MCID: DFN108
MIFTS: 26

Deafness, Autosomal Recessive 77

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

Aliases & Classifications for Deafness, Autosomal Recessive 77

MalaCards integrated aliases for Deafness, Autosomal Recessive 77:

Name: Deafness, Autosomal Recessive 77 53 28 13 69
Dfnb77 53 12 71
Autosomal Recessive Nonsyndromic Deafness 77 12 14
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 71
Deafness, Autosomal Recessive, 77 71
Autosomal Recessive Deafness 77 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families
onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family


HPO:

31
deafness, autosomal recessive 77:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613079
Disease Ontology 12 DOID:0110525
ICD10 32 H90.3
MedGen 39 C2746083
MeSH 41 D003638
SNOMED-CT via HPO 65 258211005 194424005
UMLS 69 C2746083

Summaries for Deafness, Autosomal Recessive 77

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 77: A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.

MalaCards based summary : Deafness, Autosomal Recessive 77, also known as dfnb77, is related to non-syndromic genetic deafness and autosomal recessive nonsyndromic deafness 3, and has symptoms including bilateral sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 77 is LOXHD1 (Lipoxygenase Homology Domains 1). Related phenotype is hearing/vestibular/ear.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has material basis in mutation in the LOXHD1 gene on chromosome 18q21.

Description from OMIM: 613079

Related Diseases for Deafness, Autosomal Recessive 77

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Recessive 77 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 non-syndromic genetic deafness 9.7 LOXHD1 PJVK
2 autosomal recessive nonsyndromic deafness 3 9.5 MYO3A PJVK
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 LOXHD1 MYO3A PJVK
4 nonsyndromic deafness 9.3 LOXHD1 MYO3A PJVK

Symptoms & Phenotypes for Deafness, Autosomal Recessive 77

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, bilateral (milder hearing loss at low frequencies)


Clinical features from OMIM:

613079

Human phenotypes related to Deafness, Autosomal Recessive 77:

31
# Description HPO Frequency HPO Source Accession
1 bilateral sensorineural hearing impairment 31 HP:0008619

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 77:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 MYO3A PJVK PLAT

Drugs & Therapeutics for Deafness, Autosomal Recessive 77

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 77

Genetic Tests for Deafness, Autosomal Recessive 77

Genetic tests related to Deafness, Autosomal Recessive 77:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 77 28 LOXHD1

Anatomical Context for Deafness, Autosomal Recessive 77

Publications for Deafness, Autosomal Recessive 77

Variations for Deafness, Autosomal Recessive 77

ClinVar genetic disease variations for Deafness, Autosomal Recessive 77:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LOXHD1 NM_144612.6(LOXHD1): c.4714C> T (p.Arg1572Ter) single nucleotide variant Pathogenic rs75949023 GRCh37 Chromosome 18, 44104697: 44104697
2 LOXHD1 NM_144612.6(LOXHD1): c.4480C> T (p.Arg1494Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201587138 GRCh37 Chromosome 18, 44109190: 44109190
3 LOXHD1 NM_144612.6(LOXHD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121918370 GRCh37 Chromosome 18, 44152088: 44152088
4 LOXHD1 NM_144612.6(LOXHD1): c.5894dupG (p.Gly1966Argfs) duplication Pathogenic rs878853231 GRCh38 Chromosome 18, 46485121: 46485121
5 LOXHD1 NM_144612.6(LOXHD1): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs886043441 GRCh37 Chromosome 18, 44181420: 44181420
6 LOXHD1 NM_144612.6(LOXHD1): c.4376-2A> G single nucleotide variant Pathogenic rs886043616 GRCh37 Chromosome 18, 44109296: 44109296
7 LOXHD1 NM_144612.6(LOXHD1): c.442A> T (p.Lys148Ter) single nucleotide variant Pathogenic rs886044666 GRCh37 Chromosome 18, 44219648: 44219648
8 LOXHD1 NM_144612.6(LOXHD1): c.4843G> A (p.Gly1615Arg) single nucleotide variant Pathogenic rs768835732 GRCh38 Chromosome 18, 46524499: 46524499

Expression for Deafness, Autosomal Recessive 77

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 77.

Pathways for Deafness, Autosomal Recessive 77

GO Terms for Deafness, Autosomal Recessive 77

Cellular components related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 LOXHD1 MYO3A

Biological processes related to Deafness, Autosomal Recessive 77 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 LOXHD1 MYO3A PJVK

Sources for Deafness, Autosomal Recessive 77

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....