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15 Possible Causes for Abnormal Corticomedullary Differentiation, Defective Osteogenesis, Retinal Degeneration

  • Nephronophthisis 1

    Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com]

  • Medullary Cystic Kidney Disease

    degeneration.[ncbi.nlm.nih.gov] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts (Figure[renalandurologynews.com] Extrarenal manifestations (may be due to a combination of other genetic defects) [ 1 ] Retinal degeneration (Senior-Loken syndrome). [ 6 ] Retinitis pigmentosa.[patient.info]

  • Osteopetrosis

    Riproduci file multimediale Optic-Nerve-Compression-and-Retinal-Degeneration-in-Tcirg1-Mutant-Mice-Lacking-the-Vacuolar-Type-H -pone.0012086.s001.ogv 6,7 s, 512 512; 237 KB[commons.wikimedia.org] […] of growth of tubular bones and spine Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified Q78 Other osteochondrodysplasias Q78.0 Osteogenesis[icd10data.com] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[ncbi.nlm.nih.gov]

  • CAMFAK Syndrome

    […] syndrome Progressive familial intrahepatic cholestasis type 3 Osteogenesis imperfecta type V Mental retardation, X-linked 14 Megaepiphyseal dwarfism Methylmalonic acidemia[checkrare.com] Cockayne described a syndrome characterized by cachectic dwarfism, deafness, and pigmentary retinal degeneration with a characteristic “salt and pepper” appearance of the[dermaamin.com] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[mendelian.co]

  • Waters-West Syndrome

    […] syndrome Progressive familial intrahepatic cholestasis type 3 Osteogenesis imperfecta type V Mental retardation, X-linked 14 Megaepiphyseal dwarfism Methylmalonic acidemia[checkrare.com] Familial, with External and Middle Ear Abnormalities OMIM:607330 Lathosterolosis OMIM:150500 Lattice Degeneration of Retina Leading to Retinal Detachment OMIM:245800 Laurence-Moon[informatics.jax.org] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co]

  • Hypertrichotic Osteochondrodysplasia

    […] syndrome, SOX % 99% Microphthalmia syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, SP % 100% Osteogenesis imperfecta type XII,613849[docplayer.net] […] early-onset osteoarthritis (OD) [MIM: 165800 ] ACAT1 P24752 non-pleiotropic 3-ketothiolase deficiency (3KTD) [MIM: 203750 ] ACO2 Q99798 non-pleiotropic Infantile cerebellar-retinal[sbg.bio.ic.ac.uk] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[mendelian.co]

  • Raine Syndrome

    […] imperfecta osteopetrosis pycnodysostosis osteosclerosis (dominant osteosclerosis type Stanescu) infantile cortical hyperostosis (Coffey disease) osteochondrodysplasias with defective[humpath.com] […] pigmentosa-deafness syndrome Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial[checkrare.com] Corticomedullary differentiation was maintained and no periosteal reaction was noted.[bmcmedgenet.biomedcentral.com]

  • Bangstad Syndrome

    Astley- Kendall syndrome 0 *Chondrodysplasia Punctata *Dwarfism *Osteogenesis Imperfecta.[reference.md] Bourgault S et. al. (2015) Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series. [ ] Update: Sept. 26, 2018[moldiag.com] Ultrasonography (upper image) shows normal appearance of the left kidney with regular corticomedullary differentiation and size.[soc-bdr.org]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    […] imperfecta (n   38), and infants   1 of the birth defects (n   14)...[readbyqxmd.com] degeneration. [5] Cocaine and other street drugs [ edit ] In utero exposure to cocaine and other street drugs can lead to agenesis of corpus callosum. [6] Diagnosis [ edit[en.wikipedia.org] […] of the umbilicus Reduced renal corticomedullary differentiation Duplication of internal organs Malrotation of colon Hypoplastic radial head Cirrhosis Transposition of the[mendelian.co]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    , osteogenesis imperfecta, and Hajdu-Cheney syndrome. [2] Treatment includes supportive measures such as a device to protect the skull and dental care. [2] It affects about[ipfs.io] degeneration, cataracts, arachnodactyly, degenerative arthritis, spondyloepiphyseal dysplasia, pierre robin sequence Spondylocheirodysplastic EDS Wrinkled palms, tapering[quizlet.com] […] syndrome Progressive familial intrahepatic cholestasis type 3 Osteogenesis imperfecta type V Mental retardation, X-linked 14 Megaepiphyseal dwarfism Methylmalonic acidemia[checkrare.com]

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