{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4660","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4620","results":[{"identifier":"Neurodegeneration with brain iron accumulation 1.","acronym":"NBIA1.","accession":"DI-02126","synonyms":"Hallervorden-Spatz syndrome.; HARP.; HSS.; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration.; Pantothenate kinase-associated neurodegeneration.; PKAN.; PKAN neuroaxonal dystrophy juvenile-onset.; ","cross_references":"MeSH; D006211.","definition":"Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 2A.","acronym":"NBIA2A.","accession":"DI-01819","synonyms":"INAD.; INAD1.; Infantile neuroaxonal dystrophy.; Infantile neuroaxonal dystrophy 1.; Neurodegeneration PLA2G6-associated.; PLAN.; Seitelberger disease.; ","cross_references":"MeSH; D019150.","definition":"A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 2B.","acronym":"NBIA2B.","accession":"DI-02043","synonyms":"Atypical neuroaxonal dystrophy.; Karak syndrome.; Neurodegeneration with brain iron accumulation PLA2G6-related.; ","cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 3.","acronym":"NBIA3.","accession":"DI-02044","synonyms":"Adult-onset basal ganglia disease.; Neuroferritinopathy.; ","cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 4.","acronym":"NBIA4.","accession":"DI-03284","synonyms":"Mitochondrial membrane protein associated neurodegeneration.; MPAN.; ","cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 5.","acronym":"NBIA5.","accession":"DI-03757","synonyms":"Beta-propeller protein-associated neurodegeneration.; BPAN.; SENDA.; Static encephalopathy of childhood with neurodegeneration in adulthood.; ","cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 6.","acronym":"NBIA6.","accession":"DI-04039","synonyms":null,"cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 7.","acronym":"NBIA7.","accession":"DI-05217","synonyms":null,"cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 8.","acronym":"NBIA8.","accession":"DI-05218","synonyms":null,"cross_references":"MeSH; D019189.","definition":"A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Disease onset is in early childhood. Clinical features include speech delay, progressive cerebellar ataxia, unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with brain iron accumulation 9.","acronym":"NBIA9.","accession":"DI-06821","synonyms":null,"cross_references":"MeSH; D019636.","definition":"An autosomal dominant neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. It is characterized by global developmental delay apparent from infancy, and progressive decline of motor and cognitive skills. Clinical features include delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities.","acronym":"NDDRSB.","accession":"DI-06657","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by congenital microcephaly, profound global developmental delay, exaggerated startle response, refractory myoclonic seizures, progressive widespread neurodegeneration, and premature death. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities.","acronym":"NECRC.","accession":"DI-06224","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by dysmorphic craniofacial features, mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract and/or congenital cardiac defects, including septal defects. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity.","acronym":"NEDBASS.","accession":"DI-05846","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay, brain abnormalities, mainly ventriculomegaly and/or brain atrophy, intellectual disability, absent speech, peripheral spasticity, and microcephaly. Additional variable features include early-onset seizures, optic atrophy, and dysmorphic facial features. Early death may occur. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.","acronym":"NEMMLAS.","accession":"DI-05113","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus.","acronym":"NEDSTO.","accession":"DI-06287","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by delayed motor milestones, delayed walking, speech delay, axial hypotonia, and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements. Variably impaired intellectual development, and brain myelination defects are present in some patients. ","keywords":null},{"identifier":"Neurodevelopmental disorder plus optic atrophy.","acronym":"NEDOA.","accession":"DI-06883","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by mild developmental delay, intellectual disability and childhood-onset optic atrophy or ataxia. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with absent language and variable seizures.","acronym":"NEDALVS.","accession":"DI-05718","synonyms":"Ito-Raymond syndrome.; ","cross_references":"MeSH; D065886.","definition":"A disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities.","acronym":"NEDSMB.","accession":"DI-06647","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by global developmental delay apparent in infancy, severely impaired intellectual development, absent speech, and aggressive behavior. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly.","acronym":"NEDAHM.","accession":"DI-05655","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.","acronym":"NDAGSCW.","accession":"DI-05163","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem. ","keywords":"KW-0991:Intellectual disability.; "}]}