DFNB67
MCID: DFN114
MIFTS: 35

Deafness, Autosomal Recessive 67 (DFNB67)

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

Aliases & Classifications for Deafness, Autosomal Recessive 67

MalaCards integrated aliases for Deafness, Autosomal Recessive 67:

Name: Deafness, Autosomal Recessive 67 57 29 13 6 70
Dfnb67 57 12 72
Autosomal Recessive Nonsyndromic Deafness 67 12 15
Deafness, Autosomal Recessive, Type 67 39
Deafness, Autosomal Recessive, 67 72
Autosomal Recessive Deafness 67 12

Characteristics:

OMIM®:

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

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110518
OMIM® 57 610265
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1853223
SNOMED-CT via HPO 68 194424005 258211005
UMLS 70 C1853223

Summaries for Deafness, Autosomal Recessive 67

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 67: A form of non-syndromic 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 67, also known as dfnb67, is related to deafness, autosomal recessive 66 and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 67 is LHFPL5 (LHFPL Tetraspan Subfamily Member 5). Related phenotypes are bilateral sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the LHFPL5 gene on chromosome 6p21.

More information from OMIM: 610265 PS220290

Related Diseases for Deafness, Autosomal Recessive 67

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 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 66 29.9 LHFPL5 LHFPL3
2 nonsyndromic hearing loss 29.5 TMIE PJVK PCDH15 LHFPL5
3 rare genetic deafness 29.1 TMIE PJVK PCDH15 LRTOMT CIB2
4 nonsyndromic deafness 10.2 PCDH15 LRTOMT
5 deafness, autosomal dominant 30 10.2 TMIE TMC2
6 deafness, autosomal recessive 16 10.2 TMIE LHFPL5
7 usher syndrome, type ik 10.1 PCDH15 CIB2
8 deafness, autosomal recessive 85 10.1 PJVK LHFPL5
9 usher syndrome, type ih 10.1 PCDH15 CIB2
10 deafness, autosomal recessive 2 10.1 PJVK PCDH15
11 usher syndrome, type ij 10.1 PCDH15 CIB2
12 deafness, autosomal recessive 27 10.1 TMIE PJVK
13 deafness, autosomal recessive 83 10.1 PJVK LHFPL5
14 deafness, autosomal recessive 77 10.1 PJVK LHFPL5
15 usher syndrome, type iid 10.1 PCDH15 CIB2
16 deafness, autosomal recessive 48 10.1 TMC2 CIB2
17 autosomal recessive nonsyndromic deafness 3 10.1 PJVK LRTOMT
18 y-linked deafness 10.0 TMIE TMC2 PCDH15
19 y-linked monogenic disease 10.0 TMIE TMC2 PCDH15
20 usher syndrome, type ic 10.0 TMIE TMC2 PCDH15
21 usher syndrome, type if 10.0 PCDH15 CIB2
22 deafness, autosomal recessive 28 10.0 TMIE CABP2
23 deafness, autosomal recessive 21 10.0 PJVK LRTOMT
24 deafness, autosomal recessive 22 10.0 TMIE PJVK LHFPL5
25 deafness, autosomal recessive 9 9.9 TMIE PJVK LRTOMT
26 deafness, autosomal recessive 53 9.9 PJVK LRTOMT LHFPL5
27 usher syndrome, type iic 9.9 PCDH15 CIB2
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 TMIE PJVK PCDH15
30 digenic disease 9.9 PCDH15 CIB2
31 deafness, autosomal dominant 36 9.8 TMIE TMC2 PCDH15 LHFPL5
32 usher syndrome, type id 9.8 TMIE PCDH15 LHFPL5 CIB2
33 charcot-marie-tooth disease x-linked recessive 4 9.8 PJVK CABP2
34 usher syndrome type 2 9.8 TMIE PCDH15 LHFPL5 CIB2
35 deafness, autosomal recessive 49 9.8 PJVK ILDR1
36 deafness, autosomal recessive 42 9.8 PJVK ILDR1
37 deafness, autosomal recessive 15 9.7 PJVK ILDR1
38 deafness, autosomal recessive 24 9.6 PJVK LRTOMT ILDR1
39 deafness, autosomal recessive 93 9.6 TMIE PJVK LRTOMT CABP2
40 deafness, autosomal recessive 35 9.6 TMIE PJVK LRTOMT CABP2
41 deafness, autosomal recessive 7 9.6 TMIE TMC2 PJVK LRTOMT LHFPL5
42 deafness, autosomal recessive 63 9.6 TMIE TMC2 PJVK LRTOMT LHFPL5
43 branchiootic syndrome 1 9.5 PJVK ILDR1
44 deafness, autosomal recessive 6 9.5 TMIE PJVK LRTOMT LHFPL5 CABP2
45 deafness, autosomal recessive 12 9.3 TMIE PJVK PCDH15 LRTOMT LHFPL5 CIB2
46 usher syndrome, type i 9.3 TMIE TMC2 PJVK PCDH15 LHFPL5 CIB2
47 autosomal recessive nonsyndromic deafness 9.2 TMIE TMC2 PCDH15 LRTOMT LHFPL5 ILDR1
48 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 PCDH15 LHFPL5 ILDR1 CIB2 CABP2
49 sensorineural hearing loss 9.2 TMIE PCDH15 LRTOMT LHFPL5 ILDR1 CIB2
50 usher syndrome 9.1 TMIE TMC2 PJVK PCDH15 LRTOMT LHFPL5

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 67:



Diseases related to Deafness, Autosomal Recessive 67

Symptoms & Phenotypes for Deafness, Autosomal Recessive 67

Human phenotypes related to Deafness, Autosomal Recessive 67:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, congenital, bilateral, severe to profound
no vestibular dysfunction

Clinical features from OMIM®:

610265 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 67:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CABP2 CIB2 ILDR1 LHFPL5 LRTOMT PCDH15
2 hearing/vestibular/ear MP:0005377 9.61 CABP2 CIB2 ILDR1 LHFPL5 LRTOMT PCDH15
3 nervous system MP:0003631 9.28 CABP2 CIB2 ILDR1 LHFPL5 LRTOMT PCDH15

Drugs & Therapeutics for Deafness, Autosomal Recessive 67

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 67

Genetic Tests for Deafness, Autosomal Recessive 67

Genetic tests related to Deafness, Autosomal Recessive 67:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 67 29 LHFPL5

Anatomical Context for Deafness, Autosomal Recessive 67

Publications for Deafness, Autosomal Recessive 67

Articles related to Deafness, Autosomal Recessive 67:

# Title Authors PMID Year
1
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. 61 6 57
16459341 2006
2
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 57 6 61
16752389 2006
3
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. 57
15905332 2005
4
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. 61
31126177 2019
5
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. 61
30177809 2018
6
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. 61
27260575 2016
7
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. 61
21816241 2011
8
Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation. 61
17876667 2007

Variations for Deafness, Autosomal Recessive 67

ClinVar genetic disease variations for Deafness, Autosomal Recessive 67:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LHFPL5 NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys) SNV Pathogenic 1695 rs104893975 GRCh37: 6:35773827-35773827
GRCh38: 6:35806050-35806050
2 LHFPL5 NM_182548.4(LHFPL5):c.649+1del Deletion Pathogenic 1696 rs1581972457 GRCh37: 6:35782559-35782559
GRCh38: 6:35814782-35814782
3 LHFPL5 NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met) SNV Pathogenic 1697 rs104893976 GRCh37: 6:35782404-35782404
GRCh38: 6:35814627-35814627
4 LHFPL5 NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) SNV Pathogenic 402282 rs1060499810 GRCh37: 6:35773448-35773448
GRCh38: 6:35805671-35805671
5 LHFPL5 NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro) SNV Pathogenic 375705 rs1554147220 GRCh37: 6:35782485-35782485
GRCh38: 6:35814708-35814708
6 LHFPL5 NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) Deletion Pathogenic 1694 rs779841884 GRCh37: 6:35773693-35773693
GRCh38: 6:35805916-35805916
7 LHFPL5 NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) SNV Pathogenic 562086 rs762876554 GRCh37: 6:35782362-35782362
GRCh38: 6:35814585-35814585
8 LHFPL5 NM_182548.4(LHFPL5):c.490C>T (p.Gln164Ter) SNV Pathogenic 1034413 GRCh37: 6:35782400-35782400
GRCh38: 6:35814623-35814623
9 LHFPL5 NM_182548.4(LHFPL5):c.-30G>C SNV Uncertain significance 356487 rs375993440 GRCh37: 6:35773418-35773418
GRCh38: 6:35805641-35805641
10 LHFPL5 NM_182548.4(LHFPL5):c.-128C>T SNV Uncertain significance 356484 rs146758343 GRCh37: 6:35773320-35773320
GRCh38: 6:35805543-35805543
11 LHFPL5 NM_182548.4(LHFPL5):c.*449C>T SNV Uncertain significance 356506 rs57339676 GRCh37: 6:35791191-35791191
GRCh38: 6:35823414-35823414
12 LHFPL5 NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) SNV Uncertain significance 356490 rs147162459 GRCh37: 6:35773813-35773813
GRCh38: 6:35806036-35806036
13 LHFPL5 NM_182548.4(LHFPL5):c.*459C>T SNV Uncertain significance 356509 rs886061352 GRCh37: 6:35791201-35791201
GRCh38: 6:35823424-35823424
14 LHFPL5 NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) SNV Uncertain significance 587422 rs760970028 GRCh37: 6:35773774-35773774
GRCh38: 6:35805997-35805997
15 LHFPL5 NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) SNV Uncertain significance 228800 rs149941106 GRCh37: 6:35773490-35773490
GRCh38: 6:35805713-35805713
16 LHFPL5 NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu) SNV Uncertain significance 904587 GRCh37: 6:35773529-35773529
GRCh38: 6:35805752-35805752
17 LHFPL5 NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) SNV Uncertain significance 727798 rs202178128 GRCh37: 6:35773782-35773782
GRCh38: 6:35806005-35806005
18 LHFPL5 NM_182548.4(LHFPL5):c.*461T>C SNV Uncertain significance 904653 GRCh37: 6:35791203-35791203
GRCh38: 6:35823426-35823426
19 LHFPL5 NM_182548.4(LHFPL5):c.*479T>C SNV Uncertain significance 904654 GRCh37: 6:35791221-35791221
GRCh38: 6:35823444-35823444
20 LHFPL5 NM_182548.4(LHFPL5):c.411G>T (p.Ala137=) SNV Uncertain significance 905375 GRCh37: 6:35773858-35773858
GRCh38: 6:35806081-35806081
21 LHFPL5 NM_182548.4(LHFPL5):c.527G>A (p.Arg176His) SNV Uncertain significance 905376 GRCh37: 6:35782437-35782437
GRCh38: 6:35814660-35814660
22 LHFPL5 NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly) SNV Uncertain significance 905377 GRCh37: 6:35787214-35787214
GRCh38: 6:35819437-35819437
23 LHFPL5 NM_182548.4(LHFPL5):c.*199A>G SNV Uncertain significance 905378 GRCh37: 6:35790941-35790941
GRCh38: 6:35823164-35823164
24 LHFPL5 NM_182548.4(LHFPL5):c.*487C>T SNV Uncertain significance 905444 GRCh37: 6:35791229-35791229
GRCh38: 6:35823452-35823452
25 LHFPL5 NM_182548.4(LHFPL5):c.*489C>T SNV Uncertain significance 905445 GRCh37: 6:35791231-35791231
GRCh38: 6:35823454-35823454
26 LHFPL5 NM_182548.4(LHFPL5):c.*501C>G SNV Uncertain significance 905446 GRCh37: 6:35791243-35791243
GRCh38: 6:35823466-35823466
27 LHFPL5 NM_182548.4(LHFPL5):c.*506A>T SNV Uncertain significance 905447 GRCh37: 6:35791248-35791248
GRCh38: 6:35823471-35823471
28 LHFPL5 NM_182548.4(LHFPL5):c.*508A>T SNV Uncertain significance 905448 GRCh37: 6:35791250-35791250
GRCh38: 6:35823473-35823473
29 LHFPL5 NM_182548.4(LHFPL5):c.*510A>T SNV Uncertain significance 905959 GRCh37: 6:35791252-35791252
GRCh38: 6:35823475-35823475
30 LHFPL5 NM_182548.4(LHFPL5):c.*516T>A SNV Uncertain significance 905960 GRCh37: 6:35791258-35791258
GRCh38: 6:35823481-35823481
31 LHFPL5 NM_182548.4(LHFPL5):c.*609G>A SNV Uncertain significance 905961 GRCh37: 6:35791351-35791351
GRCh38: 6:35823574-35823574
32 LHFPL5 NM_182548.4(LHFPL5):c.*241G>A SNV Uncertain significance 906983 GRCh37: 6:35790983-35790983
GRCh38: 6:35823206-35823206
33 LHFPL5 NM_182548.4(LHFPL5):c.*386A>T SNV Uncertain significance 906984 GRCh37: 6:35791128-35791128
GRCh38: 6:35823351-35823351
34 LHFPL5 NM_182548.4(LHFPL5):c.*417T>C SNV Uncertain significance 906985 GRCh37: 6:35791159-35791159
GRCh38: 6:35823382-35823382
35 LHFPL5 NM_182548.4(LHFPL5):c.*421T>C SNV Uncertain significance 906986 GRCh37: 6:35791163-35791163
GRCh38: 6:35823386-35823386
36 LHFPL5 NM_182548.4(LHFPL5):c.*425C>T SNV Uncertain significance 907960 GRCh37: 6:35791167-35791167
GRCh38: 6:35823390-35823390
37 LHFPL5 NM_182548.4(LHFPL5):c.*427C>T SNV Uncertain significance 907961 GRCh37: 6:35791169-35791169
GRCh38: 6:35823392-35823392
38 LHFPL5 NM_182548.4(LHFPL5):c.*429C>T SNV Uncertain significance 907962 GRCh37: 6:35791171-35791171
GRCh38: 6:35823394-35823394
39 LHFPL5 NM_182548.4(LHFPL5):c.*431C>T SNV Uncertain significance 907963 GRCh37: 6:35791173-35791173
GRCh38: 6:35823396-35823396
40 LHFPL5 NM_182548.4(LHFPL5):c.*433C>T SNV Uncertain significance 907964 GRCh37: 6:35791175-35791175
GRCh38: 6:35823398-35823398
41 LHFPL5 NM_182548.4(LHFPL5):c.*443C>T SNV Uncertain significance 907965 GRCh37: 6:35791185-35791185
GRCh38: 6:35823408-35823408
42 LHFPL5 NM_182548.4(LHFPL5):c.*475C>T SNV Uncertain significance 356515 rs13205046 GRCh37: 6:35791217-35791217
GRCh38: 6:35823440-35823440
43 LHFPL5 NM_182548.4(LHFPL5):c.*477T>C SNV Uncertain significance 356518 rs868411000 GRCh37: 6:35791219-35791219
GRCh38: 6:35823442-35823442
44 LHFPL5 NM_182548.4(LHFPL5):c.*779G>A SNV Uncertain significance 356548 rs139570565 GRCh37: 6:35791521-35791521
GRCh38: 6:35823744-35823744
45 LHFPL5 NM_182548.4(LHFPL5):c.*419T>C SNV Uncertain significance 356499 rs146860559 GRCh37: 6:35791161-35791161
GRCh38: 6:35823384-35823384
46 LHFPL5 NM_182548.4(LHFPL5):c.*169G>C SNV Uncertain significance 356493 rs181922784 GRCh37: 6:35790911-35790911
GRCh38: 6:35823134-35823134
47 LHFPL5 NM_182548.4(LHFPL5):c.-93C>T SNV Uncertain significance 356485 rs540528658 GRCh37: 6:35773355-35773355
GRCh38: 6:35805578-35805578
48 LHFPL5 NM_182548.4(LHFPL5):c.*1035C>T SNV Uncertain significance 356554 rs186453856 GRCh37: 6:35791777-35791777
GRCh38: 6:35824000-35824000
49 LHFPL5 NM_182548.4(LHFPL5):c.-161A>G SNV Uncertain significance 356482 rs886061342 GRCh37: 6:35773287-35773287
GRCh38: 6:35805510-35805510
50 LHFPL5 NM_182548.4(LHFPL5):c.*827G>T SNV Uncertain significance 356551 rs545462913 GRCh37: 6:35791569-35791569
GRCh38: 6:35823792-35823792

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 67:

72
# Symbol AA change Variation ID SNP ID
1 LHFPL5 p.Tyr127Cys VAR_032055 rs104893975
2 LHFPL5 p.Thr165Met VAR_032056 rs104893976
3 LHFPL5 p.Arg176Leu VAR_032057 rs774466373
4 LHFPL5 p.Arg158Trp VAR_079038 rs753739358

Expression for Deafness, Autosomal Recessive 67

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 67.

Pathways for Deafness, Autosomal Recessive 67

GO Terms for Deafness, Autosomal Recessive 67

Cellular components related to Deafness, Autosomal Recessive 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 TMIE TMC2 PJVK PCDH15 LHFPL5 LHFPL3
2 integral component of membrane GO:0016021 9.86 TMIE TMC2 PJVK PCDH15 LRTOMT LHFPL5
3 plasma membrane GO:0005886 9.56 TMC2 PCDH15 LRTOMT LHFPL5 LHFPL3 ILDR1
4 photoreceptor outer segment GO:0001750 9.37 PCDH15 CIB2
5 stereocilium GO:0032420 9.16 PCDH15 CIB2
6 stereocilium tip GO:0032426 8.62 TMC2 LHFPL5

Biological processes related to Deafness, Autosomal Recessive 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.17 TMIE PJVK PCDH15 LRTOMT LHFPL5 LHFPL3
2 photoreceptor cell maintenance GO:0045494 9.16 PCDH15 CIB2
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.13 TMC2 PJVK LHFPL5

Sources for Deafness, Autosomal Recessive 67

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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