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2,240 Possible Causes for Mutations in the Cystinosis Gene, Polydactyly, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] […] pain, paraesthesia and loss of power of palmar muscles; associated with rheumatoid arthritis Carpenter's syndrome; acrocephalopolysyndactyly oxycephaly, bradysyndactyly and polydactyly[medical-dictionary.thefreedictionary.com] […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com]

  • Retinitis Pigmentosa

    […] encoding an integral membrane protein is mutated in nephropathic cystinosis.[doi.org] The two siblings showed signs of RP and polydactyly.[ncbi.nlm.nih.gov] […] are more likely to develop symptoms of RP earlier than those diagnosed with type two Laurence-Moon-Bardet-Beidl Syndrome – the symptoms of this syndrome can include RP, polydactyly[svrc.vic.edu.au]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Kidney Disease

    A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature genetics, 18, 319.[centogene.com] Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] Figure 1: Case I showing encephalocele ( à ) and polydactyly (*) Figure 2: Case II showing encephalocele («), ambiguous genitilia(*) and polydactyly ( à ) Case Presentation[npplweb.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Simpson Dysmorphia Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov] Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and broad with dysplatic nails Cutaneous syndactyly Polydactyly[en.wikipedia.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Acrocallosal Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes.[ncbi.nlm.nih.gov] […] degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Pfeiffer-Palm-Teller Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] Polydactyly postaxiale labial slit mediane Polydactyly postaxiale backwardness Polydactyly preaxiale Polydactyly preaxiale colobome backwardness small size Polydactyly (generic[wikipedia.qwika.com] Polydactyly postaxial dental and vertebral[?] Polydactyly postaxial with median cleft of upper lip[?] Polydactyly postaxial[?] Polydactyly preaxial type 1[?][encyclopedia.kids.net.au]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Pseudoaminopterin Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] […] eyelids 0045025 Oligodontia Failure of development of more than six teeth 0000677 Posteriorly rotated ears Ears rotated toward back of head 0000358 Rudimentary postaxial polydactyly[rarediseases.info.nih.gov] […] with median cleft of upper lip Polydactyly postaxial Polydactyly preaxial type 1 Polydactyly syndrome middle ray duplication Polydactyly visceral anomalies cleft lip palate[wikidoc.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Man [ edit ] Mandibuloacral dysplasia Mandibulofacial dysostosis deafness postaxial polydactyly[en.wikipedia.org] […] aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial clefting syndrome Man Mandibuloacral dysplasia Mandibulofacial dysostosis deafness postaxial polydactyly[thefullwiki.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] […] pain, paraesthesia and loss of power of palmar muscles; associated with rheumatoid arthritis Carpenter's syndrome; acrocephalopolysyndactyly oxycephaly, bradysyndactyly and polydactyly[medical-dictionary.thefreedictionary.com] mutations of the cystinosis gene ( CTNS ).[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Acrorenal Mandibular Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] Clavicles And Scapulae: missing ribs hypoplastic scapulae irregular, thin ribs Genitourinary Kidneys: renal agenesis polycystic kidneys Skeletal Feet: syndactyly split foot polydactyly[malacards.org] […] septate uterus skeletal anomalies rib and vertebral anomalies limb deficiencies split feet split hand foot claw-like deformity associating ectrodactyly, syndactyly, and polydactyly[humpath.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria

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