Usher Syndrome, Type Ic; Ush1c

Description

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Usher Syndrome, Type Ic; Ush1c

  • Hearing impairment
  • Cataract
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Progressive hearing impairment
  • Congenital sensorineural hearing impairment
  • Vestibular dysfunction
  • Severe hearing impairment
  • Vestibular hypofunction

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Usher Syndrome, Type Ic; Ush1c Is also known as usher syndrome, type i, acadian variety.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Usher Syndrome, Type Ic; Ush1c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
USH1C Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

USH1C
Specificity
100 %
Genes
100 %
USH1C Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

USH1C
Specificity
100 %
Genes
100 %
USH1C Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

USH1C
Specificity
100 %
Genes
100 %
USH1C Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

USH1C
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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