MCID: XLN174
MIFTS: 20

X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

MalaCards integrated aliases for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn:

Name: X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 58
X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn 58
X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn 58
X-Linked Isolated Sensorineural Hearing Loss Type Dfn 58
X-Linked Non-Syndromic Neurosensory Deafness Type Dfn 58
X-Linked Isolated Neurosensory Hearing Loss Type Dfn 58
X-Linked Isolated Sensorineural Deafness Type Dfn 58
X-Linked Isolated Neurosensory Deafness Type Dfn 58

Characteristics:

Orphanet epidemiological data:

58
x-linked non-syndromic sensorineural deafness type dfn
Inheritance: X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases


External Ids:

ICD10 via Orphanet 33 H90.3
Orphanet 58 ORPHA90625

Summaries for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

MalaCards based summary : X-Linked Non-Syndromic Sensorineural Deafness Type Dfn, also known as x-linked non-syndromic sensorineural hearing loss type dfn, is related to charcot-marie-tooth disease, x-linked dominant, 6 and hereditary hearing loss and deafness. An important gene associated with X-Linked Non-Syndromic Sensorineural Deafness Type Dfn is SMPX (Small Muscle Protein X-Linked).

Related Diseases for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Diseases related to X-Linked Non-Syndromic Sensorineural Deafness Type Dfn via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked dominant, 6 9.7 SMPX PRPS1
2 hereditary hearing loss and deafness 9.7 SMPX PRPS1
3 deafness, x-linked 3 9.4 SMPX PRPS1 COL4A6
4 deafness, x-linked 6 9.4 SMPX PRPS1 COL4A6
5 deafness, x-linked 1 9.4 SMPX PRPS1 COL4A6
6 deafness, x-linked 4 9.4 SMPX PRPS1 COL4A6
7 x-linked nonsyndromic deafness 9.4 SMPX PRPS1 COL4A6
8 deafness, x-linked 5, with peripheral neuropathy 9.4 SMPX PRPS1 COL4A6
9 deafness, x-linked 2 9.3 SMPX PRPS1 COL4A6
10 sensorineural hearing loss 9.1 SMPX PRPS1 COL4A6

Graphical network of the top 20 diseases related to X-Linked Non-Syndromic Sensorineural Deafness Type Dfn:



Diseases related to X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Symptoms & Phenotypes for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Drugs & Therapeutics for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Search Clinical Trials , NIH Clinical Center for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Genetic Tests for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Anatomical Context for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Publications for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Articles related to X-Linked Non-Syndromic Sensorineural Deafness Type Dfn:

(show all 11)
# Title Authors PMID Year
1
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 6
25182139 2015
2
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. 6
23714752 2014
3
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 6
24528855 2014
4
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. 6
22911656 2013
5
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. 6
21549342 2011
6
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 6
21549336 2011
7
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 6
20021999 2010
8
Refinement of the locus for non-syndromic sensorineural deafness (DFN2). 6
15240907 2004
9
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21. 6
10503584 1999
10
Mapping of DFN2 to Xq22. 6
8968763 1996
11
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 6
8872482 1996

Variations for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

ClinVar genetic disease variations for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPS1 NM_001204402.1(PRPS1):c.-82-5812G>A SNV Pathogenic 9938 rs180177151 GRCh37: X:106882595-106882595
GRCh38: X:107639365-107639365
2 PRPS1 NM_001204402.1(PRPS1):c.-82-5746G>A SNV Pathogenic 9939 rs180177152 GRCh37: X:106882661-106882661
GRCh38: X:107639431-107639431
3 PRPS1 NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) SNV Pathogenic 9940 rs180177154 GRCh37: X:106893221-106893221
GRCh38: X:107649991-107649991
4 PRPS1 NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) SNV Pathogenic 9941 rs180177153 GRCh37: X:106893174-106893174
GRCh38: X:107649944-107649944
5 SMPX NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) SNV Pathogenic 29945 rs387906706 GRCh37: X:21755773-21755773
GRCh38: X:21737655-21737655
6 SMPX NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) SNV Pathogenic 29946 rs387906707 GRCh37: X:21761891-21761891
GRCh38: X:21743773-21743773
7 SMPX NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) SNV Pathogenic 29947 rs387906708 GRCh37: X:21755734-21755734
GRCh38: X:21737616-21737616
8 SMPX NM_014332.3(SMPX):c.130del (p.Glu44fs) Deletion Pathogenic 29948 rs398122848 GRCh37: X:21761870-21761870
GRCh38: X:21743752-21743752
9 SMPX NM_014332.3(SMPX):c.99del (p.Arg34fs) Deletion Pathogenic 40063 rs398122930 GRCh37: X:21761901-21761901
GRCh38: X:21743783-21743783
10 PRPS1 NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) SNV Pathogenic 223100 rs869025593 GRCh37: X:106890961-106890961
GRCh38: X:107647731-107647731
11 COL4A6 NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) SNV Pathogenic 102425 rs779748859 GRCh37: X:107430509-107430509
GRCh38: X:108187279-108187279
12 PRPS1 NM_002764.3(PRPS1):c.337G>T (p.Ala113Ser) SNV Pathogenic 140571 rs587781261 GRCh37: X:106884162-106884162
GRCh38: X:107640932-107640932
13 PRPS1 NM_002764.3(PRPS1):c.343A>G (p.Met115Val) SNV Pathogenic 140572 rs587781262 GRCh37: X:106884168-106884168
GRCh38: X:107640938-107640938
14 COL4A6 NM_033641.4(COL4A6):c.788_791dup (p.Pro265fs) Duplication Pathogenic 1032773 GRCh37: X:107446200-107446201
GRCh38: X:108202970-108202971
15 SMPX NM_014332.3(SMPX):c.133-1G>A SNV Likely pathogenic 417903 rs1060499590 GRCh37: X:21755816-21755816
GRCh38: X:21737698-21737698
16 SMPX NM_014332.3(SMPX):c.29del (p.Asn10fs) Deletion Likely pathogenic 975949 GRCh37: X:21772380-21772380
GRCh38: X:21754262-21754262
17 PRPS1 NM_002764.4(PRPS1):c.*137C>T SNV Uncertain significance 915184 GRCh37: X:106893399-106893399
GRCh38: X:107650169-107650169
18 PRPS1 NM_002764.4(PRPS1):c.*539G>C SNV Uncertain significance 912516 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
19 PRPS1 NM_002764.4(PRPS1):c.*539G>T SNV Uncertain significance 912517 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
20 PRPS1 NM_002764.4(PRPS1):c.*608C>T SNV Uncertain significance 912518 GRCh37: X:106893870-106893870
GRCh38: X:107650640-107650640
21 SMPX NM_014332.3(SMPX):c.*232T>G SNV Uncertain significance 913387 GRCh37: X:21724295-21724295
GRCh38: X:21706177-21706177
22 SMPX NM_014332.3(SMPX):c.*181A>G SNV Uncertain significance 913388 GRCh37: X:21724346-21724346
GRCh38: X:21706228-21706228
23 PRPS1 NM_002764.4(PRPS1):c.*389G>A SNV Uncertain significance 913589 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
24 PRPS1 NM_002764.4(PRPS1):c.*726C>T SNV Uncertain significance 913628 GRCh37: X:106893988-106893988
GRCh38: X:107650758-107650758
25 PRPS1 NM_002764.4(PRPS1):c.*423T>A SNV Uncertain significance 913984 GRCh37: X:106893685-106893685
GRCh38: X:107650455-107650455
26 PRPS1 NM_002764.4(PRPS1):c.*508G>C SNV Uncertain significance 913985 GRCh37: X:106893770-106893770
GRCh38: X:107650540-107650540
27 SMPX NM_014332.3(SMPX):c.-103C>T SNV Uncertain significance 914501 GRCh37: X:21776150-21776150
GRCh38: X:21758032-21758032
28 PRPS1 NM_002764.3(PRPS1):c.*538G>C SNV Uncertain significance 367708 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
29 PRPS1 NM_002764.3(PRPS1):c.*159G>A SNV Uncertain significance 367704 rs747334780 GRCh37: X:106893421-106893421
GRCh38: X:107650191-107650191
30 SMPX NM_014332.3(SMPX):c.264G>A (p.Gln88=) SNV Uncertain significance 368151 rs1057515839 GRCh37: X:21755684-21755684
GRCh38: X:21737566-21737566
31 PRPS1 NM_002764.3(PRPS1):c.*166G>A SNV Uncertain significance 367705 rs371265973 GRCh37: X:106893428-106893428
GRCh38: X:107650198-107650198
32 PRPS1 NM_002764.3(PRPS1):c.*389G>C SNV Uncertain significance 367707 rs5962870 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
33 SMPX NM_014332.3(SMPX):c.*395T>G SNV Uncertain significance 368149 rs765339045 GRCh37: X:21724132-21724132
GRCh38: X:21706014-21706014
34 PRPS1 NM_002764.3(PRPS1):c.*538G>T SNV Uncertain significance 367709 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
35 PRPS1 NM_002764.3(PRPS1):c.*88C>T SNV Uncertain significance 367703 rs1057515726 GRCh37: X:106893350-106893350
GRCh38: X:107650120-107650120
36 SMPX NM_014332.3(SMPX):c.*45A>T SNV Uncertain significance 368150 rs1057515838 GRCh37: X:21724482-21724482
GRCh38: X:21706364-21706364
37 PRPS1 NM_002764.3(PRPS1):c.*762G>T SNV Uncertain significance 367711 rs768310830 GRCh37: X:106894024-106894024
GRCh38: X:107650794-107650794
38 SMPX NM_014332.3(SMPX):c.-54G>A SNV Uncertain significance 368153 rs1057515840 GRCh37: X:21776101-21776101
GRCh38: X:21757983-21757983
39 PRPS1 NM_002764.3(PRPS1):c.444G>A (p.Glu148=) SNV Likely benign 367702 rs201285459 GRCh37: X:106885634-106885634
GRCh38: X:107642404-107642404
40 PRPS1 NM_002764.4(PRPS1):c.720C>T (p.Gly240=) SNV Likely benign 701064 rs746885792 GRCh37: X:106890851-106890851
GRCh38: X:107647621-107647621
41 COL4A6 NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) SNV Likely benign 982952 GRCh37: X:107402862-107402862
GRCh38: X:108159632-108159632
42 PRPS1 NM_002764.3(PRPS1):c.447G>A (p.Pro149=) SNV Benign 21323 rs80338730 GRCh37: X:106885637-106885637
GRCh38: X:107642407-107642407
43 PRPS1 NM_002764.4(PRPS1):c.456A>G (p.Leu152=) SNV Benign 164996 rs61735617 GRCh37: X:106885646-106885646
GRCh38: X:107642416-107642416
44 PRPS1 NM_002764.4(PRPS1):c.*158C>T SNV Benign 912472 GRCh37: X:106893420-106893420
GRCh38: X:107650190-107650190
45 PRPS1 NM_002764.3(PRPS1):c.*725T>C SNV Benign 367710 rs183744100 GRCh37: X:106893987-106893987
GRCh38: X:107650757-107650757
46 SMPX NM_014332.3(SMPX):c.132G>A (p.Glu44=) SNV Benign 368152 rs199907508 GRCh37: X:21761868-21761868
GRCh38: X:21743750-21743750
47 PRPS1 NM_002764.3(PRPS1):c.*178G>A SNV Benign 367706 rs576933222 GRCh37: X:106893440-106893440
GRCh38: X:107650210-107650210
48 PRPS1 NM_002764.4(PRPS1):c.477C>T (p.Ile159=) SNV Benign 94083 rs61752962 GRCh37: X:106885667-106885667
GRCh38: X:107642437-107642437

Expression for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Search GEO for disease gene expression data for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn.

Pathways for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

GO Terms for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

Sources for X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

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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