Schindler Disease, Type I (SCHIND)

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OMIM 57 609241 Orphanet 59 ORPHA79279 ORPHA79281 UMLS via Orphanet 74 C1836544 C1836545 ICD10 via Orphanet 34 E77.1

MedGen 42 C1836544 C1836545 C1836546 C1836547 more SNOMED-CT via HPO 69 258211005 103276001 15188001 343087000 95828007 128602000 22066006 128306009 193570009 247053007 563001 76976005 408856003 408857007 43614003 312894000 78441005 26996000 396228006 399955009 234097001 30213001 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 398151007 398152000 221360009 397790002 224958001 26544005 127324008 17450006 86854008 233873004 45227007 43378000 76349003 80515008 271789005 399090003 399153001 404640003 609225004 91019004 14648003 40700009 413924001 68574006 more UMLS 73 C1836544

NIH Rare Diseases : ⁵³ 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 Krestin has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, skin and eye, and related phenotypes are nystagmus and intellectual disability

OMIM : ⁵⁷ 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 : ⁷⁵ 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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