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472 Possible Causes for Cerebellar Hypoplasia, Osteoporosis, Renal Amyloidosis

  • Ankylosing Spondylitis

    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] renal amyloidosis.[ncbi.nlm.nih.gov] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[dentisty.org]

  • 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[iofbonehealth.org] AApoAI amyloidosis AApoAII amyloidosis ABeta2M amyloidosis AFib amyloidosis ATTRV122I amyloidosis ATTRV30M amyloidosis Hereditary amyloidosis with primary renal involement[doczz.fr] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[mygenomics.com]

  • Hoyeraal-Hreidarsson Syndrome

    […] failure, peripheral pancytopenia ( 93%) Others signs: Oesophageal stricture (14%) Pulmonary fibrosis (19%) Liver cirrhosis (5%) Hypogonadism (8%) Abnormal bone trabeculation, osteoporosis[atlasgeneticsoncology.org] Conjunctiva, with Mental Retardation Amyotrophic Dystonic Paraplegia androgen insensitivity syndrome Angelman syndrome Angelucci's syndrome Aniridia, Partial, with Unilateral Renal[rgd.mcw.edu] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov]

  • X-Linked Osteoporosis with Fractures

    […] formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis[ncbi.nlm.nih.gov] Chronic metabolic acidosis Congestive heart failure Depression Emphysema Chronic or end-stage renal disease Chronic liver disease HIV/AIDS Idiopathic scoliosis Immobility[emedicine.medscape.com] hypoplasia.[disorders.eyes.arizona.edu]

  • Roy-Maroteaux-Kremp Syndrome

    Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis[rgd.mcw.edu] Conjunctiva, with Mental Retardation Amyotrophic Dystonic Paraplegia androgen insensitivity syndrome Angelman syndrome Angelucci's syndrome Aniridia, Partial, with Unilateral Renal[rgd.mcw.edu] […] ataxia, mental retardation and dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar[rgd.mcw.edu]

  • Tollner-Horst-Manzke Syndrome

    Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis[rgd.mcw.edu] […] oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Ostium secundum atrial septal defect Oto-palato-digital syndrome type 1 Oto-palato-digital syndrome[rarediseases.info.nih.gov] Conjunctiva, with Mental Retardation Amyotrophic Dystonic Paraplegia androgen insensitivity syndrome Angelman syndrome Angelucci's syndrome Aniridia, Partial, with Unilateral Renal[rgd.mcw.edu]

  • Autosomal Recessive Primary Microcephaly Type 10

    […] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome[se-atlas.de] […] localized cutaneous 1,105250 APOA1 Amyloidosis, 3 or more types, 105200 GSN Amyloidosis, Finnish type, 105120 FGA Amyloidosis, hereditary renal, 105200 LYZ Amyloidosis, renal[gsdseq.ir] hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells[mendelian.co]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] syndrome, Bertini type 7 Cases 85336 X-linked neurodegenerative syndrome, Hamel type 10 Cases 314978 X-linked non progressive cerebellar ataxia 3 Families 391330 X-linked osteoporosis[azkurs.org] […] failure syndrome amyloid cranial neuropathy with lattice corneal dystrophy, see lattice corneal dystrophy type II amyloidosis due to mutant gelsolin, see lattice corneal[mygenomics.com] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org]

  • Lytic Bone Lesion

    Progressive focal bone destruction, including acroosteolysis and generalized osteoporosis.[iofbonehealth.org] […] amyloid A (AA) amyloidosis, and bone marrow failure due to myelofibrosis have been described.[emedicine.medscape.com] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[mygenomics.com]

  • Singleton Merten Syndrome

    There are no life-threatening causes of osteoporosis . However, complications resulting from untreated osteoporosis are common.[wikidoc.org] Conjunctiva, with Mental Retardation Amyotrophic Dystonic Paraplegia androgen insensitivity syndrome Angelman syndrome Angelucci's syndrome Aniridia, Partial, with Unilateral Renal[rgd.mcw.edu] hypoplasia X-linked recessive inheritance Hypertonia Wide nose Hydrocephalus Brachydactyly High palate Cataract Palmoplantar cutis gyrata Abnormality of primary teeth Slender[mendelian.co]

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