DFNB99
MCID: DFN378
MIFTS: 21

Deafness, Autosomal Recessive 99 (DFNB99)

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

Aliases & Classifications for Deafness, Autosomal Recessive 99

MalaCards integrated aliases for Deafness, Autosomal Recessive 99:

Name: Deafness, Autosomal Recessive 99 57 29 6
Dfnb99 57 12 72
Autosomal Recessive Nonsyndromic Deafness 99 12 15
Deafness, Autosomal Recessive, 99 72
Autosomal Recessive Deafness 99 12

Characteristics:

OMIM®:

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

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 99:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111634
OMIM® 57 618481
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
SNOMED-CT via HPO 68 258211005 60700002

Summaries for Deafness, Autosomal Recessive 99

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 99: A form of non-syndromic deafness characterized by prelingual, bilateral, severe-to-profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 99, also known as dfnb99, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 99 is TMEM132E (Transmembrane Protein 132E). Related phenotype is sensorineural hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has material basis in homozygous or compound heterozygous mutation in TMEM132E on chromosome 17q12.

OMIM® : 57 DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction (Cheng et al., 2003). (618481) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Recessive 99

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

Diseases related to Deafness, Autosomal Recessive 99 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
2 nonsyndromic hearing loss 9.9

Symptoms & Phenotypes for Deafness, Autosomal Recessive 99

Human phenotypes related to Deafness, Autosomal Recessive 99:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

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

Clinical features from OMIM®:

618481 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Recessive 99

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 99

Genetic Tests for Deafness, Autosomal Recessive 99

Genetic tests related to Deafness, Autosomal Recessive 99:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 99 29 TMEM132E

Anatomical Context for Deafness, Autosomal Recessive 99

Publications for Deafness, Autosomal Recessive 99

Articles related to Deafness, Autosomal Recessive 99:

# Title Authors PMID Year
1
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. 6 57 61
31656313 2020
2
Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. 61 57 6
25331638 2015
3
[Gene mapping of a nonsyndromic hearing impairmint family]. 57 6
12673573 2003

Variations for Deafness, Autosomal Recessive 99

ClinVar genetic disease variations for Deafness, Autosomal Recessive 99:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM132E NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln) SNV Pathogenic 143842 rs139895222 GRCh37: 17:32959769-32959769
GRCh38: 17:34632750-34632750
2 TMEM132E NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser) SNV Pathogenic 977484 GRCh37: 17:32953460-32953460
GRCh38: 17:34626441-34626441
3 TMEM132E NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu) SNV Pathogenic 977485 GRCh37: 17:32964500-32964500
GRCh38: 17:34637481-34637481
4 TMEM132E NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val) SNV Uncertain significance 1030371 GRCh37: 17:32956113-32956113
GRCh38: 17:34629094-34629094
5 TMEM132E NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met) SNV Uncertain significance 1030372 GRCh37: 17:32964756-32964756
GRCh38: 17:34637737-34637737

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 99:

72
# Symbol AA change Variation ID SNP ID
1 TMEM132E p.Arg510Gln VAR_073717 rs139895222

Expression for Deafness, Autosomal Recessive 99

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 99.

Pathways for Deafness, Autosomal Recessive 99

GO Terms for Deafness, Autosomal Recessive 99

Sources for Deafness, Autosomal Recessive 99

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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