ISSD
MCID: INF047
MIFTS: 24

Infantile Free Sialic Acid Storage Disease (ISSD) malady

Neuronal, Bone, Metabolic categories

Summaries for Infantile Free Sialic Acid Storage Disease

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when sialic... more...

MalaCards: Infantile Free Sialic Acid Storage Disease, also known as infantile sialic acid storage disease, is related to free sialic acid storage disorders and nephrosis, and has symptoms including nystagmus, absent/hypotonic/flaccid abdominal wall muscles and foot anomalies. An important gene associated with Infantile Free Sialic Acid Storage Disease is SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5).

Description from OMIM:47 269920,604369

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Bone, Metabolic


Characteristics (Orphanet epidemiological data):

49
free sialic acid storage disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

infantile free sialic acid storage disease 43 20
infantile sialic acid storage disease 45 61
free sialic acid storage disease 49 61
issd 43 49
free sialic acid storage disease, infantile form 49
sialic acid storage disorder, infantile 47
infantile sialic acid storage disorder 43
sialuria, infantile form 43


External Ids:

MESH via Orphanet36 C538523
ICD10 via Orphanet26 E77.8
SNOMED-CT via Orphanet58 238051008, 87074006
UMLS via Orphanet62 C2931872

Related Diseases for Infantile Free Sialic Acid Storage Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Infantile Free Sialic Acid Storage Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1free sialic acid storage disorders10.4
2nephrosis10.4
3hb bart's hydrops fetalis10.4
4sialuria10.4
5salla disease10.2

Graphical network of diseases related to Infantile Free Sialic Acid Storage Disease:



Diseases related to infantile free sialic acid storage disease

Clinical Features for Infantile Free Sialic Acid Storage Disease

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

269920,604369

Clinical synopsis from OMIM:

269920

Symptoms:

49 (show all 31)
  • nystagmus
  • absent/hypotonic/flaccid abdominal wall muscles
  • foot anomalies
  • motor deficit/trouble
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • pyramidal syndrome
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • facial dysmorphism
  • iris albinism/ocular albinism
  • oculomotor apraxia/dyspraxia
  • upper limb segmental anomalies
  • chronic skin infection/ulcerations/ulcers/cancrum
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • ascitis
  • repeat respiratory infections
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hydrops fetalis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • nephrotic syndrome
  • proteinuria

Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Infantile Free Sialic Acid Storage Disease

Drug clinical trials:

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Search NIH Clinical Center for Infantile Free Sialic Acid Storage Disease

Search CenterWatch for Infantile Free Sialic Acid Storage Disease

Genetic Tests for Infantile Free Sialic Acid Storage Disease

Sources:
20GeneTests
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Genetic tests related to Infantile Free Sialic Acid Storage Disease:

id Genetic test Affiliating Genes
1 Infantile Free Sialic Acid Storage Disease20

Anatomical Context for Infantile Free Sialic Acid Storage Disease

Animal Models for Infantile Free Sialic Acid Storage Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Infantile Free Sialic Acid Storage Disease

Sources:
51PubMed
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Articles related to Infantile Free Sialic Acid Storage Disease:

idTitleAuthorsYear
1
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. (12794688)
2003
2
Clinical spectrum of infantile free sialic acid storage disease. (10069709)
1999
3
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (7573051)
1995
4
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. (2363700)
1990
5
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. (2768266)
1989

Genetic Variations for Infantile Free Sialic Acid Storage Disease

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Infantile Free Sialic Acid Storage Disease:

63
id Symbol AA change Variation SNP ID
1SLC17A5p.His183ArgVAR_018686
2SLC17A5p.Pro334ArgVAR_018688
3SLC17A5p.Gly371ValVAR_018689

Expression for genes affiliated with Infantile Free Sialic Acid Storage Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Infantile Free Sialic Acid Storage Disease

Search GEO for disease gene expression data for Infantile Free Sialic Acid Storage Disease.

Pathways for genes affiliated with Infantile Free Sialic Acid Storage Disease

Compounds for genes affiliated with Infantile Free Sialic Acid Storage Disease

GO Terms for genes affiliated with Infantile Free Sialic Acid Storage Disease

Products for genes affiliated with Infantile Free Sialic Acid Storage Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Infantile Free Sialic Acid Storage Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet