Schindler Disease, Type I (SCHIND)

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OMIM 58 609241 ICD10 via Orphanet 35 E77.1 UMLS via Orphanet 75 C1836544 C1836545 Orphanet 60 ORPHA79279 ORPHA79281

MedGen 43 C1836544 C1836545 C1836546 C1836547 more SNOMED-CT via HPO 70 103276001 127324008 128306009 128602000 128613002 14648003 15188001 17450006 193570009 22066006 221360009 224958001 228156007 233873004 234097001 246545002 247053007 247578003 258211005 26544005 26996000 271789005 30213001 312894000 313307000 343087000 396228006 397790002 398151007 398152000 399090003 399153001 399955009 404640003 40700009 408856003 408857007 413924001 43378000 43614003 45227007 563001 609225004 68574006 76349003 76976005 78441005 80515008 84757009 86854008 91019004 91138005 91175000 95828007 more UMLS 74 C1836544

NIH Rare Diseases : ⁵⁴ Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance. 

MalaCards based summary : Schindler Disease, Type I, also known as schindler disease, type 1, is related to kanzaki disease and schindler disease, and has symptoms including seizures, myoclonus and muscle spasticity. An important gene associated with Schindler Disease, Type I is NAGA (Alpha-N-Acetylgalactosaminidase). The drug polysaccharide-K has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, skin and eye, and related phenotypes are intellectual disability and seizures

OMIM : ⁵⁸ Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001). (609241)

UniProtKB/Swiss-Prot : ⁷⁶ Schindler disease: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive.

Clinical features from OMIM:

609241

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