MCID: DFN355
MIFTS: 17

Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1

Categories: Genetic diseases, Ear 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 57 29 6 73
Dfna39/dentinogenesis Imperfecta 1 Syndrome 57 75
Dfna39/dgi1 Syndrome 57 75
Dgi1/dfna39 Syndrome 57 75
Deafness, Autosomal Dominant, 39, with Dentinogenesis Imperfecta 1 75
Deafness, Autosomal Dominant, Type 39, with Dentinogenesis 40
Deafness, Autosomal Dominant 39, with Dentinogenesis 57
Dfna39/dgi1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
progressive high-frequency hearing loss (onset 20-30 years)
tinnitus

Head And Neck Teeth:
dentinogenesis imperfecta


Clinical features from OMIM:

605594

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

32
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 32 HP:0000703
2 tinnitus 32 HP:0000360
3 bilateral sensorineural hearing impairment 32 HP:0008619
4 high-frequency hearing impairment 32 HP:0005101

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 29 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:

75
# 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

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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