ISSD
MCID: INF047
MIFTS: 33

Infantile Free Sialic Acid Storage Disease (ISSD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases categories
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Summaries for Infantile Free Sialic Acid Storage Disease

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 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:47 269920,604369

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

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Sources:
49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 62
free sialic acid storage disease 49 62
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 Orphanet59 238051008, 87074006, 34566007
UMLS via Orphanet63 C2931872, C1963905

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
1free sialic acid storage disorders10.7
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

Symptoms for Infantile Free Sialic Acid Storage Disease

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

269920

Clinical features from OMIM:

269920,604369

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Infantile Free Sialic Acid Storage Disease

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Infantile Free Sialic Acid Storage Disease:

33
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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Sources:
52PubMed
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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
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. (2363700)
1990
4
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. (2768266)
1989

Variations for Infantile Free Sialic Acid Storage Disease

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Infantile Free Sialic Acid Storage Disease:

64
id Symbol AA change Variation ID SNP ID
1SLC17A5p.His183ArgVAR_018686
2SLC17A5p.Pro334ArgVAR_018688
3SLC17A5p.Gly371ValVAR_018689

Clinvar genetic disease variations for Infantile Free Sialic Acid Storage Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC17A5NM_012434.4(SLC17A5): c.500T> C (p.Leu167Pro)single nucleotide variantPathogenicGRCh37Chr 6, 74351439: 74351439
2SLC17A5SLC17A5, 1-BP DEL, 533CdeletionPathogenic
3SLC17A5SLC17A5, 148-BP DEL, NT1112deletionPathogenic
4SLC17A5NM_012434.4(SLC17A5): c.548A> G (p.His183Arg)single nucleotide variantPathogenicrs119491109GRCh37Chr 6, 74348200: 74348200
5SLC17A5NM_012434.4(SLC17A5): c.1001C> G (p.Pro334Arg)single nucleotide variantPathogenicrs119491110GRCh37Chr 6, 74325148: 74325148
6SLC17A5SLC17A5, 500-BP INS, NT978insertionPathogenic
7SLC17A5SLC17A5, 15-BP DEL, NT802deletionPathogenic
8SLC17A5SLC17A5, 15-BP DELdeletionPathogenic

Expression for genes affiliated with Infantile Free Sialic Acid Storage Disease

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Sources:
2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet