MCID: USH006
MIFTS: 48

Usher Syndrome, Type 1b malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Usher Syndrome, Type 1b

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Aliases & Descriptions for Usher Syndrome, Type 1b:

Name: Usher Syndrome, Type 1b 49 11 45
Ush1 21 45 22 51
Usher's Syndrome Type 1b 67 24
Usher Syndrome, Type 1e 11 45
Usher Syndrome Type 1e 22 24
Usher Syndrome Type I 21 22
Usher Syndrome Type 1 22 51
Ush1e 45 22
Ush1b 22 67
Retinitis Pigmentosa and Congenital Deafness 45
Usher Syndrome, Type I, French Variety 45
Usher Syndrome, Type Ie 65
 
Usher Syndrome, Type Ib 65
Usher Syndrome, Type 1a 45
Usher Syndrome, Type 1 45
Usher Syndrome, Type I 65
Usher Syndrome Type 1b 22
Usher Syndrome Type Ib 67
Usher Syndrome 1b 67
Ush 1b 22
Ushib 67
Ush1a 45
Ush 1 22
Us1 45

Characteristics:

Orphanet epidemiological data:

51
ush1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
Inheritance: autosomal recessive inheritance
usher syndrome, type 1b:
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 276900
Orphanet51 231169
UMLS via Orphanet66 C0339533
ICD10 via Orphanet28 H35.5
MeSH36 D052245
UMLS65 C1568247, C1865865, C1848638

Summaries for Usher Syndrome, Type 1b

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OMIM:49 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 ush1, is related to pulmonary tuberculosis and usher syndrome, type 1c, 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 heart, and related mouse phenotypes are vision/eye and behavior/neurological.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Usher syndrome 1B: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

GeneReviews summary for NBK1265

Related Diseases for Usher Syndrome, Type 1b

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Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c usher syndrome, type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

Diseases related to Usher Syndrome, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary tuberculosis29.4CDH23, MYO7A, USH1C
2usher syndrome, type 1c11.8
3usher syndrome, type ik10.6
4usher syndrome, type 1d10.6
5usher syndrome, type ij10.6
6usher syndrome, type 2a10.5
7usher syndrome, type 2c10.5
8usher syndrome, type 2d10.5
9usher syndrome, type 1f10.5
10usher syndrome, type 1g10.4
11ascariasis10.3
12endotheliitis10.3
13neuroblastoma10.3
14retinitis10.3
15retinal degeneration10.3
16obesity10.2
17retinoblastoma10.2
18alcohol abuse10.2
19leukemia10.2
20glomus tumor10.2
21cerebritis10.2
22bilateral retinoblastoma10.2
23ophthalmoplegia10.2
24vasculitis10.2
25large granular lymphocyte leukemia10.2
26neutropenia10.2
27renal clear cell carcinoma10.2
28hypersplenism10.2
29cocaine dependence10.2
30precocious puberty10.2
31central precocious puberty10.2
32breast cancer10.1
33coronary artery disease10.1
34hodgkin lymphoma10.1
35cushing's syndrome10.1
36tuberculosis10.1
37influenza10.1
38usher syndrome type 1k10.1CIB2, MYO7A
39dhdds-cdg10.0MYO7A, PCDH15
40embryonal testis carcinoma10.0MYO7A, PCDH15
41deafness, autosomal recessive 18a9.7MYO7A, USH1C, USH1G
42deafness, autosomal recessive9.7CIB2, USH1C
43deafness, autosomal recessive 239.5MYO7A, PCDH15, USH1C, USH1G
44deafness, autosomal recessive 129.4CDH23, PCDH15, USH1C
45autosomal dominant nonsyndromic deafness9.3CDH23, CIB2, MYO7A, PCDH15
46pyeloureteritis cystica9.3CDH23, MYO7A, PCDH15, USH1C
47intermittent squint9.2CDH23, PCDH15, USH1C
48self-healing papular mucinosis9.0CDH23, CIB2, MYO7A, PCDH15, USH1C
49amelogenesis imperfecta, type ig9.0CDH23, MYO7A, PCDH15, USH1C, USH1G
50familial partial lipodystrophy8.7CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G

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:

 51 (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 22)
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 nyctalopia hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 incoordination hallmark (90%) HP:0002311
7 abnormality of 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 vestibular areflexia HP:0008568
16 congenital sensorineural hearing impairment HP:0008527
17 rod-cone dystrophy HP:0000510
18 absent vestibular function HP:0008555
19 motor delay HP:0001270
20 visual loss HP:0000572
21 undetectable electroretinogram HP:0000550
22 sensorineural hearing impairment HP:0000407

Drugs & Therapeutics for Usher Syndrome, Type 1b

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
2A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1BEnrolling by invitationNCT02065011Phase 1, Phase 2

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 I22 USH1H
2 Usher Syndrome Type 1b22 MYO7A
3 Usher Syndrome Type 1e22

Anatomical Context for Usher Syndrome, Type 1b

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

33
Cerebellum, Eye, Heart, Adipocyte

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.8CDH23, MYO7A, PCDH15, USH1C, USH1G
2MP:00053867.2CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
3MP:00053777.2CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
4MP:00036317.1CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G

Publications for Usher Syndrome, Type 1b

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Articles related to Usher Syndrome, Type 1b:

(show all 11)
idTitleAuthorsYear
1
Efficacy of topical calcineurin inhibitors in psoriasis. (24377467)
2014
2
Identification of a disease-defining gene fusion in epithelioid hemangioendothelioma. (21885404)
2011
3
A phase I study with an expanded cohort to assess the feasibility of intraperitoneal carboplatin and intravenous paclitaxel in untreated ovarian, fallopian tube, and primary peritoneal carcinoma: A Gynecologic Oncology Group study. (21277623)
2011
4
Clinical, neuropathologic, and biochemical profile of the amyloid precursor protein I716F mutation. (20010303)
2010
5
Human apoA-I/C-III/A-IV gene cluster transgenic rabbits: effects of a high-cholesterol diet. (15304365)
2004
6
Cholesterol, a cell size-dependent signal that regulates glucose metabolism and gene expression in adipocytes. (11278795)
2001
7
The influence of dose of angiotensin I-converting enzyme inhibitor on systolic blood pressure variability in heart failure: a substudy of the Assessment of Treatment with Lisinopril and Survival in heart failure (ATLAS) trial. (11433128)
2001
8
Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease. (10681083)
2000
9
Natural history of ovarian adenocarcinomas: from epidemiology to experimentation]. (9864887)
1998
10
Disaggregation of corneocytes from surfactant-treated sheets of stratum corneum in hyperkeratosis on psoriasis, ichthyosis vulgaris and atopic dermatitis. (9241964)
1997
11

Variations for Usher Syndrome, Type 1b

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

67 (show all 46)
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
46MYO7Ap.Glu1812LysVAR_074074

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

5 (show all 97)
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
5MYO7ANM_000260.3(MYO7A): c.93C> A (p.Cys31Ter)single nucleotide variantPathogenicrs35689081GRCh37Chr 11, 76853829: 76853829
6MYO7ANM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter)single nucleotide variantPathogenicrs121965085GRCh37Chr 11, 76885862: 76885862
7MYO7ANM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs)deletionPathogenicrs797044490GRCh37Chr 11, 76869446: 76869449
8MYO7ANM_000260.3(MYO7A): c.977T> A (p.Leu326Gln)single nucleotide variantLikely pathogenicrs797044491GRCh38Chr 11, 77158404: 77158404
9MYO7ANM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg)single nucleotide variantLikely pathogenicrs727503329GRCh37Chr 11, 76901883: 76901883
10MYO7ANM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile)single nucleotide variantLikely pathogenicrs377670513GRCh38Chr 11, 77211909: 77211909
11MYO7ANM_000260.3(MYO7A): c.470+1G> Asingle nucleotide variantPathogenicrs797044510GRCh37Chr 11, 76867138: 76867138
12MYO7ANM_000260.3(MYO7A): c.73G> A (p.Gly25Arg)single nucleotide variantLikely pathogenicrs782252317GRCh38Chr 11, 77142763: 77142763
13MYO7ANM_000260.3(MYO7A): c.77C> A (p.Ala26Glu)single nucleotide variantLikely pathogenicrs369125667GRCh37Chr 11, 76853813: 76853813
14MYO7ANM_000260.3(MYO7A): c.2863G> A (p.Gly955Ser)single nucleotide variantLikely pathogenicrs781988557GRCh37Chr 11, 76892594: 76892594
15MYO7ANM_000260.3(MYO7A)duplicationLikely pathogenicrs111033388GRCh38Chr 11, 77214662: 77214682
16MYO7ANM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu)single nucleotide variantLikely pathogenicrs369458838GRCh37Chr 11, 76901818: 76901818
17MYO7ANM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs376764423GRCh37Chr 11, 76919517: 76919517
18MYO7ANM_000260.3(MYO7A): c.1208A> G (p.Tyr403Cys)single nucleotide variantLikely pathogenicrs797044511GRCh37Chr 11, 76872026: 76872026
19MYO7ANM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro)single nucleotide variantLikely pathogenicrs727504541GRCh37Chr 11, 76915258: 76915258
20MYO7ANM_000260.3(MYO7A): c.689C> T (p.Ala230Val)single nucleotide variantPathogenicrs797044512GRCh37Chr 11, 76868004: 76868004
21MYO7ANM_000260.3(MYO7A): c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs)indelPathogenicrs797044513GRCh37Chr 11, 76900449: 76900456
22MYO7ANC_000011.10: g.(?_77212952)_(77214696_?)deldeletionPathogenicGRCh37Chr 11, 76923997: 76925741
23MYO7ANM_000260.3(MYO7A): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs797044518GRCh37Chr 11, 76841681: 76841681
24MYO7ANM_000260.3(MYO7A): c.6231dupG (p.Lys2078Glufs)duplicationPathogenicrs730880367GRCh37Chr 11, 76922376: 76922376
25MYO7ANM_000260.3(MYO7A): c.287C> T (p.Thr96Met)single nucleotide variantLikely pathogenicrs781811444GRCh37Chr 11, 76866954: 76866954
26MYO7ANM_000260.3(MYO7A): c.5968C> T (p.Gln1990Ter)single nucleotide variantPathogenicrs773844428GRCh37Chr 11, 76919765: 76919765
27MYO7ANM_000260.3(MYO7A): c.4115T> G (p.Val1372Gly)single nucleotide variantLikely pathogenicrs869312181GRCh38Chr 11, 77192241: 77192241
28MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)single nucleotide variantLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
29MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
30MYO7ANM_000260.3(MYO7A): c.132+5G> Asingle nucleotide variantLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
31MYO7ANM_000260.3(MYO7A): c.1344-2A> Gsingle nucleotide variantPathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
32MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)single nucleotide variantLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
33MYO7ANM_000260.3(MYO7A): c.1401_1403dupGCA (p.Arg467_His468insGln)duplicationLikely pathogenicrs111033219GRCh37Chr 11, 76873223: 76873225
34MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
35MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
36MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs606231379GRCh37Chr 11, 76873900: 76873900
37MYO7ANM_000260.3(MYO7A): c.1690+1G> Asingle nucleotide variantLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
38MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
39MYO7ANM_000260.3(MYO7A): c.19-1G> Asingle nucleotide variantLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
40MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
41MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
42MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
43MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
44MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
45MYO7ANM_000260.3(MYO7A): c.2094+1G> Csingle nucleotide variantLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
46MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
47MYO7ANM_000260.3(MYO7A): c.2187+1G> Asingle nucleotide variantLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
48MYO7ANM_000260.3(MYO7A): c.2283-1G> Tsingle nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
49MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
50MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
51MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
52MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
53MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)single nucleotide variantLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
54MYO7ANM_000260.3(MYO7A): c.3543_3544dupCA (p.Asn1182Thrfs)duplicationLikely pathogenicrs111033390GRCh37Chr 11, 76900428: 76900429
55MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)single nucleotide variantLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
56MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
57MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
58MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901162
59MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
60MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)single nucleotide variantLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
61MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867064
62MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)single nucleotide variantLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
63MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
64MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
65MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)single nucleotide variantLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
66MYO7ANM_000260.3(MYO7A): c.4442-2A> Csingle nucleotide variantLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
67MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
68MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)single nucleotide variantLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
69MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
70MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
71MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
72MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
73MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914144
74MYO7ANM_000260.3(MYO7A): c.5327-11A> Gsingle nucleotide variantLikely pathogenicrs397516316GRCh37Chr 11, 76915110: 76915110
75MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
76MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
77MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916607
78MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
79MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)single nucleotide variantLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
80MYO7ANM_000260.3(MYO7A): c.5648G> A (p.Arg1883Gln)single nucleotide variantLikely pathogenicrs111033215GRCh37Chr 11, 76917153: 76917153
81MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)single nucleotide variantPathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
82MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)single nucleotide variantLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
83MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
84MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
85MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)single nucleotide variantLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
86MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
87MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)single nucleotide variantLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
88MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
89MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
90MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
91MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)single nucleotide variantLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
92MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
93MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
94MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
95MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)single nucleotide variantLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
96MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)single nucleotide variantLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
97MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472

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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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
1cytoplasmGO:00057378.0CIB2, MYO7A, PCDH15, USH1C, USH1G

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:00454949.1CDH23, PCDH15
2sensory perception of light stimulusGO:00509538.5CDH23, PCDH15, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.5MYO7A, USH1C

Sources for Usher Syndrome, Type 1b

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet