MCID: USH006
MIFTS: 49

Usher Syndrome, Type 1b malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Summaries for Usher Syndrome, Type 1b

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OMIM:45 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (276900) more...

MalaCards based summary: Usher Syndrome, Type 1b, also known as usher syndrome, type 1e, is related to usher syndrome, type 1d and usher syndrome, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome, Type 1b is MYO7A (myosin VIIA). Affiliated tissues include cerebellum, eye and retina, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

NIH Rare Diseases:41 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

GeneReviews summary for usher1

Aliases & Classifications for Usher Syndrome, Type 1b

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 19GeneReviews, 47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Usher Syndrome, Type 1b, Aliases & Descriptions:

Name: Usher Syndrome, Type 1b 45 10 41 20 22
Usher Syndrome, Type 1e 41 20 22
Ush1 19 41 47
Usher Syndrome, Type I 45 60
Usher Syndrome Type 1 41 47
Retinitis Pigmentosa and Congenital Deafness 41
Usher Syndrome, Type I, French Variety 41
 
Usher Syndrome, Type Ie 60
Usher Syndrome, Type 1a 41
Usher Syndrome, Type 1 41
Usher Syndrome Type I 19
Ush1a 41
Ush1e 41
Us1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
ush1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 276900
Orphanet47 231169
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0339533

Related Diseases for Usher Syndrome, Type 1b

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Graphical network of the top 20 diseases related to Usher Syndrome, Type 1b:



Diseases related to usher syndrome, type 1b

Symptoms for Usher Syndrome, Type 1b

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Symptoms by clinical synopsis from OMIM:

276900

Clinical features from OMIM:

276900

Symptoms:

 47 (show all 18)
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • abnormal erg/electroretinogram/electroretinography
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • cataract/lens opacification
  • hypermetropia
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • psychosis/schizophrenia/maniac disorder
  • enamel anomaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability

HPO human phenotypes related to Usher Syndrome, Type 1b:

(show all 24)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 night blindness hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 incoordination hallmark (90%) HP:0002311
7 abnormal retinal pigmentation hallmark (90%) HP:0007703
8 cognitive impairment hallmark (90%) HP:0100543
9 cataract typical (50%) HP:0000518
10 hypermetropia typical (50%) HP:0000540
11 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
12 abnormality of dental enamel occasional (7.5%) HP:0000682
13 hallucinations occasional (7.5%) HP:0000738
14 cerebral cortical atrophy occasional (7.5%) HP:0002120
15 autosomal recessive inheritance HP:0000007
16 sensorineural hearing impairment HP:0000407
17 retinitis pigmentosa HP:0000510
18 abolished electroretinogram (erg) HP:0000550
19 visual loss HP:0000572
20 motor delay HP:0001270
21 heterogeneous HP:0001425
22 absent vestibular function HP:0008555
23 congenital sensorineural hearing impairment HP:0008527
24 vestibular areflexia HP:0008568

Drugs & Therapeutics for Usher Syndrome, Type 1b

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Drug clinical trials:

Search ClinicalTrials for Usher Syndrome, Type 1b

Search NIH Clinical Center for Usher Syndrome, Type 1b

Genetic Tests for Usher Syndrome, Type 1b

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Genetic tests related to Usher Syndrome, Type 1b:

id Genetic test Affiliating Genes
1 Usher Syndrome Type I20 USH1H
2 Usher Syndrome Type 1b20 MYO7A
3 Usher Syndrome Type 1e20
4 Usher Syndrome, Type 122
5 Usher Syndrome, Type 1b22

Anatomical Context for Usher Syndrome, Type 1b

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MalaCards organs/tissues related to Usher Syndrome, Type 1b:

31
Cerebellum, Eye, Retina

Animal Models for Usher Syndrome, Type 1b or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome, Type 1b:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.4CDH23, MYO7A, USH1C
2MP:00053778.7CDH23, PCDH15, MYO7A, USH1G, USH1C
3MP:00053918.6USH1C, USH1G, MYO7A, PCDH15, CDH23
4MP:00053868.5USH1C, USH1G, MYO7A, PCDH15, CDH23
5MP:00036318.3USH1C, USH1G, MYO7A, PCDH15, CDH23

Publications for Usher Syndrome, Type 1b

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Articles related to Usher Syndrome, Type 1b:

idTitleAuthorsYear
1
EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat. (24705452)
2014
2
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
3
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. (17960123)
2007
4
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. (15965244)
2005
5
Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. (11222540)
2001
6
Origin of vestibular dysfunction in Usher syndrome type 1B. (11162241)
2001
7
Hearing impairment related to age in Usher syndrome types 1B and 2A. (10208682)
1999
8
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. (9761396)
1998
9
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
10
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (7568224)
1995

Variations for Usher Syndrome, Type 1b

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1b:

62 (show all 45)
id Symbol AA change Variation ID SNP ID
1MYO7Ap.Leu16SerVAR_009315rs1052030
2MYO7Ap.Gly25ArgVAR_009316
3MYO7Ap.Arg212CysVAR_009318
4MYO7Ap.Arg212HisVAR_009319rs28934610
5MYO7Ap.Gly214ArgVAR_009320
6MYO7Ap.Arg241SerVAR_009322
7MYO7Ap.Ala397AspVAR_009325
8MYO7Ap.Glu450GlnVAR_009326
9MYO7Ap.Pro503LeuVAR_009328
10MYO7Ap.Leu651ProVAR_009331
11MYO7Ap.Ala826ThrVAR_009332
12MYO7Ap.Gly955SerVAR_009334
13MYO7Ap.Leu1087ProVAR_009335
14MYO7Ap.Glu1170LysVAR_009336
15MYO7Ap.Arg1240GlnVAR_009337
16MYO7Ap.Ala1288ProVAR_009338
17MYO7Ap.Arg1343SerVAR_009339
18MYO7Ap.Arg1602GlnVAR_009340rs139889944
19MYO7Ap.Ala1628SerVAR_009341
20MYO7Ap.Gly2137GluVAR_009347
21MYO7Ap.Gly2163SerVAR_009348
22MYO7Ap.Ala26GluVAR_024039
23MYO7Ap.Val67MetVAR_024040
24MYO7Ap.Arg90ProVAR_024041
25MYO7Ap.Ile134AsnVAR_024042
26MYO7Ap.Thr165MetVAR_024043
27MYO7Ap.Arg241CysVAR_024044
28MYO7Ap.Ala457ValVAR_024046
29MYO7Ap.Gly519AspVAR_024047
30MYO7Ap.Arg756TrpVAR_024048
31MYO7Ap.Glu968AspVAR_024049
32MYO7Ap.Arg1743TrpVAR_024051
33MYO7Ap.Leu1858ProVAR_024052
34MYO7Ap.Arg1883GlnVAR_024053
35MYO7Ap.Pro1887LeuVAR_024054
36MYO7Ap.Gly2187AspVAR_024055
37MYO7Ap.His133AspVAR_027301
38MYO7Ap.Gly163ArgVAR_027302
39MYO7Ap.Lys164ArgVAR_027303
40MYO7Ap.Ala198ThrVAR_027304
41MYO7Ap.Thr204AlaVAR_027305
42MYO7Ap.Glu1327LysVAR_027309
43MYO7Ap.Arg1873TrpVAR_027314
44MYO7Ap.Met946ArgVAR_071646
45MYO7Ap.Glu1248LysVAR_071647

Clinvar genetic disease variations for Usher Syndrome, Type 1b:

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1MYO7ANM_000260.3(MYO7A): c.448C> T (p.Arg150Ter)single nucleotide variantPathogenicrs121965079GRCh37Chr 11, 76867115: 76867115
2MYO7ANM_000260.3(MYO7A): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs41298133GRCh37Chr 11, 76868015: 76868015
3MYO7ANM_000260.3(MYO7A): c.635G> A (p.Arg212His)single nucleotide variantPathogenicrs28934610GRCh37Chr 11, 76867950: 76867950
4MYO7ANM_000260.3(MYO7A): c.1797G> A (p.Met599Ile)single nucleotide variantPathogenicrs121965082GRCh37Chr 11, 76877208: 76877208
5USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
6USH1GUSH1G, 2-BP DEL, 186CAdeletionPathogenic
7USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
8USH1GUSH1G, 1-BP INS, 393GinsertionPathogenic
9USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
10USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
11USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
12USH1CUSH1C, IVS16, G-T, -1single nucleotide variantPathogenic
13USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
14CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
15CDH23NM_022124.5(CDH23): c.4488G> C (p.Gln1496His)single nucleotide variantPathogenicrs121908347GRCh37Chr 10, 73499529: 73499529
16CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
17CDH23CDH23, 3-BP DEL, 3841ATGdeletionPathogenic
18CDH23CDH23, IVS51, G-A, +5single nucleotide variantPathogenic
19NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter)single nucleotide variantPathogenicrs121908350GRCh37Chr 10, 73491908: 73491908
20CDH23CDH23, 1-BP DEL, 193CdeletionPathogenic
21PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
22PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantPathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
23PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
24PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
25PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
26PCDH15NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter)single nucleotide variantPathogenicrs137853004GRCh37Chr 10, 55849801: 55849801
27USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
28USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
29USH1CNM_153676.3: c.497-79_541-35[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548622: 17548711
30USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
31USH1CUSH1C, IVS1DS, G-T, +1single nucleotide variantPathogenic
32USH1CUSH1C, IVS5DS, G-A, +1single nucleotide variantPathogenic
33USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815
34USH1CNM_005709.3(USH1C): c.388G> A (p.Val130Ile)single nucleotide variantPathogenicrs55843567GRCh37Chr 11, 17548878: 17548878
35PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960

Expression for genes affiliated with Usher Syndrome, Type 1b

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Search GEO for disease gene expression data for Usher Syndrome, Type 1b.

Pathways for genes affiliated with Usher Syndrome, Type 1b

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Compounds for genes affiliated with Usher Syndrome, Type 1b

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GO Terms for genes affiliated with Usher Syndrome, Type 1b

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Cellular components related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:00452029.4PCDH15, MYO7A, USH1C
2photoreceptor inner segmentGO:00019179.2USH1C, CIB2, MYO7A
3photoreceptor outer segmentGO:00017509.1PCDH15, MYO7A, USH1C
4stereociliumGO:00324209.1CDH23, PCDH15, MYO7A, USH1C

Biological processes related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.9CDH23, MYO7A
2inner ear morphogenesisGO:00424729.5USH1G, USH1C
3homophilic cell adhesionGO:00071569.5CDH23, PCDH15
4equilibrioceptionGO:00509578.8CDH23, PCDH15, MYO7A, USH1G, USH1C
5sensory perception of light stimulusGO:00509538.8USH1C, USH1G, MYO7A, PCDH15, CDH23
6sensory perception of soundGO:00076058.6USH1C, USH1G, MYO7A, PCDH15, CDH23
7photoreceptor cell maintenanceGO:00454948.6USH1C, USH1G, CIB2, PCDH15, CDH23

Molecular functions related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.4CDH23, PCDH15, CIB2

Products for genes affiliated with Usher Syndrome, Type 1b

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Sources for Usher Syndrome, Type 1b

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet