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660 Possible Causes for Cerebellar Hypoplasia, Nephrolithiasis, Osteoporosis

  • Ankylosing Spondylitis

    After AS diagnosis, a higher proportion of patients developed newly diagnosed cases of cardiovascular diseases, depression, osteoporosis, spinal fracture, IBD, psoriasis,[] Abnormality of the pleura 7.5% Anorexia 7.5% Arrhythmia 7.5% Autoimmunity 7.5% Cartilage destruction 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hyperkeratosis 7.5% Nephrolithiasis[] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[]

  • Peripheral Neuropathy

    Comprehensive health information about cancer, osteoporosis, high blood pressure and more.[] Oxycarbazepine 600-2400 mg Fatigue, nausea, dizziness, leukopenia Lamotrigine 50-500 mg Serious rash, dizziness, nausea, sedation Topiramate 25-400 mg Sedation, weight loss, nephrolithiasis[] Ataxia, And Intellectual Disability, Foveal hypoplasia and presenile cataract syndrome, Anophthalmia, Irido-corneo-trabecular dysgenesis, Wilms tumor, aniridia, genitourinary[]

  • Paraplegia

    Due to the lack of movement and bone load, 60 per cent of all patients develop osteoporosis.[] […] hypertension, and cardiovascular disease, individuals with paraplegia have elevated incidence of recurrent and chronic urinary tract infections, neurogenic bladder dysfunction, and nephrolithiasis[] hypoplasia (Hoyeraal-Hreidarsson syndrome, H00788) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome, H00921) exist.[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] primary B-cell expansion with NFKB and T-cell anergy Bare lymphocyte syndrome Beare-Stevenson cutis gyrata syndrome Bent bone dysplasia syndrome Bone mineral density QTL18, osteoporosis[] Tetralogy of Fallot Isolated focal cortical dysplasia type IIb Lymphangioleiomyomatosis Tuberous sclerosis Autoimmune lymphoproliferative syndrome Dominant hypophosphatemia with nephrolithiasis[] hypoplasia Microcephaly Microcephaly 1 primary autosomal recessive Microcephaly 5 primary autosomal recessive Microcephaly 6 primary autosomal recessive Microcephaly 7 primary[]

  • Osteogenesis Imperfecta

    […] recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis[] […] syndrome, progeroid form AR 8 9 BMP1 Osteogenesis imperfecta AR 7 21 CLCN5 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis[] The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia.[]

  • Cole-Carpenter Syndrome

    The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[] […] fast-channel CHRNG 2q37.1 Escobar syndrome 265000 Multiple pterygium syndrome, lethal type 253290 CLCN5 Xp11.23-p11.22 Dent disease 300009 Hypophosphatemic rickets 300554 Nephrolithiasis[] Next Document: Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?[]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Phenotype Torg syndrome (includes NAO syndrome): multiple, painless, subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), mild to moderate osteoporosis[] COL11A2 Nance-Sweeney chondrodysplasia COL2A1 del, COL11A2 Navajo brainstem syndrome HOXA1 Neck cancer TP63 ( p63) Nemaline myopathy 4 (NEM4) TPM2 Nephroblastoma WT1 del Nephrolithiasis[] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[]

  • Acquired Fanconi Syndrome

    المحتويات Chapter 18 The Spectrum of Pediatric Osteoporosis 439 Chapter 19 Osteogenesis Imperfecta 511 Chapter 20 Sclerosing Bone Dysplasias 541 Chapter 21 Parathyroid Disorders[] "Nephrolithiasis related to inborn metabolic diseases". Pediatric Nephrology. 25 (3): 415–24. doi : 10.1007/s00467-008-1085-6. PMC 2810370. PMID 19156444.[] hypoplasia, hydrocephalus, dilated ventricles 27.[]

  • Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

    […] or Osteoporosis.[] […] dysplasia Cerebellar ataxia with peripheral neuropathy Cerebellar hypoplasia - tapetoretinal degeneration Cerebral malformation Cerebral cavernous malformations Channelopathy[] […] and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.[]

  • Nivelon-Nivelon-Mabille Syndrome

    Team identifies genes influencing bone density May 06, 2014 (Medical Xpress)—Geneticists have taken a major step forward in the battle against osteoporosis by identifying[] […] herpes Neonatal ovarian cyst Neonatal transient jaundice Nep-Net Nephroblastomatosis,fetal ascites,macrosomia and Wilm's tumor Nephrocalcinosis Nephrogenic diabetes insipidus Nephrolithiasis[] Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar[]

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