ISSD
MCID: INF047
MIFTS: 33

Infantile Free Sialic Acid Storage Disease (ISSD) malady

Neuronal diseases, Bone diseases, Metabolic diseases categories

Summaries for Infantile Free Sialic Acid Storage Disease

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 lysosomal storage disease and free sialic acid storage disorders, and has symptoms including repeat respiratory infections, chorea/athetosis/choreoathetosis/choreic syndrome and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Infantile Free Sialic Acid Storage Disease is SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5). Affiliated tissues include skin, liver and bone.

Description from OMIM:46 269920,604369

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

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Sources:
48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
free sialic acid storage disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

infantile free sialic acid storage disease 42 20
infantile sialic acid storage disease 44 60
free sialic acid storage disease 48 60
issd 42 48
free sialic acid storage disease, infantile form 48
sialic acid storage disorder, infantile 46
infantile sialic acid storage disorder 42
sialuria, infantile form 42


External Ids:

MESH via Orphanet35 C538523
ICD10 via Orphanet26 E77.8
SNOMED-CT via Orphanet57 238051008, 87074006, 34566007
UMLS via Orphanet61 C2931872

Related Diseases for Infantile Free Sialic Acid Storage Disease

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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
1lysosomal storage disease10.6
2free sialic acid storage disorders10.4
3hb bart's hydrops fetalis10.3
4sialuria10.3
5chromosomal disease10.3
6salla disease10.0

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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

269920,604369

Clinical synopsis from OMIM:

269920

Symptoms:

48 (show all 31)
  • 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
  • ascitis
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • 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
  • nystagmus

Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Infantile Free Sialic Acid Storage Disease

Drug clinical trials:

Search ClinicalTrials for Infantile Free Sialic Acid Storage Disease

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

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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

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32MalaCards
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MalaCards organs/tissues related to Infantile Free Sialic Acid Storage Disease:

32
Skin, Liver, Bone

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

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Publications for Infantile Free Sialic Acid Storage Disease

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Genetic Variations for Infantile Free Sialic Acid Storage Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Infantile Free Sialic Acid Storage Disease:

62
id Symbol AA change Variation ID SNP ID
1SLC17A5p.His183ArgVAR_018686
2SLC17A5p.Pro334ArgVAR_018688
3SLC17A5p.Gly371ValVAR_018689

Expression for genes affiliated with Infantile Free Sialic Acid Storage Disease

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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

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Compounds for genes affiliated with Infantile Free Sialic Acid Storage Disease

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

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Products for genes affiliated with Infantile Free Sialic Acid Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Infantile Free Sialic Acid Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet