ISSD
MCID: INF047
MIFTS: 33

Infantile Free Sialic Acid Storage Disease (ISSD) malady

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

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Wikipedia:65 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease caused when sialic... more...

MalaCards based summary: Infantile Free Sialic Acid Storage Disease, also known as infantile sialic acid storage disorder, 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). Affiliated tissues include skin, bone and liver.

Descriptions from OMIM:46 269920,604369

Aliases & Classifications for Infantile Free Sialic Acid Storage Disease

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Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Infantile Free Sialic Acid Storage Disease, Aliases & Descriptions:

Name: Infantile Free Sialic Acid Storage Disease 42 20
Infantile Sialic Acid Storage Disorder 42 62
Infantile Sialic Acid Storage Disease 44 62
Free Sialic Acid Storage Disease 48 62
 
Issd 42 48
Free Sialic Acid Storage Disease, Infantile Form 48
Sialic Acid Storage Disorder, Infantile 46
Sialuria, Infantile Form 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C538523
ICD10 via Orphanet26 E77.8
UMLS via Orphanet63 C2931872, C1963905

Related Diseases for Infantile Free Sialic Acid Storage Disease

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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

Symptoms for Infantile Free Sialic Acid Storage Disease

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Symptoms by clinical synopsis from OMIM:

269920

Clinical features from OMIM:

269920,604369

Symptoms:

48 (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

HPO human phenotypes related to Infantile Free Sialic Acid Storage Disease:

(show all 57)
id Description Frequency HPO Source Accession
1 nystagmus hallmark (90%) HP:0000639
2 muscular hypotonia hallmark (90%) HP:0001252
3 hypertonia hallmark (90%) HP:0001276
4 gait disturbance hallmark (90%) HP:0001288
5 abnormality of the foot hallmark (90%) HP:0001760
6 incoordination hallmark (90%) HP:0002311
7 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
8 cognitive impairment hallmark (90%) HP:0100543
9 oculomotor apraxia typical (50%) HP:0000657
10 abnormality of skin pigmentation typical (50%) HP:0001000
11 ocular albinism typical (50%) HP:0001107
12 seizures typical (50%) HP:0001250
13 ascites typical (50%) HP:0001541
14 hydrops fetalis typical (50%) HP:0001789
15 abnormal facial shape typical (50%) HP:0001999
16 chorea typical (50%) HP:0002072
17 neurological speech impairment typical (50%) HP:0002167
18 recurrent respiratory infections typical (50%) HP:0002205
19 skeletal dysplasia typical (50%) HP:0002652
20 abnormality of the upper limb typical (50%) HP:0002817
21 reduced bone mineral density typical (50%) HP:0004349
22 skin ulcer typical (50%) HP:0200042
23 proteinuria occasional (7.5%) HP:0000093
24 nephrotic syndrome occasional (7.5%) HP:0000100
25 splenomegaly occasional (7.5%) HP:0001744
26 hepatomegaly occasional (7.5%) HP:0002240
27 autosomal recessive inheritance HP:0000007
28 nephrotic syndrome HP:0000100
29 gingival overgrowth HP:0000212
30 high palate HP:0000218
31 hydrocephalus HP:0000238
32 coarse facial features HP:0000280
33 epicanthus HP:0000286
34 anteverted nares HP:0000463
35 ptosis HP:0000508
36 nystagmus HP:0000639
37 abnormality of the thorax HP:0000765
38 osteopenia HP:0000938
39 hypopigmentation of the skin HP:0001010
40 seizures HP:0001250
41 muscular hypotonia HP:0001252
42 global developmental delay HP:0001263
43 failure to thrive HP:0001508
44 ascites HP:0001541
45 premature birth HP:0001622
46 congestive heart failure HP:0001635
47 cardiomegaly HP:0001640
48 splenomegaly HP:0001744
49 abnormality of the foot HP:0001760
50 hydrops fetalis HP:0001789
51 vacuolated lymphocytes HP:0001922
52 cerebral atrophy HP:0002059
53 hepatomegaly HP:0002240
54 fair hair HP:0002286
55 j-shaped sella turcica HP:0002680
56 conjugated hyperbilirubinemia HP:0002908
57 metaphyseal irregularity HP:0003025

Drugs & Therapeutics for Infantile Free Sialic Acid Storage Disease

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

32
Skin, Bone, Liver

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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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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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:

6 (show all 20)
id Gene Name Type Significance SNP ID Assembly Location
1SLC17A5NM_012434.4(SLC17A5): c.500T> C (p.Leu167Pro)single nucleotide variantPathogenicGRCh37Chr 6, 74351439: 74351439
2SLC17A5NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu)single nucleotide variantPathogenicrs80338795GRCh37Chr 6, 74351533: 74351533
3SLC17A5NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs80338794GRCh37Chr 6, 74354306: 74354306
4SLC17A5SLC17A5, 1-BP DEL, 533CdeletionPathogenic
5SLC17A5SLC17A5, 148-BP DEL, NT1112deletionPathogenic
6SLC17A5NM_012434.4(SLC17A5): c.548A> G (p.His183Arg)single nucleotide variantPathogenicrs119491109GRCh37Chr 6, 74348200: 74348200
7SLC17A5NM_012434.4(SLC17A5): c.1001C> G (p.Pro334Arg)single nucleotide variantPathogenicrs119491110GRCh37Chr 6, 74325148: 74325148
8SLC17A5SLC17A5, 500-BP INS, NT978insertionPathogenic
9SLC17A5SLC17A5, 15-BP DEL, NT802deletionPathogenic
10SLC17A5SLC17A5, 15-BP DELdeletionPathogenic
11SLC17A5NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs)deletionLikely pathogenicrs386833987GRCh37Chr 6, 74325141: 74325142
12SLC17A5NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs)deletionLikely pathogenicrs386833988GRCh37Chr 6, 74320243: 74320244
13SLC17A5NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu)single nucleotide variantLikely pathogenicrs386833989GRCh37Chr 6, 74320156: 74320156
14SLC17A5NM_012434.4(SLC17A5): c.291G> A (p.Thr97=)single nucleotide variantLikely pathogenicrs386833990GRCh37Chr 6, 74354130: 74354130
15SLC17A5NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter)single nucleotide variantLikely pathogenicrs386833991GRCh37Chr 6, 74351630: 74351630
16SLC17A5NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs)deletionLikely pathogenicrs386833992GRCh37Chr 6, 74351432: 74351432
17SLC17A5NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter)single nucleotide variantLikely pathogenicrs386833993GRCh37Chr 6, 74345205: 74345205
18SLC17A5NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del)deletionLikely pathogenicrs386833994GRCh37Chr 6, 74345108: 74345122
19SLC17A5NM_012434.4(SLC17A5): c.95-1G> Csingle nucleotide variantLikely pathogenicrs386833995GRCh37Chr 6, 74354327: 74354327
20SLC17A5NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu)single nucleotide variantLikely pathogenicrs386833996GRCh37Chr 6, 74325166: 74325166

Expression for genes affiliated with Infantile Free Sialic Acid Storage Disease

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Expression patterns in normal tissues for genes affiliated with Infantile Free Sialic Acid Storage Disease

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet