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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   sialidosis
  

Disease ID 766
Disease sialidosis
Definition
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Synonym
mucolipidoses
mucolipidoses [disease/finding]
mucolipidosis
mucolipidosis (disorder)
mucolipidosis, nos
sialidoses
Orphanet
DOID
UMLS
C0026697
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:10)
C0005940  |  bone disease  |  1
C0007286  |  carpal tunnel syndrome  |  1
C0026654  |  moyamoya  |  1
C0020502  |  hyperparathyroidism  |  1
C0410528  |  skeletal dysplasia  |  1
C0020542  |  pulmonary hypertension  |  1
C1619734  |  pulmonary arterial hypertension  |  1
C0026654  |  moyamoya syndrome  |  1
C0020538  |  hypertension  |  1
C0751168  |  neuronopathic gaucher disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
57192  |  MCOLN1  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
79158  |  GNPTAB  |  CIPHER
57192  |  MCOLN1  |  CIPHER;CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 766
Disease sialidosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0002180  |  Neurodegeneration  |  1
HP:0000822  |  Hypertension  |  1
HP:0002652  |  Skeletal dysplasia  |  1
HP:0002917  |  Low blood magnesium levels  |  1
HP:0000843  |  Hyperparathyroidism  |  1
Disease ID 766
Disease sialidosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C2029884  |  hearing loss
C0268226  |  sialidase deficiency
C0235169  |  excitability
C0027066  |  myoclonus
C0021712  |  intention myoclonus
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs341596542404584179158GNPTABumls:C0026697BeFreeThe GNPTAB c.10A>C/p.K4Q missense allele results in an intermediate ML II/III with distinct clinical and biochemical characteristics.0.0172601162013GNPTAB12101830666TG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 766
Disease sialidosis
Case(Waiting for update.)