DFNB88
MCID: DFN243
MIFTS: 24

Deafness, Autosomal Recessive 88 (DFNB88)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 88

MalaCards integrated aliases for Deafness, Autosomal Recessive 88:

Name: Deafness, Autosomal Recessive 88 57 29 6 70
Dfnb88 57 12 72
Autosomal Recessive Nonsyndromic Deafness 88 12 15
Hearing Loss, Mixed Conductive-Sensorineural 44
Deafness, Autosomal Recessive, Type 88 39
Deafness, Autosomal Recessive, 88 72
Autosomal Recessive Deafness 88 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset
one pakistani family has been reported (last curated september 2013)


HPO:

31
deafness, autosomal recessive 88:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110533
OMIM® 57 615429
OMIM Phenotypic Series 57 PS220290
MeSH 44 D046089
UMLS 70 C2829267

Summaries for Deafness, Autosomal Recessive 88

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 88: A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss.

MalaCards based summary : Deafness, Autosomal Recessive 88, is also known as dfnb88. An important gene associated with Deafness, Autosomal Recessive 88 is ELMOD3 (ELMO Domain Containing 3). The drug Silver sulfadiazine has been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the ELMOD3 gene on chromosome 2p11.

More information from OMIM: 615429 PS220290

Related Diseases for Deafness, Autosomal Recessive 88

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Symptoms & Phenotypes for Deafness, Autosomal Recessive 88

Human phenotypes related to Deafness, Autosomal Recessive 88:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural and conductive, severe to profound

Clinical features from OMIM®:

615429 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Recessive 88

Drugs for Deafness, Autosomal Recessive 88 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved 22199-08-2 441244

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 Clinical Trial on Objective Measures in Implantable Hearing Devices for Subjects With Mixed Hearing Loss. Unknown status NCT01780025
3 Middle Ear Implant With MET V for Mixed Hearing Loss Unknown status NCT01529333
4 C49:Clinical Survey of Different Abutment Topologies Installed With a Minimally Invasive Surgery for Bone Anchored Hearing Systems Completed NCT02304692
5 Ambispective Clinical Evaluation of Sophono™ Completed NCT03143257
6 Investigating Hearing With the Ponto 4, a Bone Anchored Hearing Aid Completed NCT04761926
7 C51 - Clinical Survey of Oticon Medical Healing Cap Completed NCT02274129
8 Evaluation of Audiological Outcomes and Subjective Benefits of Cochlear Baha® 5 SuperPower Sound Processor on the Baha® Attract™ System Completed NCT02722330
9 Clinical and Health Economic Evaluation of a New Baha® Abutment, With a Minimally Invasive Surgical Technique. An International Multicentre, Open, Randomised, Comparative, Parallel Group, Investigation. 1y Investigation, 2y Follow-up Completed NCT01796236
10 Clinical Performance of a New Implant System for Bone Conduction Hearing Completed NCT03086135
11 Subject´s Preference Regarding Hearing Performance and Functionality Using a New Sound Processor Completed NCT03848910
12 Clinical Survey of Oticon Medical Ponto Implants and a Surgical Technique With Tissue Preservation Completed NCT02064478
13 Clinical Survey of Minimally Invasive Ponto Surgical Technique (MIPS) Completed NCT03281967
14 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Completed NCT02019888
15 Early Experience of a New Implant System for Bone Conduction Hearing in the Pediatric Population Completed NCT03509974
16 Single Center Evaluation of a Sound Processor for a Transcutaneous System Completed NCT03374787
17 Evaluation of the Baha SoundArc in Pediatric Patients Completed NCT03333577
18 Clinical Validation of the Nucleus® CP810 Sound Processor for the Codacs™ System Completed NCT02156167
19 Outcomes in Adults With Mixed or Conductive Hearing Loss Implanted With the BONEBRIDGE Recruiting NCT03859648
20 The BCI 602 BONEBRIDGE Post-Market Clinical Follow-up Study Recruiting NCT04427033
21 A Post-market Interventional Cohort Study Evaluating the Clinical Efficacy of the Osia 2 System in the US Market. Recruiting NCT04320407
22 Clinical Study of Minimally Invasive Ponto Surgical Technique (MIPS) - Design Iteration Active, not recruiting NCT03807713

Search NIH Clinical Center for Deafness, Autosomal Recessive 88

Cochrane evidence based reviews: hearing loss, mixed conductive-sensorineural

Genetic Tests for Deafness, Autosomal Recessive 88

Genetic tests related to Deafness, Autosomal Recessive 88:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 88 29 ELMOD3

Anatomical Context for Deafness, Autosomal Recessive 88

MalaCards organs/tissues related to Deafness, Autosomal Recessive 88:

40
Bone

Publications for Deafness, Autosomal Recessive 88

Articles related to Deafness, Autosomal Recessive 88:

# Title Authors PMID Year
1
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. 6 57 61
24039609 2013

Variations for Deafness, Autosomal Recessive 88

ClinVar genetic disease variations for Deafness, Autosomal Recessive 88:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELMOD3 NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser) SNV Pathogenic 65464 rs587777040 GRCh37: 2:85616929-85616929
GRCh38: 2:85389806-85389806

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 88:

72
# Symbol AA change Variation ID SNP ID
1 ELMOD3 p.Leu265Ser VAR_070125 rs587777040

Expression for Deafness, Autosomal Recessive 88

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 88.

Pathways for Deafness, Autosomal Recessive 88

GO Terms for Deafness, Autosomal Recessive 88

Sources for Deafness, Autosomal Recessive 88

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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