DFNA39/DGI1
MCID: DFN355
MIFTS: 18

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 57 29 6 70
Dfna39/dentinogenesis Imperfecta 1 Syndrome 57 72
Dfna39/dgi1 Syndrome 57 72
Dgi1/dfna39 Syndrome 57 72
Deafness, Autosomal Dominant, 39, with Dentinogenesis Imperfecta 1 72
Deafness, Autosomal Dominant, Type 39, with Dentinogenesis 39
Deafness, Autosomal Dominant 39, with Dentinogenesis 57
Dfna39/dgi1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 605594
MedGen 41 C1854146
UMLS 70 C1854146

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

UniProtKB/Swiss-Prot : 72 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

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 31 HP:0000703
2 tinnitus 31 HP:0000360
3 bilateral sensorineural hearing impairment 31 HP:0008619
4 high-frequency hearing impairment 31 HP:0005101

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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...

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

# Title Authors PMID Year
1
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 57
11175790 2001

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSPP NM_014208.3(DSPP):c.3742_3743insTAGTAGTG (p.Asn1248fs) Insertion Pathogenic 997545 GRCh37: 4:88537556-88537557
GRCh38: 4:87616404-87616405
2 DSPP NM_014208.3(DSPP):c.3262del (p.Ser1088fs) Deletion Pathogenic 1029257 GRCh37: 4:88537076-88537076
GRCh38: 4:87615924-87615924
3 DSPP NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs) Insertion Likely pathogenic 627439 rs1553904404 GRCh37: 4:88537062-88537063
GRCh38: 4:87615910-87615911
4 DSPP NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs) Indel Likely pathogenic 834048 GRCh37: 4:88533706-88533709
GRCh38: 4:87612554-87612557
5 DSPP NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) Indel Uncertain significance 982865 GRCh37: 4:88537349-88537351
GRCh38: 4:87616197-87616199
6 DSPP NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) SNV Uncertain significance 260354 rs61731011 GRCh37: 4:88534398-88534398
GRCh38: 4:87613246-87613246
7 DSPP NM_014208.3(DSPP):c.1847G>A (p.Ser616Asn) SNV Uncertain significance 1031808 GRCh37: 4:88535661-88535661
GRCh38: 4:87614509-87614509
8 DSPP NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn) SNV Likely benign 689607 rs767387863 GRCh37: 4:88534369-88534369
GRCh38: 4:87613217-87613217
9 DSPP NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) SNV Benign 523082 rs959216315 GRCh37: 4:88537495-88537495
GRCh38: 4:87616343-87616343

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

72
# Symbol AA change Variation ID SNP ID
1 DSPP p.Pro17Thr VAR_012280 rs121912986
2 DSPP p.Val18Phe VAR_012281 rs121912987

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
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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