ISSD
MCID: INF047
MIFTS: 33

Infantile Free Sialic Acid Storage Disease (ISSD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases categories

Summaries for Infantile Free Sialic Acid Storage Disease

About this section
Sources:
66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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:48 269920,604369

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

About this section
Sources:
50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 46Novoseek, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
free sialic acid storage disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

infantile free sialic acid storage disease 44 21
infantile sialic acid storage disease 46 63
free sialic acid storage disease 50 63
issd 44 50
free sialic acid storage disease, infantile form 50
sialic acid storage disorder, infantile 48
infantile sialic acid storage disorder 44
sialuria, infantile form 44


External Ids:

MESH via Orphanet37 C538523
ICD10 via Orphanet27 E77.8
SNOMED-CT via Orphanet60 238051008, 87074006, 34566007
UMLS via Orphanet64 C2931872, C1963905

Related Diseases for Infantile Free Sialic Acid Storage Disease

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

269920

Clinical features from OMIM:

269920,604369

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Infantile Free Sialic Acid Storage Disease:

id Genetic test Affiliating Genes
1 Infantile Free Sialic Acid Storage Disease21

Anatomical Context for Infantile Free Sialic Acid Storage Disease

About this section
Sources:
34MalaCards
See all sources

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

34
Skin, Liver, Bone

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

About this section

Publications for Infantile Free Sialic Acid Storage Disease

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Infantile Free Sialic Acid Storage Disease:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Infantile Free Sialic Acid Storage Disease

About this section

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

About this section

Products for genes affiliated with Infantile Free Sialic Acid Storage Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Infantile Free Sialic Acid Storage Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet