Create issue ticket

3,860 Possible Causes for Failure to Thrive, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] Instead, a slowly progressive appearance of neurological manifestations is seen, starting with irritability, failure to thrive, feeding difficulties, and inability to reach[symptoma.com] 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
  • Valinemia

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening.[malacards.org] Related phenotypes are muscle weakness and failure to thrive Wikipedia : 76 Hypervalinemia, also called valinemia or valine transaminase deficiency, is a rare autosomal recessive[malacards.org]

    Missing: Progressive Spastic Quadriplegia
  • Hawkinsinuria

    spastic quadriplegia Progressive microcephaly Intellectual disability, profound Spastic tetraplegia Tetraplegia Neonatal hypotonia Osteoporosis Progressive Flexion contracture[mendelian.co] Metabolic acidosis and failure to thrive appear to be confined to infancy.[ncbi.nlm.nih.gov] Herein we describe clinical and laboratory findings in two fraternal twins with hawkinsinuria who presented with failure to thrive and metabolic acidosis.[ncbi.nlm.nih.gov]

    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: Failure to Thrive
  • CAMFAK Syndrome

    , Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPASTIC[rgd.mcw.edu] Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[malacards.org] Research of Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome has been linked to Microcephaly, Hereditary Diseases, Failure To Thrive, Peripheral Neuropathy[novusbio.com]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Recessive Primary Microcephaly Type 10

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013 ).[mendelian.co] PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.[worldwidescience.org]

    Missing: Progressive Spastic Quadriplegia
  • Familial Infantile Bilateral Striatal Necrosis

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] […] to thrive, myoclonus, quadriparesis, cerebellar ataxia and nystagmus.[orpha.net] The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation[genome.jp]

    Missing: Progressive Spastic Quadriplegia
  • Smith Lemli Opitz Syndrome

    , and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Speech Disturbance - Use[rgd.mcw.edu] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov] We found correlations between multiple congenital malformations, failure to thrive and low plasmatic cholesterol measurement.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Pyruvate Carboxylase Deficiency

    Progressive illness leads to spastic diplegia or quadriplegia and positive Babinski sign.[symptoma.com] Diagnosis PC deficiency is suspected in individuals with failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis.[rarediseases.org] Progressive motor pathway degeneration results in positive Babinski sign and spastic diplegia or quadriplegia.[emedicine.com]

    Missing: Mutation in the VPS53 Gene
  • Organic Aciduria

    spastic diplegia or quadriplegia (described in ARG1D and HHH syndrome) · Vomiting and progressive poor appetite · Protein aversion, self-selected low-protein diet · Liver[doi.org] Abstract We report a patient with a clinical picture consisting of small birth weight, connatal hypoplastic anaemia, vacuolised bone marrow precursors, failure to thrive,[ncbi.nlm.nih.gov] […] to thrive.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene

Similar symptoms