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126 Possible Causes for Cerebellar Hypoplasia, IgA Glomerulonephritis, Osteoporosis

  • Ankylosing Spondylitis

    Road disease) Benign mucosal pemphigoid (cicatricial pemphigoid, benign mucous membrane pemphigoid, scarring pemphigoid, ocular cicatricial pemphigoid) Berger’s disease (IgA[autoimmunecoach.co.uk] After AS diagnosis, a higher proportion of patients developed newly diagnosed cases of cardiovascular diseases, depression, osteoporosis, spinal fracture, IBD, psoriasis,[ncbi.nlm.nih.gov] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[dentisty.org]

  • 2-Aminoadipic 2-Oxoadipic Aciduria

    Hypoplasia, and Diabetes Mellitus Albinism alkaptonuria Alpha-Ketoglutarate Dehydrogenase Deficiency Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis[rgd.mcw.edu] Ig-mediated MPGN IGF-1 deficiency IgG subclass deficiency with IgA subclass deficiency IHSC IJO IMAGe syndrome Iminoglycinuria Immigration delay disease Immotile cilia syndrome[csbg.cnb.csic.es] She developed diabetes at age 22 years, and also had osteoporosis with no other bony abnormalities.[findzebra.com]

  • Lysinuric Protein Intolerance

    Immunofluorescence and electron microscopy revealed the presence of a glomerulonephritis with predominant IgA deposition.[ncbi.nlm.nih.gov] Treatment with oral bisphosphonates improves bone mineral density even in severe osteoporosis.[ncbi.nlm.nih.gov] […] atrophy and hypoplasia of the corpus callosum , see Pol III-related leukodystrophy hypomyelination, hypodontia, hypogonadotropic hypogonadism , see Pol III-related leukodystrophy[herenciageneticayenfermedad.blogspot.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] nephropathy Renal anemia Rapidly progressive glomerulonephritis (RPGN) Renal angiomyolipoma Membranoproliferative glomerulonephritis Henoch-Schonlein purpura nephritis Reproductive[csirnotes.com] […] 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[qlinics.com] hypoplasia Microcephaly Microcephaly 1 primary autosomal recessive Microcephaly 5 primary autosomal recessive Microcephaly 6 primary autosomal recessive Microcephaly 7 primary[agdx.portal.cartagenia.com]

  • Auriculoosteodysplasia

    […] nephropathy Renal anemia Rapidly progressive glomerulonephritis (RPGN) Renal angiomyolipoma Membranoproliferative glomerulonephritis Henoch-Schonlein purpura nephritis Reproductive[csirnotes.com] Osteoporosis in Men Osteoporosis Risk Calculator Osteoporosis Risk Factors Osteoporosis Risk in Younger Women Osteoporosis Risk Questionnaire Osteoporosis Screening Osteoporosis[healthmedicinet.com] hypoplasia • Familial expansile osteolysis • Finding of arrangement of skeletal muscle • Hereditary acrosteolysis • Idiopathic multicentric osteolysis • Incomplete ossification[coding-pro.com]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    Freeze and thawed extracts of pharyngeal cells obtained from patients with IgA nephropathy, chronic proliferative glomerulonephritis without IgA deposition (PGN) and healthy[jstage.jst.go.jp] Hypogonadism, osteoporosis, osteosclerosis of digits, and dilated cardiomyopathy were described.[gepedia.com] hypoplasia, retinitis pigmentosa Fanconi anemia 17 FANCA, FACA, FA1, FA, FAA Anemia, leucopenia, thrombocytopenia; cardiac, renal and limb malformations; dermal pigment changes[endocrine.gr]

  • Nestor-Guillermo Progeria Syndrome

    […] nephropathy Renal anemia Rapidly progressive glomerulonephritis (RPGN) Renal angiomyolipoma Membranoproliferative glomerulonephritis Henoch-Schonlein purpura nephritis Reproductive[csirnotes.com] […] progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis[rarediseases.info.nih.gov] hypoplasia, FG syndrome 4, Mental retardation, with or without nystagmus, 17 median depth CASP10 Autoimmune lymphoproliferative syndrome, type II, Lymphoma, non Hodgkin,[healthdocbox.com]

  • Hyperdibasic Aminoaciduria Type 1

    Clinical findings in LPI patients include: vomiting, diarrhea, failure to thrive, hepatosplenomegaly, bone marrow abnormalities, osteoporosis, episodes of coma, mental retardation[humpath.com] […] with malformations Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar[checkrare.com] A deficiency of lysine contributes to the short stature and osteoporosis seen in people with lysinuric protein intolerance.[ghr.nlm.nih.gov]

  • Cutis Laxa

    Premature ageing and glomerulonephritis. Nephrol Dial Transplant 2001;16:615-8. 10. New HD, Callen JP.[idoj.in] Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies.[ncbi.nlm.nih.gov] Cerebellar malformation ranges from mild cerebellar vermis hypoplasia to classic Dandy-Walker malformation, including severe hypoplasia and upward rotation of the vermis,[ncbi.nlm.nih.gov]

  • Reiter's Syndrome

    […] with proteinuria or nephrotic syndrome reported neurologic complications include peripheral neuropathies, encephalopathy, transverse myelitis other rare complications - IgA[enotes.tripod.com] It can have a very similar appearance to psoriatic arthritis with the classic features of ill-defined erosions, enthesopathy, bone proliferation, early juxta-articular osteoporosis[radiopaedia.org] Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential[rarediseases.org]

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