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3,223 Possible Causes for Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia, Splenomegaly

  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] […] the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly[dermaamin.com] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene
  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] […] samples Increased IgA and IgD in blood Quickly onset fever of more than 38,5 degrees C Lymphadenopathy (90%) at the neck at fever episodes Abdominal pain as by Acute abdomen Splenomegaly[bindevevssykdommer.no] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

    Missing: Splenomegaly
  • Primary Hyperoxaluria

    spastic quadriplegia in boys High serum T 3 - low serum rT 3 Low serum T 4 (sometimes normal) Normal serum TSH (or slightly elevated) Nodular dystrophy of the thyroid Leukocytes[ojrd.biomedcentral.com] […] treatment Damage to cranial nerve and optic nerve Damage to the retina Inflammation of heart membrane (myocarditis) Irregular heartbeat Stroke (cardioembolic) Enlarged spleen (splenomegaly[dovemed.com] […] fibroblasts ABHD5 or PNPLA2 gene mutation No effective treatment MCT8 deficiency Or Allan-Erndon-Dudley syndrome Severe cognitive deficiency, Hypotonia and dystonic movement Progressive[ojrd.biomedcentral.com]

    Missing: Mutation in the VPS53 Gene
  • Aagenaes Syndrome

    , Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPASTIC[rgd.mcw.edu] […] and symptoms: Main signs and symptoms include abdominal pain , acholic stools, fatigue , hepatomegaly, hyperlipidemia , lymphedema, nausea , vomiting , multiple lipomas , splenomegaly[xpertdox.com] […] skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ] 0001000 Multiple lipomas Multiple fatty lumps 0001012 Splenomegaly[rarediseases.info.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Hyperlipoproteinemia Type 5

    […] syndrome Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital erythropoietic porphyria Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] quadriplegia syndrome Congenital intrinsic factor deficiency Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe[se-atlas.de] […] encephalopathy-progressive cerebral atrophy syndrome Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability[se-atlas.de]

    Missing: Mutation in the VPS53 Gene
  • Roifman Syndrome

    , Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPASTIC[rgd.mcw.edu] PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal Spastic Paraplegia, Sensorineural Deafness[rgd.mcw.edu] TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY Spinal Muscular Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality[rgd.mcw.edu]

    Missing: Mutation in the VPS53 Gene
  • Infectious Mononucleosis

    Clinical estimates of splenomegaly are fallible.[ncbi.nlm.nih.gov] In adolescent and adult patients presenting with sore throat, the presence of posterior cervical, inguinal or axillary adenopathy, palatine petechiae, splenomegaly, or atypical[ncbi.nlm.nih.gov] Abdominal ultrasound may be required to assess for splenomegaly.[patient.info]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Hereditary Cryohydrocytosis with Reduced Stomatin

    quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease ELOVL5 Spinocerebellar ataxia FBXL4 Mitochondrial DNA depletion syndrome FGF14 Spinocerebellar[genda.com.ar] Continuing hyperbilirubinaemia and occasional splenomegaly lead to a suspicion of a ‘leaky erythrocytes’.[endocrine-abstracts.org] Gall stones and splenomegaly 6.[ihaematology.com]

    Missing: Mutation in the VPS53 Gene
  • Hemolytic Anemia

    It results in hemolytic anemia and splenomegaly.[icd9data.com] […] suffer from a mild hemolytic anemia (Hb levels ranging from 10 to 12.7g/mL) associated with macrocytosis, reticulocytosis, hyperbilirubinemia, hyperferritinemia and slight splenomegaly[ncbi.nlm.nih.gov] Fetal Splenomegaly: A Review. Ultrasound Q. 2017 Nov 29. [Medline]. George JN.[emedicine.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia

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