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SCHIND
MCID: SCH069
MIFTS: 37
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Schindler Disease, Type I (SCHIND)
Categories:
Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Schindler Disease, Type I:
Characteristics:Orphanet epidemiological data:58
alpha-n-acetylgalactosaminidase deficiency type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
alpha-n-acetylgalactosaminidase deficiency type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
three main phenotypes type i is infantile-onset, severe type ii is adult-onset (kanzaki disease, ) type iii is intermediate form type i onset at 8 to 15 months of age after normal development type i has most severe manifestations by age 4-5 years HPO:31
schindler disease, type i:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Liver diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism |
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NIH Rare Diseases :
52
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 alpha-n-acetylgalactosaminidase deficiency type 1, is related to schindler disease and kanzaki 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, eye and spinal cord, and related phenotypes are hearing impairment and cataract OMIM : 56 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 : 73 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. |
Diseases in the Schindler Disease family:
Diseases related to Schindler Disease, Type I via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Schindler Disease, Type I:
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Human phenotypes related to Schindler Disease, Type I:58 31 (show all 37)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609241UMLS symptoms related to Schindler Disease, Type I:seizures, myoclonus, muscle spasticity, unresponsive to stimuli |
Drugs for Schindler Disease, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Schindler Disease, Type I:40
Cerebellum,
Eye,
Spinal Cord,
Skin
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Articles related to Schindler Disease, Type I:
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Genes related to Schindler Disease, Type I (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Schindler Disease, Type I:6 (show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Schindler Disease, Type I:73
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Search
GEO
for disease gene expression data for Schindler Disease, Type I.
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