ISSD
MCID: INF159
MIFTS: 40

Infantile Sialic Acid Storage Disease (ISSD)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile Sialic Acid Storage Disease

MalaCards integrated aliases for Infantile Sialic Acid Storage Disease:

Name: Infantile Sialic Acid Storage Disease 57 55 72
N-Acetylneuraminic Acid Storage Disease 57 74 72
Sialic Acid Storage Disorder, Infantile 57 13 40
Issd 57 59 74
Infantile Sialic Acid Storage Disorder 75 74
Nsd 57 74
Free Sialic Acid Storage Disease, Infantile Form 59
Sialic Acid Storage Disease, Finnish Type 72
Nana Storage Disease; Nsd 57
Sialuria, Infantile Form 57
Nana Storage Disease 57
Sialuria 72

Characteristics:

Orphanet epidemiological data:

59
free sialic acid storage disease, infantile form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Sweden); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to sialuria, finnish type ()
early death (mean age 13 months)


HPO:

32
infantile sialic acid storage disease:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:



External Ids:

OMIM 57 269920
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 73 C1096902 C1963905
Orphanet 59 ORPHA309324
UMLS 72 C0342853 C1096902 C1096903 more

Summaries for Infantile Sialic Acid Storage Disease

OMIM : 57 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999). (269920)

MalaCards based summary : Infantile Sialic Acid Storage Disease, also known as n-acetylneuraminic acid storage disease, is related to infantile free sialic acid storage disease and sialuria, and has symptoms including seizures, ataxia and athetosis. An important gene associated with Infantile Sialic Acid Storage Disease is SLC17A5 (Solute Carrier Family 17 Member 5). The drugs Citalopram and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, and related phenotypes are high palate and hydrocephalus

UniProtKB/Swiss-Prot : 74 Infantile sialic acid storage disorder: Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years.

Wikipedia : 75 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease Occurs when a sialic... more...

Related Diseases for Infantile Sialic Acid Storage Disease

Diseases related to Infantile Sialic Acid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 infantile free sialic acid storage disease 12.0
2 sialuria 11.6
3 sotos syndrome 1 10.3
4 wolf-hirschhorn syndrome 10.3
5 cervical cancer 10.3
6 skin carcinoma 10.3
7 chromosome 4p deletion 10.3
8 ataxia and polyneuropathy, adult-onset 10.2
9 salla disease 10.2
10 lysosomal storage disease 10.2
11 free sialic acid storage disorders 10.2
12 neuraminidase deficiency 10.2
13 cystinosis 10.1
14 hemopericardium 10.1
15 pericardial effusion 10.1
16 agammaglobulinemia 10.1
17 polykaryocytosis inducer 10.1
18 leukemia, acute myeloid 10.1
19 myelodysplastic syndrome 10.1
20 osteonecrosis 10.1
21 telangiectasis 10.1
22 duodenal ulcer 10.1
23 duodenitis 10.1
24 hypertelorism 10.1
25 gastroschisis 10.1
26 nephrosialidosis 10.1
27 3-methylglutaconic aciduria, type iii 10.1
28 alacrima, achalasia, and mental retardation syndrome 10.1
29 mucopolysaccharidosis-plus syndrome 10.1
30 pulmonary hypertension 10.1
31 inguinal hernia 10.1
32 spastic quadriplegia 10.1
33 respiratory failure 10.1
34 nephrotic syndrome 10.1
35 locked-in syndrome 10.1
36 quadriplegia 10.1
37 periventricular leukomalacia 10.1
38 hypothyroidism 10.1
39 dysostosis 10.1
40 gingival hypertrophy 10.1
41 inherited metabolic disorder 10.1
42 hypertrophic cardiomyopathy 10.1
43 fetal edema 10.1
44 hydrops fetalis 10.1
45 abdominal wall defect 10.1
46 spasticity 10.1
47 lysosomal storage disease with skeletal involvement 10.1

Graphical network of the top 20 diseases related to Infantile Sialic Acid Storage Disease:



Diseases related to Infantile Sialic Acid Storage Disease

Symptoms & Phenotypes for Infantile Sialic Acid Storage Disease

Human phenotypes related to Infantile Sialic Acid Storage Disease:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 hydrocephalus 32 HP:0000238
3 ptosis 32 HP:0000508
4 nystagmus 32 HP:0000639
5 osteopenia 32 HP:0000938
6 seizures 32 HP:0001250
7 muscular hypotonia 32 HP:0001252
8 failure to thrive 32 HP:0001508
9 gingival overgrowth 32 HP:0000212
10 coarse facial features 32 HP:0000280
11 global developmental delay 32 HP:0001263
12 splenomegaly 32 HP:0001744
13 hepatomegaly 32 HP:0002240
14 anteverted nares 32 HP:0000463
15 cardiomegaly 32 HP:0001640
16 ascites 32 HP:0001541
17 generalized hypotonia 32 HP:0001290
18 epicanthus 32 HP:0000286
19 abnormality of the thorax 32 HP:0000765
20 congestive heart failure 32 HP:0001635
21 hydrops fetalis 32 HP:0001789
22 abnormality of the foot 32 HP:0001760
23 nephrotic syndrome 32 HP:0000100
24 premature birth 32 HP:0001622
25 cerebral atrophy 32 HP:0002059
26 hypopigmentation of the skin 32 HP:0001010
27 conjugated hyperbilirubinemia 32 HP:0002908
28 j-shaped sella turcica 32 HP:0002680
29 vacuolated lymphocytes 32 HP:0001922
30 metaphyseal irregularity 32 HP:0003025
31 fair hair 32 HP:0002286

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebral atrophy
developmental delay
hypotonia

Skeletal:
osteopenia

Head And Neck Face:
coarse facial features

Abdomen Liver:
hepatomegaly

Abdomen:
ascites

Genitourinary Kidneys:
nephrotic syndrome

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)
increased fibroblast free sialic acid
enlarged lysosomal vacuoles in lymphocytes

Head And Neck Mouth:
high-arched palate
gum hypertrophy

Head And Neck Nose:
anteverted nose

Skeletal Skull:
j-shaped sella

Skin Nails Hair Skin:
hypopigmented skin

Head And Neck Eyes:
ptosis
nystagmus
epicanthal folds
clear cornea
albinoid fundi

Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Cardiovascular Heart:
cardiomegaly
heart failure

Prenatal Manifestations:
hydrops fetalis

Prenatal Manifestations Delivery:
premature birth

Skin Nails Hair Hair:
fair hair

Skeletal Limbs:
metaphyseal irregularities

Chest Ribs Sternum Clavicles And Scapulae:
mild rib widening

Skeletal Feet:
calcaneal calcifications

Clinical features from OMIM:

269920

UMLS symptoms related to Infantile Sialic Acid Storage Disease:


seizures, ataxia, athetosis, muscle spasticity

Drugs & Therapeutics for Infantile Sialic Acid Storage Disease

Drugs for Infantile Sialic Acid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved 59729-33-8 2771
2
Azacitidine Approved, Investigational 320-67-2 9444
3 Neurotransmitter Agents
4 Parasympatholytics
5 Tranquilizing Agents
6 Central Nervous System Depressants
7 Serotonin Uptake Inhibitors
8 Antidepressive Agents, Second-Generation
9 Antidepressive Agents
10 Neurotransmitter Uptake Inhibitors
11 Cholinergic Agents
12 Quetiapine Fumarate 111974-72-2
13 Peripheral Nervous System Agents
14 Muscarinic Antagonists
15 Serotonin Agents
16 Cholinergic Antagonists
17 Psychotropic Drugs
18 Antipsychotic Agents
19 Antiparkinson Agents
20 Autonomic Agents
21
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Interest of a Specific Combined Treatment (Psychotherapy and Pharmacotherapy) in Patients With Dissociative Disorders Unknown status NCT00630981 Pharmacological treatment (Quetiapine and/or Escitalopram)
2 Sialic Acid Supplementation in NANS Deficiency: An Open-label, Proof of Concept, Two-centers Study Completed NCT03545568
3 Acute Defibrillation Performance of a Novel Can-less Shock Pathway Completed NCT02941250
4 Surface ECG Signal Recording for the Implantable Subcutaneous String Defibrillator (ISSD) Detection Algorithm Performance Assessment Completed NCT03408951
5 Surface Electrocardiogram (ECG) Signal Recording for Implantable Subcutaneous String Defibrillator (ISSD) Development Completed NCT02991716

Search NIH Clinical Center for Infantile Sialic Acid Storage Disease

Genetic Tests for Infantile Sialic Acid Storage Disease

Anatomical Context for Infantile Sialic Acid Storage Disease

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

41
Heart, Skin, Bone, Brain, B Cells

Publications for Infantile Sialic Acid Storage Disease

Articles related to Infantile Sialic Acid Storage Disease:

(show top 50) (show all 85)
# Title Authors PMID Year
1
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 38 8 71
10581036 1999
2
Clinical spectrum of infantile free sialic acid storage disease. 38 8 71
10069709 1999
3
Infantile sialic acid storage disease: biochemical studies. 38 8 71
7573152 1995
4
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. 8 71
2010546 1991
5
Sialic acid storage disease. 8 71
2334213 1990
6
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. 8 71
7151835 1982
7
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. 38 71
12794688 2003
8
Free Sialic Acid Storage Disorders 38 71
20301643 2003
9
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. 38 71
12121352 2002
10
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. 38 8
7573051 1995
11
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. 38 8
2363700 1990
12
Nephrosis in two siblings with infantile sialic acid storage disease. 38 8
2347341 1990
13
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. 38 8
2553307 1989
14
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. 38 8
2502674 1989
15
Infantile sialic acid storage disease in two siblings. 38 8
3141716 1988
16
Infantile type of sialic acid storage disease with sialuria. 38 8
3742847 1986
17
Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease. 8
10546100 1999
18
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. 8
7557994 1995
19
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. 8
8198127 1994
20
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. 8
1505579 1992
21
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. 8
1959930 1991
22
Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane. 8
3733077 1986
23
N-Acetylneuraminic acid storage disease. 8
4043964 1985
24
N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease. 8
6615884 1983
25
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. 8
6889058 1983
26
Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder. 8
6856393 1983
27
Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. 8
7057193 1982
28
Prenatal diagnosis of free sialic acid storage disorders (SASD). 9 38
16715535 2006
29
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. 9 38
16170568 2005
30
Functional characterization of wild-type and mutant human sialin. 9 38
15510212 2004
31
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. 9 38
12359136 2002
32
Endoscopic Treatment of Isolated Sphenoid Sinus Disease in Children. 38
31012343 2019
33
Application of Improved Singular Spectrum Decomposition Method for Composite Fault Diagnosis of Gear Boxes. 38
30404236 2018
34
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. 38
30243016 2018
35
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. 38
29654786 2018
36
The recent fall in postperinatal mortality in New Zealand and the Safe Sleep programme. 38
27254483 2016
37
How Often Does Isolated Sphenoid Sinus Disease Turn Out to be a Neoplasm? 38
26703030 2016
38
Unilateral isolated sphenoid sinusitis with contralateral abducens nerve palsy - A rare complication treated in a low-resource setting. 38
25889683 2015
39
Sunlight mediated diesel degradation under saline conditions using ionic silver coated sand via nanoreduction: use of impregnated form of thiourea modified chitosan membranes for ex situ application. 38
25019578 2014
40
Helicopter emergency medical rescue for the traumatized: experience in the metropolitan region of Campinas, Brazil. 38
25295983 2014
41
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. 38
23900835 2014
42
A retrospective analysis of 29 isolated sphenoid fungus ball cases from a medical centre in Korea (1999-2012). 38
23943738 2013
43
Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. 38
22778404 2012
44
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. 38
21617927 2011
45
Functional characterization of vesicular excitatory amino acid transport by human sialin. 38
21781115 2011
46
Sensitivity and specificity of computed tomography and magnetic resonance imaging in the diagnosis of isolated sphenoid sinus diseases. 38
21660976 2011
47
Isolated sphenoid sinus disease - a retrospective analysis. 38
23120685 2010
48
The lysosomal sialic acid transporter sialin is required for normal CNS myelination. 38
20007460 2009
49
Endoscopic transnasal sphenoidotomy with or without ethmoidectomy. 38
17527060 2007
50
Endoscopic surgery with powered instrumentation for isolated sphenoid sinus disease. 38
16462148 2006

Variations for Infantile Sialic Acid Storage Disease

ClinVar genetic disease variations for Infantile Sialic Acid Storage Disease:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC17A5 NM_012434.5(SLC17A5): c.918T> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs201284672 6:74331587-74331587 6:73621864-73621864
2 SLC17A5 NM_012434.5(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 6:74354306-74354306 6:73644583-73644583
3 SLC17A5 SLC17A5, 1-BP DEL, 533C deletion Pathogenic
4 SLC17A5 SLC17A5, 148-BP DEL, NT1112 deletion Pathogenic
5 SLC17A5 NM_012434.5(SLC17A5): c.548A> G (p.His183Arg) single nucleotide variant Pathogenic rs119491109 6:74348200-74348200 6:73638477-73638477
6 SLC17A5 NM_012434.5(SLC17A5): c.1001C> G (p.Pro334Arg) single nucleotide variant Pathogenic rs119491110 6:74325148-74325148 6:73615425-73615425
7 SLC17A5 SLC17A5, 500-BP INS, NT978 insertion Pathogenic
8 SLC17A5 SLC17A5, 15-BP DEL, NT802 deletion Pathogenic
9 SLC17A5 NM_012434.5(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 6:74351533-74351533 6:73641810-73641810
10 SLC17A5 NM_012434.5(SLC17A5): c.409del (p.Met137fs) deletion Likely pathogenic rs794729653 6:74351530-74351530 6:73641807-73641807
11 SLC17A5 NM_012434.5(SLC17A5): c.500T> C (p.Leu167Pro) single nucleotide variant Uncertain significance rs587779410 6:74351439-74351439 6:73641716-73641716
12 SLC17A5 NM_012434.5(SLC17A5): c.899C> T (p.Ser300Phe) single nucleotide variant Uncertain significance rs142553916 6:74331606-74331606 6:73621883-73621883

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

74
# Symbol AA change Variation ID SNP ID
1 SLC17A5 p.His183Arg VAR_018686 rs119491109
2 SLC17A5 p.Pro334Arg VAR_018688 rs119491110
3 SLC17A5 p.Gly371Val VAR_018689

Expression for Infantile Sialic Acid Storage Disease

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

Pathways for Infantile Sialic Acid Storage Disease

GO Terms for Infantile Sialic Acid Storage Disease

Sources for Infantile Sialic Acid Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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