An important gene associated with Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 is DSPP (Dentin Sialophosphoprotein). Related phenotypes are dentinogenesis imperfecta and tinnitus

Description from OMIM: 605594

Related Diseases for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Symptoms & Phenotypes for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Human phenotypes related to Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1:

33
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 33 HP:0000703
2 tinnitus 33 HP:0000360
3 bilateral sensorineural hearing impairment 33 HP:0008619
4 high-frequency hearing impairment 33 HP:0005101

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
dentinogenesis imperfecta

Head And Neck Ears:
tinnitus
progressive high-frequency hearing loss (onset 20-30 years)

Clinical features from OMIM:

605594

UMLS symptoms related to Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1:


tinnitus

Drugs & Therapeutics for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1

Genetic Tests for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Genetic tests related to Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 30 DSPP

Anatomical Context for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Publications for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Variations for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1:

76
# Symbol AA change Variation ID SNP ID
1 DSPP p.Pro17Thr VAR_012280 rs121912986
2 DSPP p.Val18Phe VAR_012281 rs121912987

ClinVar genetic disease variations for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSPP NM_014208.3(DSPP): c.3681C> A (p.Asp1227Glu) single nucleotide variant Uncertain significance rs959216315 GRCh37 Chromosome 4, 88537495: 88537495
2 DSPP NM_014208.3(DSPP): c.3681C> A (p.Asp1227Glu) single nucleotide variant Uncertain significance rs959216315 GRCh38 Chromosome 4, 87616343: 87616343
3 DSPP NM_014208.3(DSPP): c.3248_3249insC (p.Glu1083Aspfs) insertion Likely pathogenic GRCh38 Chromosome 4, 87615910: 87615911
4 DSPP NM_014208.3(DSPP): c.3248_3249insC (p.Glu1083Aspfs) insertion Likely pathogenic GRCh37 Chromosome 4, 88537062: 88537063

Expression for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1.

Pathways for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

GO Terms for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

Sources for Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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