MCID: JVN036
MIFTS: 16
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Juvenile Sialidosis Type 2
Categories:
Bone diseases, Eye diseases, Fetal diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Juvenile Sialidosis Type 2:
Name: Juvenile Sialidosis Type 2
58
Characteristics:Orphanet epidemiological data:58
juvenile sialidosis type 2
Inheritance: Autosomal recessive; Classifications:
MalaCards categories:
Global: Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Juvenile Sialidosis Type 2 An important gene associated with Juvenile Sialidosis Type 2 is NEU1 (Neuraminidase 1). Affiliated tissues include eye, heart and kidney, and related phenotypes are coarse facial features and global developmental delay
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Human phenotypes related to Juvenile Sialidosis Type 2:58 31 (show all 39)
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MalaCards organs/tissues related to Juvenile Sialidosis Type 2:40
Eye,
Heart,
Kidney,
Tongue
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Search
GEO
for disease gene expression data for Juvenile Sialidosis Type 2.
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