Create issue ticket

2,511 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Mutation in the PEX7 Gene, Retinitis Pigmentosa

  • Refsum Disease

    Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] Furthermore, we identified mutations in the PEX7 gene.[ncbi.nlm.nih.gov] Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations[ncbi.nlm.nih.gov]

  • Infantile Refsum Disease

    Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] ; however 55% of cases are now attributed to mutations in other genes. [13] Refsum disease 2 stems from mutations in the peroxin 7 (PEX7) gene. [1] [10] This mutation on the[en.wikipedia.org] Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging[ncbi.nlm.nih.gov]

  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] Two genes, PHYH and PEX7, have been implicated in the majority of Refsum cases, although a small number of patients exist in whom mutations have not been found. 51 Although[nature.com] LXXIX The Association of Nerve Deafness and Retinitis Pigmentosa Interval Report . Annals of Otology, Rhinology & Laryngology, Vol. 69, Issue. 4, p. 1044.[journals.cambridge.org]

  • AMACR Deficiency

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] RCDP type 1 is causes by mutations in gene PEX7, which is characterized by systemic shortening of the proximal bones, seizures, and congenital cataracts.[bcm.edu] Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.[ncbi.nlm.nih.gov]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    , bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[refsumdisease.org] In this subgroup of patients causative mutations have been identified in the PEX7 gene encoding the peroxin 7 protein which is implicated in the import of matrix proteins[wjgnet.com] pigmentosa, and cataract AR 16 20 ACO2 Optic atrophy, Infantile cerebellar-retinal degeneration AR 16 15 ADCK3 Coenzyme Q10 deficiency, Progressive cerebellar ataxia and[blueprintgenetics.com]

  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa[malacards.org]

    Missing: Mutation in the PEX7 Gene
  • Retinitis Pigmentosa

    . • Adult Refsum disease caused by mutation in the gene encoding phytanoyl-CoA hydroxylase ( PAHX or PHYH ) or the gene encoding peroxin-7 ( PEX7 ) presents with highly elevated[doi.org] What is Retinitis Pigmentosa? Retinitis Pigmentosa is the name given to a hereditary disease of the retina in the eye.[merritew.tripod.com] Heredity is the major factor for development of retinitis pigmentosa.[symptoma.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Usher Syndrome Type 1K

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Mutation in the PEX7 Gene
  • Usher Syndrome Type 1

    , profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function.[ltd.aruplab.com] In view of the combination of profound hearing loss, vestibular dysfunction, and retinitis pigmentosa in the patients, we classified the disease as USH1.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Mutation in the PEX7 Gene
  • Rhizomelic Chondrodysplasia Punctata Type 2

    GENETICS Rhizomelic Chondrodysplasia Punctata Type 1 is caused by mutations in the PEX7 gene.[evolvegene.com] The latter, however, has other neurological symptoms as well as clinical features of retinitis pigmentosa with night blindness and restricted visual fields.[disorders.eyes.arizona.edu] One child, presenting with developmental delay and poor growth, subsequently developed retinitis pigmentosa and peripheral neuropathy, features overlapping those of adult[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss

Similar symptoms